Question: Nomenclature For Alleles
gravatar for jspencenumber29
7.1 years ago by
jspencenumber2910 wrote:

How is the nomenclature of an allele derived. For an example the snp in MCPH1 is referred to as G37995C is the G the ancestral allele or is it the derived allele? I need this for my science fair project so please help me! Thanks

allele • 1.9k views
ADD COMMENTlink modified 4.5 years ago by Biostar ♦♦ 20 • written 7.1 years ago by jspencenumber2910
gravatar for Philipp Bayer
7.1 years ago by
Philipp Bayer6.6k
Philipp Bayer6.6k wrote:

G37995C means, in this case:

37995 is genomic position on the Microcephalin-gene. G and C are the involved nucleotides: G is the ancestral/major nucleotide, C is the high frequency variant that changes an aspartate to a histidine and may be under positive selection. Hope this helps a bit.


ADD COMMENTlink written 7.1 years ago by Philipp Bayer6.6k
gravatar for Mary
7.1 years ago by
Boston MA area
Mary11k wrote:

If you want the official guidelines you should check out the HGVS, Human Genome Variation Society: main site = They are the ones who evaluate the issues around this and try to encourage people to use the correct designations. (But a lot of scientists don't even really do this correctly and we drive each other crazy anyway.)

Excruciating details: and click on the various items. A good place to reference in your project.

Good luck at your science fair!

EDIT as an afterthought: you might also want to know that group is distinct from the HGNC or the Human Gene Nomenclature Committee: But they work in concert with each other.

ADD COMMENTlink modified 7.1 years ago • written 7.1 years ago by Mary11k
gravatar for jxchong
7.1 years ago by
Postdoc at the University of Washington
jxchong160 wrote:

Hmm, actually it depends on where you got that nucleotide change and who was writing it. The G could be any of these things: 1) ancestral allele 2) reference genome allele 3) major allele. These three things are not necessarily the same allele at a given position!

ADD COMMENTlink written 7.1 years ago by jxchong160
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