Canonical Allele Identifier: CA357489279

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99342811C>A , CM000666.2:g.99342811C>A GRCh38
NC_000004.11:g.100263968C>A , CM000666.1:g.100263968C>A GRCh37
NC_000004.10:g.100482991C>A NCBI36
NG_011718.1:g.14950G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000515683.6:c.812G>T (ADH1C) MANE Select ENSP00000426083.1:p.Gly271Val
ENST00000639454.1:c.18+9847G>T (ADH1B) ENSP00000491622.1:n.18+9847G>T
ENST00000515683.5:c.812G>T (ADH1C) ENSP00000426083.1:p.Gly271Val
NM_000669.4:c.812G>T (ADH1C) NP_000660.1:p.Gly271Val
NR_133005.1:n.1154+28G>T (ADH1C)
XM_011531588.1:c.710G>T (ADH1C) XP_011529890.1:p.Gly237Val
XM_011531589.1:c.692G>T (ADH1C) XP_011529891.1:p.Gly231Val
NM_000669.5:c.812G>T (ADH1C) MANE Select NP_000660.1:p.Gly271Val
NR_133005.2:n.855+28G>T (ADH1C)