Canonical Allele Identifier: CA2578151424

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99342720T>A , CM000666.2:g.99342720T>A GRCh38
NC_000004.11:g.100263877T>A , CM000666.1:g.100263877T>A GRCh37
NC_000004.10:g.100482900T>A NCBI36
NG_011718.1:g.15041A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000515683.6:c.828+75A>T (ADH1C) MANE Select ENSP00000426083.1:n.828+75A>T
ENST00000639454.1:c.18+9938A>T (ADH1B) ENSP00000491622.1:n.18+9938A>T
ENST00000515683.5:c.828+75A>T (ADH1C) ENSP00000426083.1:n.828+75A>T
NM_000669.4:c.828+75A>T (ADH1C) NP_000660.1:n.828+75A>T
NR_133005.1:n.1154+119A>T (ADH1C)
XM_011531588.1:c.726+75A>T (ADH1C) XP_011529890.1:n.726+75A>T
XM_011531589.1:c.708+75A>T (ADH1C) XP_011529891.1:n.708+75A>T
NM_000669.5:c.828+75A>T (ADH1C) MANE Select NP_000660.1:n.828+75A>T
NR_133005.2:n.855+119A>T (ADH1C)