Canonical Allele Identifier: CA2671521812

Linked Data

gnomAD v4: 4-99336907-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99336907C>A , CM000666.2:g.99336907C>A GRCh38
NC_000004.11:g.100258064C>A , CM000666.1:g.100258064C>A GRCh37
NC_000004.10:g.100477087C>A NCBI36
NG_011718.1:g.20854G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000515683.6:c.1104-131G>T (ADH1C) MANE Select ENSP00000426083.1:n.1104-131G>T
ENST00000639454.1:c.18+15751G>T (ADH1B) ENSP00000491622.1:n.18+15751G>T
ENST00000515683.5:c.1104-131G>T (ADH1C) ENSP00000426083.1:n.1104-131G>T
NM_000669.4:c.1104-131G>T (ADH1C) NP_000660.1:n.1104-131G>T
NR_133005.1:n.1430-131G>T (ADH1C)
XM_011531588.1:c.1002-131G>T (ADH1C) XP_011529890.1:n.1002-131G>T
XM_011531589.1:c.984-131G>T (ADH1C) XP_011529891.1:n.984-131G>T
NM_000669.5:c.1104-131G>T (ADH1C) MANE Select NP_000660.1:n.1104-131G>T
NR_133005.2:n.1131-131G>T (ADH1C)