Canonical Allele Identifier: CA553104049
Gene: ADH1C HGNC NCBI

Linked Data

dbSNP Id: rs1161484340
gnomAD v3: 4-99352871-G-A
gnomAD v4: 4-99352871-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99352871G>A , CM000666.2:g.99352871G>A GRCh38
NC_000004.11:g.100274028G>A , CM000666.1:g.100274028G>A GRCh37
NC_000004.10:g.100493051G>A NCBI36
NG_011718.1:g.4890C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000515683.5:c.-196C>T ENSP00000426083.1:n.-196C>T
NM_000669.4:c.-196C>T NP_000660.1:n.-196C>T
NR_133005.1:n.175C>T
XM_011531588.1:c.-196C>T XP_011529890.1:n.-196C>T
XM_011531589.1:c.-436C>T XP_011529891.1:n.-436C>T