Canonical Allele Identifier: CA1065912899

Linked Data

dbSNP Id: rs1734400944
gnomAD v3: 4-99340928-A-T
gnomAD v4: 4-99340928-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99340928A>T , CM000666.2:g.99340928A>T GRCh38
NC_000004.11:g.100262085A>T , CM000666.1:g.100262085A>T GRCh37
NC_000004.10:g.100481108A>T NCBI36
NG_011718.1:g.16833T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000515683.6:c.829-218T>A (ADH1C) MANE Select ENSP00000426083.1:n.829-218T>A
ENST00000639454.1:c.18+11730T>A (ADH1B) ENSP00000491622.1:n.18+11730T>A
ENST00000515683.5:c.829-218T>A (ADH1C) ENSP00000426083.1:n.829-218T>A
NM_000669.4:c.829-218T>A (ADH1C) NP_000660.1:n.829-218T>A
NR_133005.1:n.1155-218T>A (ADH1C)
XM_011531588.1:c.727-218T>A (ADH1C) XP_011529890.1:n.727-218T>A
XM_011531589.1:c.709-218T>A (ADH1C) XP_011529891.1:n.709-218T>A
NM_000669.5:c.829-218T>A (ADH1C) MANE Select NP_000660.1:n.829-218T>A
NR_133005.2:n.856-218T>A (ADH1C)