Canonical Allele Identifier: CA1065913568

Linked Data

dbSNP Id: rs1734443491
gnomAD v3: 4-99342740-A-G
gnomAD v4: 4-99342740-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99342740A>G , CM000666.2:g.99342740A>G GRCh38
NC_000004.11:g.100263897A>G , CM000666.1:g.100263897A>G GRCh37
NC_000004.10:g.100482920A>G NCBI36
NG_011718.1:g.15021T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000515683.6:c.828+55T>C (ADH1C) MANE Select ENSP00000426083.1:n.828+55T>C
ENST00000639454.1:c.18+9918T>C (ADH1B) ENSP00000491622.1:n.18+9918T>C
ENST00000515683.5:c.828+55T>C (ADH1C) ENSP00000426083.1:n.828+55T>C
NM_000669.4:c.828+55T>C (ADH1C) NP_000660.1:n.828+55T>C
NR_133005.1:n.1154+99T>C (ADH1C)
XM_011531588.1:c.726+55T>C (ADH1C) XP_011529890.1:n.726+55T>C
XM_011531589.1:c.708+55T>C (ADH1C) XP_011529891.1:n.708+55T>C
NM_000669.5:c.828+55T>C (ADH1C) MANE Select NP_000660.1:n.828+55T>C
NR_133005.2:n.855+99T>C (ADH1C)