Canonical Allele Identifier: CA553567944

Linked Data

dbSNP Id: rs1339738672
gnomAD v3: 4-99342716-A-G
gnomAD v4: 4-99342716-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99342716A>G , CM000666.2:g.99342716A>G GRCh38
NC_000004.11:g.100263873A>G , CM000666.1:g.100263873A>G GRCh37
NC_000004.10:g.100482896A>G NCBI36
NG_011718.1:g.15045T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000515683.6:c.828+79T>C (ADH1C) MANE Select ENSP00000426083.1:n.828+79T>C
ENST00000639454.1:c.18+9942T>C (ADH1B) ENSP00000491622.1:n.18+9942T>C
ENST00000515683.5:c.828+79T>C (ADH1C) ENSP00000426083.1:n.828+79T>C
NM_000669.4:c.828+79T>C (ADH1C) NP_000660.1:n.828+79T>C
NR_133005.1:n.1154+123T>C (ADH1C)
XM_011531588.1:c.726+79T>C (ADH1C) XP_011529890.1:n.726+79T>C
XM_011531589.1:c.708+79T>C (ADH1C) XP_011529891.1:n.708+79T>C
NM_000669.5:c.828+79T>C (ADH1C) MANE Select NP_000660.1:n.828+79T>C
NR_133005.2:n.855+123T>C (ADH1C)