Canonical Allele Identifier: CA3020063

Gene: ADH1B

Linked Data

• dbSNP Id: rs759752959
• ExAC: 4:100239329 C / G
• gnomAD v2: 4-100239329-C-G
• MyVariant Identifiers: chr4:g.100239329C>G (hg19) ; chr4:g.99318172C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99318172C>G , CM000666.2:g.99318172C>G	GRCh38
NC_000004.11:g.100239329C>G , CM000666.1:g.100239329C>G	GRCh37
NC_000004.10:g.100458352C>G	NCBI36
NG_011435.1:g.8244G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000305046.13:c.133G>C MANE Select	ENSP00000306606.8:p.Gly45Arg
ENST00000639454.1:c.133G>C	ENSP00000491622.1:p.Gly45Arg
ENST00000305046.12:c.133G>C	ENSP00000306606.8:p.Gly45Arg
ENST00000504498.1:n.187G>C
ENST00000506651.5:c.13G>C	ENSP00000425998.2:p.Gly5Arg
ENST00000515694.4:n.2228G>C
ENST00000625860.2:c.13G>C	ENSP00000486614.1:p.Gly5Arg
ENST00000632775.1:n.696G>C
NM_000668.5:c.133G>C	NP_000659.2:p.Gly45Arg
NM_001286650.1:c.13G>C	NP_001273579.1:p.Gly5Arg
NM_000668.6:c.133G>C MANE Select	NP_000659.2:p.Gly45Arg
NM_001286650.2:c.13G>C	NP_001273579.1:p.Gly5Arg