Canonical Allele Identifier: CA357479510

Gene: ADH1B

Linked Data

• dbSNP Id: rs1301497066
• gnomAD v2: 4-100239312-A-T
• gnomAD v4: 4-99318155-A-T
• MyVariant Identifiers: chr4:g.100239312A>T (hg19) ; chr4:g.99318155A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99318155A>T , CM000666.2:g.99318155A>T	GRCh38
NC_000004.11:g.100239312A>T , CM000666.1:g.100239312A>T	GRCh37
NC_000004.10:g.100458335A>T	NCBI36
NG_011435.1:g.8261T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305046.13:c.150T>A MANE Select	ENSP00000306606.8:p.Asp50Glu
ENST00000639454.1:c.150T>A	ENSP00000491622.1:p.Asp50Glu
ENST00000305046.12:c.150T>A	ENSP00000306606.8:p.Asp50Glu
ENST00000504498.1:n.204T>A
ENST00000506651.5:c.30T>A	ENSP00000425998.2:p.Asp10Glu
ENST00000515694.4:n.2245T>A
ENST00000625860.2:c.30T>A	ENSP00000486614.1:p.Asp10Glu
ENST00000632775.1:n.713T>A
NM_000668.5:c.150T>A	NP_000659.2:p.Asp50Glu
NM_001286650.1:c.30T>A	NP_001273579.1:p.Asp10Glu
NM_000668.6:c.150T>A MANE Select	NP_000659.2:p.Asp50Glu
NM_001286650.2:c.30T>A	NP_001273579.1:p.Asp10Glu