Canonical Allele Identifier: CA357479560

Gene: ADH1B

Linked Data

• MyVariant Identifiers: chr4:g.100239325A>T (hg19) ; chr4:g.99318168A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99318168A>T , CM000666.2:g.99318168A>T	GRCh38
NC_000004.11:g.100239325A>T , CM000666.1:g.100239325A>T	GRCh37
NC_000004.10:g.100458348A>T	NCBI36
NG_011435.1:g.8248T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000305046.13:c.137T>A MANE Select	ENSP00000306606.8:p.Ile46Asn
ENST00000639454.1:c.137T>A	ENSP00000491622.1:p.Ile46Asn
ENST00000305046.12:c.137T>A	ENSP00000306606.8:p.Ile46Asn
ENST00000504498.1:n.191T>A
ENST00000506651.5:c.17T>A	ENSP00000425998.2:p.Ile6Asn
ENST00000515694.4:n.2232T>A
ENST00000625860.2:c.17T>A	ENSP00000486614.1:p.Ile6Asn
ENST00000632775.1:n.700T>A
NM_000668.5:c.137T>A	NP_000659.2:p.Ile46Asn
NM_001286650.1:c.17T>A	NP_001273579.1:p.Ile6Asn
NM_000668.6:c.137T>A MANE Select	NP_000659.2:p.Ile46Asn
NM_001286650.2:c.17T>A	NP_001273579.1:p.Ile6Asn