Canonical Allele Identifier: CA357478984

Gene: ADH1B

Linked Data

• MyVariant Identifiers: chr4:g.100239211A>G (hg19) ; chr4:g.99318054A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99318054A>G , CM000666.2:g.99318054A>G	GRCh38
NC_000004.11:g.100239211A>G , CM000666.1:g.100239211A>G	GRCh37
NC_000004.10:g.100458234A>G	NCBI36
NG_011435.1:g.8362T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305046.13:c.251T>C MANE Select	ENSP00000306606.8:p.Val84Ala
ENST00000639454.1:c.251T>C	ENSP00000491622.1:p.Val84Ala
ENST00000305046.12:c.251T>C	ENSP00000306606.8:p.Val84Ala
ENST00000504498.1:n.305T>C
ENST00000506651.5:c.131T>C	ENSP00000425998.2:p.Val44Ala
ENST00000515694.4:n.2346T>C
ENST00000625860.2:c.131T>C	ENSP00000486614.1:p.Val44Ala
ENST00000632775.1:n.814T>C
NM_000668.5:c.251T>C	NP_000659.2:p.Val84Ala
NM_001286650.1:c.131T>C	NP_001273579.1:p.Val44Ala
NM_000668.6:c.251T>C MANE Select	NP_000659.2:p.Val84Ala
NM_001286650.2:c.131T>C	NP_001273579.1:p.Val44Ala