Canonical Allele Identifier: CA357479136

Gene: ADH1B

Linked Data

• COSMIC: COSM3408944
• MyVariant Identifiers: chr4:g.100239237C>A (hg19) ; chr4:g.99318080C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99318080C>A , CM000666.2:g.99318080C>A	GRCh38
NC_000004.11:g.100239237C>A , CM000666.1:g.100239237C>A	GRCh37
NC_000004.10:g.100458260C>A	NCBI36
NG_011435.1:g.8336G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000305046.13:c.225G>T MANE Select	ENSP00000306606.8:p.Glu75Asp
ENST00000639454.1:c.225G>T	ENSP00000491622.1:p.Glu75Asp
ENST00000305046.12:c.225G>T	ENSP00000306606.8:p.Glu75Asp
ENST00000504498.1:n.279G>T
ENST00000506651.5:c.105G>T	ENSP00000425998.2:p.Glu35Asp
ENST00000515694.4:n.2320G>T
ENST00000625860.2:c.105G>T	ENSP00000486614.1:p.Glu35Asp
ENST00000632775.1:n.788G>T
NM_000668.5:c.225G>T	NP_000659.2:p.Glu75Asp
NM_001286650.1:c.105G>T	NP_001273579.1:p.Glu35Asp
NM_000668.6:c.225G>T MANE Select	NP_000659.2:p.Glu75Asp
NM_001286650.2:c.105G>T	NP_001273579.1:p.Glu35Asp