Canonical Allele Identifier: CA357479228
Gene: ADH1B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99318096G>T , CM000666.2:g.99318096G>T GRCh38
NC_000004.11:g.100239253G>T , CM000666.1:g.100239253G>T GRCh37
NC_000004.10:g.100458276G>T NCBI36
NG_011435.1:g.8320C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000305046.13:c.209C>A MANE Select ENSP00000306606.8:p.Ala70Glu
ENST00000639454.1:c.209C>A ENSP00000491622.1:p.Ala70Glu
ENST00000305046.12:c.209C>A ENSP00000306606.8:p.Ala70Glu
ENST00000504498.1:n.263C>A
ENST00000506651.5:c.89C>A ENSP00000425998.2:p.Ala30Glu
ENST00000515694.4:n.2304C>A
ENST00000625860.2:c.89C>A ENSP00000486614.1:p.Ala30Glu
ENST00000632775.1:n.772C>A
NM_000668.5:c.209C>A NP_000659.2:p.Ala70Glu
NM_001286650.1:c.89C>A NP_001273579.1:p.Ala30Glu
NM_000668.6:c.209C>A MANE Select NP_000659.2:p.Ala70Glu
NM_001286650.2:c.89C>A NP_001273579.1:p.Ala30Glu