Canonical Allele Identifier: CA357495847
Gene: ADH1B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99307840T>A , CM000666.2:g.99307840T>A GRCh38
NC_000004.11:g.100228997T>A , CM000666.1:g.100228997T>A GRCh37
NC_000004.10:g.100448020T>A NCBI36
NG_011435.1:g.18576A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000305046.13:c.1128A>T MANE Select ENSP00000306606.8:p.Ter376Cys
ENST00000305046.12:c.1128A>T ENSP00000306606.8:p.Ter376Cys
ENST00000506651.5:c.1008A>T ENSP00000425998.2:p.Ter336Cys
ENST00000515694.4:n.3223A>T
ENST00000625860.2:c.1008A>T ENSP00000486614.1:p.Ter336Cys
NM_000668.5:c.1128A>T NP_000659.2:p.Ter376Cys
NM_001286650.1:c.1008A>T NP_001273579.1:p.Ter336Cys
NM_000668.6:c.1128A>T MANE Select NP_000659.2:p.Ter376Cys
NM_001286650.2:c.1008A>T NP_001273579.1:p.Ter336Cys