Canonical Allele Identifier: CA357495857
Gene: ADH1B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99307842A>G , CM000666.2:g.99307842A>G GRCh38
NC_000004.11:g.100228999A>G , CM000666.1:g.100228999A>G GRCh37
NC_000004.10:g.100448022A>G NCBI36
NG_011435.1:g.18574T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000305046.13:c.1126T>C MANE Select ENSP00000306606.8:p.Ter376Arg
ENST00000305046.12:c.1126T>C ENSP00000306606.8:p.Ter376Arg
ENST00000506651.5:c.1006T>C ENSP00000425998.2:p.Ter336Arg
ENST00000515694.4:n.3221T>C
ENST00000625860.2:c.1006T>C ENSP00000486614.1:p.Ter336Arg
NM_000668.5:c.1126T>C NP_000659.2:p.Ter376Arg
NM_001286650.1:c.1006T>C NP_001273579.1:p.Ter336Arg
NM_000668.6:c.1126T>C MANE Select NP_000659.2:p.Ter376Arg
NM_001286650.2:c.1006T>C NP_001273579.1:p.Ter336Arg