Canonical Allele Identifier: CA357495867
Gene: ADH1B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99307845A>T , CM000666.2:g.99307845A>T GRCh38
NC_000004.11:g.100229002A>T , CM000666.1:g.100229002A>T GRCh37
NC_000004.10:g.100448025A>T NCBI36
NG_011435.1:g.18571T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000305046.13:c.1123T>A MANE Select ENSP00000306606.8:p.Phe375Ile
ENST00000639454.1:c.1123T>A ENSP00000491622.1:p.Phe375Ile
ENST00000305046.12:c.1123T>A ENSP00000306606.8:p.Phe375Ile
ENST00000506651.5:c.1003T>A ENSP00000425998.2:p.Phe335Ile
ENST00000515694.4:n.3218T>A
ENST00000625860.2:c.1003T>A ENSP00000486614.1:p.Phe335Ile
NM_000668.5:c.1123T>A NP_000659.2:p.Phe375Ile
NM_001286650.1:c.1003T>A NP_001273579.1:p.Phe335Ile
NM_000668.6:c.1123T>A MANE Select NP_000659.2:p.Phe375Ile
NM_001286650.2:c.1003T>A NP_001273579.1:p.Phe335Ile