Canonical Allele Identifier: CA357479558
Gene: ADH1B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99318168A>C , CM000666.2:g.99318168A>C GRCh38
NC_000004.11:g.100239325A>C , CM000666.1:g.100239325A>C GRCh37
NC_000004.10:g.100458348A>C NCBI36
NG_011435.1:g.8248T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000305046.13:c.137T>G MANE Select ENSP00000306606.8:p.Ile46Ser
ENST00000639454.1:c.137T>G ENSP00000491622.1:p.Ile46Ser
ENST00000305046.12:c.137T>G ENSP00000306606.8:p.Ile46Ser
ENST00000504498.1:n.191T>G
ENST00000506651.5:c.17T>G ENSP00000425998.2:p.Ile6Ser
ENST00000515694.4:n.2232T>G
ENST00000625860.2:c.17T>G ENSP00000486614.1:p.Ile6Ser
ENST00000632775.1:n.700T>G
NM_000668.5:c.137T>G NP_000659.2:p.Ile46Ser
NM_001286650.1:c.17T>G NP_001273579.1:p.Ile6Ser
NM_000668.6:c.137T>G MANE Select NP_000659.2:p.Ile46Ser
NM_001286650.2:c.17T>G NP_001273579.1:p.Ile6Ser