Canonical Allele Identifier: CA357479083
Gene: ADH1B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99318072C>A , CM000666.2:g.99318072C>A GRCh38
NC_000004.11:g.100239229C>A , CM000666.1:g.100239229C>A GRCh37
NC_000004.10:g.100458252C>A NCBI36
NG_011435.1:g.8344G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000305046.13:c.233G>T MANE Select ENSP00000306606.8:p.Gly78Val
ENST00000639454.1:c.233G>T ENSP00000491622.1:p.Gly78Val
ENST00000305046.12:c.233G>T ENSP00000306606.8:p.Gly78Val
ENST00000504498.1:n.287G>T
ENST00000506651.5:c.113G>T ENSP00000425998.2:p.Gly38Val
ENST00000515694.4:n.2328G>T
ENST00000625860.2:c.113G>T ENSP00000486614.1:p.Gly38Val
ENST00000632775.1:n.796G>T
NM_000668.5:c.233G>T NP_000659.2:p.Gly78Val
NM_001286650.1:c.113G>T NP_001273579.1:p.Gly38Val
NM_000668.6:c.233G>T MANE Select NP_000659.2:p.Gly78Val
NM_001286650.2:c.113G>T NP_001273579.1:p.Gly38Val