Canonical Allele Identifier: CA3020060
Gene: ADH1B HGNC NCBI

Linked Data

dbSNP Id: rs761042153
gnomAD v3: 4-99318163-G-A
gnomAD v4: 4-99318163-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99318163G>A , CM000666.2:g.99318163G>A GRCh38
NC_000004.11:g.100239320G>A , CM000666.1:g.100239320G>A GRCh37
NC_000004.10:g.100458343G>A NCBI36
NG_011435.1:g.8253C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000305046.13:c.142C>T MANE Select ENSP00000306606.8:p.His48Tyr
ENST00000639454.1:c.142C>T ENSP00000491622.1:p.His48Tyr
ENST00000305046.12:c.142C>T ENSP00000306606.8:p.His48Tyr
ENST00000504498.1:n.196C>T
ENST00000506651.5:c.22C>T ENSP00000425998.2:p.His8Tyr
ENST00000515694.4:n.2237C>T
ENST00000625860.2:c.22C>T ENSP00000486614.1:p.His8Tyr
ENST00000632775.1:n.705C>T
NM_000668.5:c.142C>T NP_000659.2:p.His48Tyr
NM_001286650.1:c.22C>T NP_001273579.1:p.His8Tyr
NM_000668.6:c.142C>T MANE Select NP_000659.2:p.His48Tyr
NM_001286650.2:c.22C>T NP_001273579.1:p.His8Tyr