Canonical Allele Identifier: CA101652478
Gene: ADH1B HGNC NCBI

Linked Data

dbSNP Id: rs998106868
gnomAD v3: 4-99318026-C-T
gnomAD v4: 4-99318026-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99318026C>T , CM000666.2:g.99318026C>T GRCh38
NC_000004.11:g.100239183C>T , CM000666.1:g.100239183C>T GRCh37
NC_000004.10:g.100458206C>T NCBI36
NG_011435.1:g.8390G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000305046.13:c.259+20G>A MANE Select ENSP00000306606.8:n.259+20G>A
ENST00000639454.1:c.259+20G>A ENSP00000491622.1:n.259+20G>A
ENST00000305046.12:c.259+20G>A ENSP00000306606.8:n.259+20G>A
ENST00000504498.1:n.333G>A
ENST00000506651.5:c.139+20G>A ENSP00000425998.2:n.139+20G>A
ENST00000515694.4:n.2354+20G>A
ENST00000625860.2:c.139+20G>A ENSP00000486614.1:n.139+20G>A
ENST00000632775.1:n.842G>A
NM_000668.5:c.259+20G>A NP_000659.2:n.259+20G>A
NM_001286650.1:c.139+20G>A NP_001273579.1:n.139+20G>A
NM_000668.6:c.259+20G>A MANE Select NP_000659.2:n.259+20G>A
NM_001286650.2:c.139+20G>A NP_001273579.1:n.139+20G>A