Canonical Allele Identifier: CA101652462
Gene: ADH1B HGNC NCBI

Linked Data

dbSNP Id: rs953577917
gnomAD v4: 4-99317989-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99317989A>G , CM000666.2:g.99317989A>G GRCh38
NC_000004.11:g.100239146A>G , CM000666.1:g.100239146A>G GRCh37
NC_000004.10:g.100458169A>G NCBI36
NG_011435.1:g.8427T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000305046.13:c.259+57T>C MANE Select ENSP00000306606.8:n.259+57T>C
ENST00000639454.1:c.259+57T>C ENSP00000491622.1:n.259+57T>C
ENST00000305046.12:c.259+57T>C ENSP00000306606.8:n.259+57T>C
ENST00000504498.1:n.370T>C
ENST00000506651.5:c.139+57T>C ENSP00000425998.2:n.139+57T>C
ENST00000515694.4:n.2354+57T>C
ENST00000625860.2:c.139+57T>C ENSP00000486614.1:n.139+57T>C
ENST00000632775.1:n.879T>C
NM_000668.5:c.259+57T>C NP_000659.2:n.259+57T>C
NM_001286650.1:c.139+57T>C NP_001273579.1:n.139+57T>C
NM_000668.6:c.259+57T>C MANE Select NP_000659.2:n.259+57T>C
NM_001286650.2:c.139+57T>C NP_001273579.1:n.139+57T>C