Canonical Allele Identifier: CA2671520116
Gene: ADH1B HGNC NCBI

Linked Data

gnomAD v4: 4-99318002-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99318002C>A , CM000666.2:g.99318002C>A GRCh38
NC_000004.11:g.100239159C>A , CM000666.1:g.100239159C>A GRCh37
NC_000004.10:g.100458182C>A NCBI36
NG_011435.1:g.8414G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000305046.13:c.259+44G>T MANE Select ENSP00000306606.8:n.259+44G>T
ENST00000639454.1:c.259+44G>T ENSP00000491622.1:n.259+44G>T
ENST00000305046.12:c.259+44G>T ENSP00000306606.8:n.259+44G>T
ENST00000504498.1:n.357G>T
ENST00000506651.5:c.139+44G>T ENSP00000425998.2:n.139+44G>T
ENST00000515694.4:n.2354+44G>T
ENST00000625860.2:c.139+44G>T ENSP00000486614.1:n.139+44G>T
ENST00000632775.1:n.866G>T
NM_000668.5:c.259+44G>T NP_000659.2:n.259+44G>T
NM_001286650.1:c.139+44G>T NP_001273579.1:n.139+44G>T
NM_000668.6:c.259+44G>T MANE Select NP_000659.2:n.259+44G>T
NM_001286650.2:c.139+44G>T NP_001273579.1:n.139+44G>T