Canonical Allele Identifier: CA2578151149
Gene: ADH1B HGNC NCBI

Linked Data

gnomAD v4: 4-99307839-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99307839C>T , CM000666.2:g.99307839C>T GRCh38
NC_000004.11:g.100228996C>T , CM000666.1:g.100228996C>T GRCh37
NC_000004.10:g.100448019C>T NCBI36
NG_011435.1:g.18577G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000305046.13:c.*1G>A MANE Select ENSP00000306606.8:n.*1G>A
ENST00000305046.12:c.*1G>A ENSP00000306606.8:n.*1G>A
ENST00000506651.5:c.*1G>A ENSP00000425998.2:n.*1G>A
ENST00000515694.4:n.3224G>A
ENST00000625860.2:c.*1G>A ENSP00000486614.1:n.*1G>A
NM_000668.5:c.*1G>A NP_000659.2:n.*1G>A
NM_001286650.1:c.*1G>A NP_001273579.1:n.*1G>A
NM_000668.6:c.*1G>A MANE Select NP_000659.2:n.*1G>A
NM_001286650.2:c.*1G>A NP_001273579.1:n.*1G>A