Canonical Allele Identifier: CA2671517305
Gene: ADH1B HGNC NCBI

Linked Data

gnomAD v4: 4-99307698-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99307698C>A , CM000666.2:g.99307698C>A GRCh38
NC_000004.11:g.100228855C>A , CM000666.1:g.100228855C>A GRCh37
NC_000004.10:g.100447878C>A NCBI36
NG_011435.1:g.18718G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000305046.13:c.*142G>T MANE Select ENSP00000306606.8:n.*142G>T
ENST00000305046.12:c.*142G>T ENSP00000306606.8:n.*142G>T
ENST00000506651.5:c.*142G>T ENSP00000425998.2:n.*142G>T
ENST00000515694.4:n.3365G>T
ENST00000625860.2:c.*142G>T ENSP00000486614.1:n.*142G>T
NM_000668.5:c.*142G>T NP_000659.2:n.*142G>T
NM_001286650.1:c.*142G>T NP_001273579.1:n.*142G>T
NM_000668.6:c.*142G>T MANE Select NP_000659.2:n.*142G>T
NM_001286650.2:c.*142G>T NP_001273579.1:n.*142G>T
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