Canonical Allele Identifier: CA1479942146
Gene: ADH1B HGNC NCBI

Linked Data

dbSNP Id: rs1733648095
gnomAD v4: 4-99307786-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99307786C>T , CM000666.2:g.99307786C>T GRCh38
NC_000004.11:g.100228943C>T , CM000666.1:g.100228943C>T GRCh37
NC_000004.10:g.100447966C>T NCBI36
NG_011435.1:g.18630G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000305046.13:c.*54G>A MANE Select ENSP00000306606.8:n.*54G>A
ENST00000305046.12:c.*54G>A ENSP00000306606.8:n.*54G>A
ENST00000506651.5:c.*54G>A ENSP00000425998.2:n.*54G>A
ENST00000515694.4:n.3277G>A
ENST00000625860.2:c.*54G>A ENSP00000486614.1:n.*54G>A
NM_000668.5:c.*54G>A NP_000659.2:n.*54G>A
NM_001286650.1:c.*54G>A NP_001273579.1:n.*54G>A
NM_000668.6:c.*54G>A MANE Select NP_000659.2:n.*54G>A
NM_001286650.2:c.*54G>A NP_001273579.1:n.*54G>A
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