Canonical Allele Identifier: CA101637470
Gene: ADH1B HGNC NCBI

Linked Data

dbSNP Id: rs918178900
gnomAD v3: 4-99307732-G-C
gnomAD v4: 4-99307732-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99307732G>C , CM000666.2:g.99307732G>C GRCh38
NC_000004.11:g.100228889G>C , CM000666.1:g.100228889G>C GRCh37
NC_000004.10:g.100447912G>C NCBI36
NG_011435.1:g.18684C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000305046.13:c.*108C>G MANE Select ENSP00000306606.8:n.*108C>G
ENST00000305046.12:c.*108C>G ENSP00000306606.8:n.*108C>G
ENST00000506651.5:c.*108C>G ENSP00000425998.2:n.*108C>G
ENST00000515694.4:n.3331C>G
ENST00000625860.2:c.*108C>G ENSP00000486614.1:n.*108C>G
NM_000668.5:c.*108C>G NP_000659.2:n.*108C>G
NM_001286650.1:c.*108C>G NP_001273579.1:n.*108C>G
NM_000668.6:c.*108C>G MANE Select NP_000659.2:n.*108C>G
NM_001286650.2:c.*108C>G NP_001273579.1:n.*108C>G