Canonical Allele Identifier: CA3020059
Gene: ADH1B HGNC NCBI

Linked Data

dbSNP Id: rs1229984

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99318162T>C , CM000666.2:g.99318162T>C GRCh38
NC_000004.11:g.100239319T>C , CM000666.1:g.100239319T>C GRCh37
NC_000004.10:g.100458342T>C NCBI36
NG_011435.1:g.8254A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000305046.13:c.143A>G MANE Select ENSP00000306606.8:p.His48Arg
ENST00000639454.1:c.143A>G ENSP00000491622.1:p.His48Arg
ENST00000305046.12:c.143A>G ENSP00000306606.8:p.His48Arg
ENST00000504498.1:n.197A>G
ENST00000506651.5:c.23A>G ENSP00000425998.2:p.His8Arg
ENST00000515694.4:n.2238A>G
ENST00000625860.2:c.23A>G ENSP00000486614.1:p.His8Arg
ENST00000632775.1:n.706A>G
NM_000668.5:c.143A>G NP_000659.2:p.His48Arg
NM_001286650.1:c.23A>G NP_001273579.1:p.His8Arg
NM_000668.6:c.143A>G MANE Select NP_000659.2:p.His48Arg
NM_001286650.2:c.23A>G NP_001273579.1:p.His8Arg