Canonical Allele Identifier: CA357479552
Gene: ADH1B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99318166A>C , CM000666.2:g.99318166A>C GRCh38
NC_000004.11:g.100239323A>C , CM000666.1:g.100239323A>C GRCh37
NC_000004.10:g.100458346A>C NCBI36
NG_011435.1:g.8250T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000305046.13:c.139T>G MANE Select ENSP00000306606.8:p.Cys47Gly
ENST00000639454.1:c.139T>G ENSP00000491622.1:p.Cys47Gly
ENST00000305046.12:c.139T>G ENSP00000306606.8:p.Cys47Gly
ENST00000504498.1:n.193T>G
ENST00000506651.5:c.19T>G ENSP00000425998.2:p.Cys7Gly
ENST00000515694.4:n.2234T>G
ENST00000625860.2:c.19T>G ENSP00000486614.1:p.Cys7Gly
ENST00000632775.1:n.702T>G
NM_000668.5:c.139T>G NP_000659.2:p.Cys47Gly
NM_001286650.1:c.19T>G NP_001273579.1:p.Cys7Gly
NM_000668.6:c.139T>G MANE Select NP_000659.2:p.Cys47Gly
NM_001286650.2:c.19T>G NP_001273579.1:p.Cys7Gly