Canonical Allele Identifier: CA357495861
Gene: ADH1B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99307843A>C , CM000666.2:g.99307843A>C GRCh38
NC_000004.11:g.100229000A>C , CM000666.1:g.100229000A>C GRCh37
NC_000004.10:g.100448023A>C NCBI36
NG_011435.1:g.18573T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000305046.13:c.1125T>G MANE Select ENSP00000306606.8:p.Phe375Leu
ENST00000639454.1:c.1125T>G ENSP00000491622.1:p.Phe375Leu
ENST00000305046.12:c.1125T>G ENSP00000306606.8:p.Phe375Leu
ENST00000506651.5:c.1005T>G ENSP00000425998.2:p.Phe335Leu
ENST00000515694.4:n.3220T>G
ENST00000625860.2:c.1005T>G ENSP00000486614.1:p.Phe335Leu
NM_000668.5:c.1125T>G NP_000659.2:p.Phe375Leu
NM_001286650.1:c.1005T>G NP_001273579.1:p.Phe335Leu
NM_000668.6:c.1125T>G MANE Select NP_000659.2:p.Phe375Leu
NM_001286650.2:c.1005T>G NP_001273579.1:p.Phe335Leu