Canonical Allele Identifier: CA357479417
Gene: ADH1B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99318132A>G , CM000666.2:g.99318132A>G GRCh38
NC_000004.11:g.100239289A>G , CM000666.1:g.100239289A>G GRCh37
NC_000004.10:g.100458312A>G NCBI36
NG_011435.1:g.8284T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000305046.13:c.173T>C MANE Select ENSP00000306606.8:p.Leu58Pro
ENST00000639454.1:c.173T>C ENSP00000491622.1:p.Leu58Pro
ENST00000305046.12:c.173T>C ENSP00000306606.8:p.Leu58Pro
ENST00000504498.1:n.227T>C
ENST00000506651.5:c.53T>C ENSP00000425998.2:p.Leu18Pro
ENST00000515694.4:n.2268T>C
ENST00000625860.2:c.53T>C ENSP00000486614.1:p.Leu18Pro
ENST00000632775.1:n.736T>C
NM_000668.5:c.173T>C NP_000659.2:p.Leu58Pro
NM_001286650.1:c.53T>C NP_001273579.1:p.Leu18Pro
NM_000668.6:c.173T>C MANE Select NP_000659.2:p.Leu58Pro
NM_001286650.2:c.53T>C NP_001273579.1:p.Leu18Pro