Canonical Allele Identifier: CA357479565
Gene: ADH1B HGNC NCBI

Linked Data

gnomAD v4: 4-99318169-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99318169T>G , CM000666.2:g.99318169T>G GRCh38
NC_000004.11:g.100239326T>G , CM000666.1:g.100239326T>G GRCh37
NC_000004.10:g.100458349T>G NCBI36
NG_011435.1:g.8247A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000305046.13:c.136A>C MANE Select ENSP00000306606.8:p.Ile46Leu
ENST00000639454.1:c.136A>C ENSP00000491622.1:p.Ile46Leu
ENST00000305046.12:c.136A>C ENSP00000306606.8:p.Ile46Leu
ENST00000504498.1:n.190A>C
ENST00000506651.5:c.16A>C ENSP00000425998.2:p.Ile6Leu
ENST00000515694.4:n.2231A>C
ENST00000625860.2:c.16A>C ENSP00000486614.1:p.Ile6Leu
ENST00000632775.1:n.699A>C
NM_000668.5:c.136A>C NP_000659.2:p.Ile46Leu
NM_001286650.1:c.16A>C NP_001273579.1:p.Ile6Leu
NM_000668.6:c.136A>C MANE Select NP_000659.2:p.Ile46Leu
NM_001286650.2:c.16A>C NP_001273579.1:p.Ile6Leu