Canonical Allele Identifier: CA357495903
Gene: ADH1B HGNC NCBI

Linked Data

gnomAD v4: 4-99307857-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99307857T>C , CM000666.2:g.99307857T>C GRCh38
NC_000004.11:g.100229014T>C , CM000666.1:g.100229014T>C GRCh37
NC_000004.10:g.100448037T>C NCBI36
NG_011435.1:g.18559A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000305046.13:c.1111A>G MANE Select ENSP00000306606.8:p.Thr371Ala
ENST00000639454.1:c.1111A>G ENSP00000491622.1:p.Thr371Ala
ENST00000305046.12:c.1111A>G ENSP00000306606.8:p.Thr371Ala
ENST00000506651.5:c.991A>G ENSP00000425998.2:p.Thr331Ala
ENST00000515694.4:n.3206A>G
ENST00000625860.2:c.991A>G ENSP00000486614.1:p.Thr331Ala
NM_000668.5:c.1111A>G NP_000659.2:p.Thr371Ala
NM_001286650.1:c.991A>G NP_001273579.1:p.Thr331Ala
NM_000668.6:c.1111A>G MANE Select NP_000659.2:p.Thr371Ala
NM_001286650.2:c.991A>G NP_001273579.1:p.Thr331Ala