Canonical Allele Identifier: CA3020044
Gene: ADH1B HGNC NCBI

Linked Data

dbSNP Id: rs754035032
gnomAD v3: 4-99318076-C-G
gnomAD v4: 4-99318076-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99318076C>G , CM000666.2:g.99318076C>G GRCh38
NC_000004.11:g.100239233C>G , CM000666.1:g.100239233C>G GRCh37
NC_000004.10:g.100458256C>G NCBI36
NG_011435.1:g.8340G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000305046.13:c.229G>C MANE Select ENSP00000306606.8:p.Val77Leu
ENST00000639454.1:c.229G>C ENSP00000491622.1:p.Val77Leu
ENST00000305046.12:c.229G>C ENSP00000306606.8:p.Val77Leu
ENST00000504498.1:n.283G>C
ENST00000506651.5:c.109G>C ENSP00000425998.2:p.Val37Leu
ENST00000515694.4:n.2324G>C
ENST00000625860.2:c.109G>C ENSP00000486614.1:p.Val37Leu
ENST00000632775.1:n.792G>C
NM_000668.5:c.229G>C NP_000659.2:p.Val77Leu
NM_001286650.1:c.109G>C NP_001273579.1:p.Val37Leu
NM_000668.6:c.229G>C MANE Select NP_000659.2:p.Val77Leu
NM_001286650.2:c.109G>C NP_001273579.1:p.Val37Leu