Canonical Allele Identifier: CA3020041
Gene: ADH1B HGNC NCBI

Linked Data

dbSNP Id: rs773608186
gnomAD v4: 4-99318064-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99318064C>A , CM000666.2:g.99318064C>A GRCh38
NC_000004.11:g.100239221C>A , CM000666.1:g.100239221C>A GRCh37
NC_000004.10:g.100458244C>A NCBI36
NG_011435.1:g.8352G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000305046.13:c.241G>T MANE Select ENSP00000306606.8:p.Val81Leu
ENST00000639454.1:c.241G>T ENSP00000491622.1:p.Val81Leu
ENST00000305046.12:c.241G>T ENSP00000306606.8:p.Val81Leu
ENST00000504498.1:n.295G>T
ENST00000506651.5:c.121G>T ENSP00000425998.2:p.Val41Leu
ENST00000515694.4:n.2336G>T
ENST00000625860.2:c.121G>T ENSP00000486614.1:p.Val41Leu
ENST00000632775.1:n.804G>T
NM_000668.5:c.241G>T NP_000659.2:p.Val81Leu
NM_001286650.1:c.121G>T NP_001273579.1:p.Val41Leu
NM_000668.6:c.241G>T MANE Select NP_000659.2:p.Val81Leu
NM_001286650.2:c.121G>T NP_001273579.1:p.Val41Leu