Canonical Allele Identifier: CA357479586

Gene: ADH1B

Linked Data

• dbSNP Id: rs1389807535
• gnomAD v3: 4-99318178-C-T
• gnomAD v4: 4-99318178-C-T
• MyVariant Identifiers: chr4:g.100239335C>T (hg19) ; chr4:g.99318178C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99318178C>T , CM000666.2:g.99318178C>T	GRCh38
NC_000004.11:g.100239335C>T , CM000666.1:g.100239335C>T	GRCh37
NC_000004.10:g.100458358C>T	NCBI36
NG_011435.1:g.8238G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305046.13:c.127G>A MANE Select	ENSP00000306606.8:p.Ala43Thr
ENST00000639454.1:c.127G>A	ENSP00000491622.1:p.Ala43Thr
ENST00000305046.12:c.127G>A	ENSP00000306606.8:p.Ala43Thr
ENST00000504498.1:n.181G>A
ENST00000506651.5:c.7G>A	ENSP00000425998.2:p.Ala3Thr
ENST00000515694.4:n.2222G>A
ENST00000625860.2:c.7G>A	ENSP00000486614.1:p.Ala3Thr
ENST00000632775.1:n.690G>A
NM_000668.5:c.127G>A	NP_000659.2:p.Ala43Thr
NM_001286650.1:c.7G>A	NP_001273579.1:p.Ala3Thr
NM_000668.6:c.127G>A MANE Select	NP_000659.2:p.Ala43Thr
NM_001286650.2:c.7G>A	NP_001273579.1:p.Ala3Thr