Canonical Allele Identifier: CA357479011

Gene: ADH1B

Linked Data

• MyVariant Identifiers: chr4:g.100239217G>T (hg19) ; chr4:g.99318060G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99318060G>T , CM000666.2:g.99318060G>T	GRCh38
NC_000004.11:g.100239217G>T , CM000666.1:g.100239217G>T	GRCh37
NC_000004.10:g.100458240G>T	NCBI36
NG_011435.1:g.8356C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305046.13:c.245C>A MANE Select	ENSP00000306606.8:p.Thr82Asn
ENST00000639454.1:c.245C>A	ENSP00000491622.1:p.Thr82Asn
ENST00000305046.12:c.245C>A	ENSP00000306606.8:p.Thr82Asn
ENST00000504498.1:n.299C>A
ENST00000506651.5:c.125C>A	ENSP00000425998.2:p.Thr42Asn
ENST00000515694.4:n.2340C>A
ENST00000625860.2:c.125C>A	ENSP00000486614.1:p.Thr42Asn
ENST00000632775.1:n.808C>A
NM_000668.5:c.245C>A	NP_000659.2:p.Thr82Asn
NM_001286650.1:c.125C>A	NP_001273579.1:p.Thr42Asn
NM_000668.6:c.245C>A MANE Select	NP_000659.2:p.Thr82Asn
NM_001286650.2:c.125C>A	NP_001273579.1:p.Thr42Asn