Canonical Allele Identifier: CA357479484

Gene: ADH1B

Linked Data

• dbSNP Id: rs1733935157
• gnomAD v4: 4-99318150-T-C
• MyVariant Identifiers: chr4:g.100239307T>C (hg19) ; chr4:g.99318150T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99318150T>C , CM000666.2:g.99318150T>C	GRCh38
NC_000004.11:g.100239307T>C , CM000666.1:g.100239307T>C	GRCh37
NC_000004.10:g.100458330T>C	NCBI36
NG_011435.1:g.8266A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305046.13:c.155A>G MANE Select	ENSP00000306606.8:p.His52Arg
ENST00000639454.1:c.155A>G	ENSP00000491622.1:p.His52Arg
ENST00000305046.12:c.155A>G	ENSP00000306606.8:p.His52Arg
ENST00000504498.1:n.209A>G
ENST00000506651.5:c.35A>G	ENSP00000425998.2:p.His12Arg
ENST00000515694.4:n.2250A>G
ENST00000625860.2:c.35A>G	ENSP00000486614.1:p.His12Arg
ENST00000632775.1:n.718A>G
NM_000668.5:c.155A>G	NP_000659.2:p.His52Arg
NM_001286650.1:c.35A>G	NP_001273579.1:p.His12Arg
NM_000668.6:c.155A>G MANE Select	NP_000659.2:p.His52Arg
NM_001286650.2:c.35A>G	NP_001273579.1:p.His12Arg