Canonical Allele Identifier: CA357479489

Gene: ADH1B

Linked Data

• dbSNP Id: rs1733935226
• gnomAD v3: 4-99318151-G-C
• gnomAD v4: 4-99318151-G-C
• MyVariant Identifiers: chr4:g.100239308G>C (hg19) ; chr4:g.99318151G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99318151G>C , CM000666.2:g.99318151G>C	GRCh38
NC_000004.11:g.100239308G>C , CM000666.1:g.100239308G>C	GRCh37
NC_000004.10:g.100458331G>C	NCBI36
NG_011435.1:g.8265C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305046.13:c.154C>G MANE Select	ENSP00000306606.8:p.His52Asp
ENST00000639454.1:c.154C>G	ENSP00000491622.1:p.His52Asp
ENST00000305046.12:c.154C>G	ENSP00000306606.8:p.His52Asp
ENST00000504498.1:n.208C>G
ENST00000506651.5:c.34C>G	ENSP00000425998.2:p.His12Asp
ENST00000515694.4:n.2249C>G
ENST00000625860.2:c.34C>G	ENSP00000486614.1:p.His12Asp
ENST00000632775.1:n.717C>G
NM_000668.5:c.154C>G	NP_000659.2:p.His52Asp
NM_001286650.1:c.34C>G	NP_001273579.1:p.His12Asp
NM_000668.6:c.154C>G MANE Select	NP_000659.2:p.His52Asp
NM_001286650.2:c.34C>G	NP_001273579.1:p.His12Asp