Canonical Allele Identifier: CA5161432

Gene: ALDOB

Linked Data

• ClinVar Variation Id: 417929
• ClinVar RCV Id: RCV000477962 ; RCV001567261 ; RCV002526509 ; RCV002222519
• dbSNP Id: rs145078268
• ExAC: 9:104187213 C / T
• gnomAD v2: 9-104187213-C-T
• gnomAD v3: 9-101424931-C-T
• gnomAD v4: 9-101424931-C-T
• MyVariant Identifiers: chr9:g.104187213C>T (hg19) ; chr9:g.101424931C>T (hg38)
• PubMed: PMID:10970798 ; PMID:21228398 ; PMID:22995991

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.101424931C>T , CM000671.2:g.101424931C>T	GRCh38
NC_000009.11:g.104187213C>T , CM000671.1:g.104187213C>T	GRCh37
NC_000009.10:g.103227034C>T	NCBI36
NG_012387.1:g.15850G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647789.2:c.911G>A MANE Select	ENSP00000497767.1:p.Arg304Gln
ENST00000648064.1:c.911G>A	ENSP00000497990.1:p.Arg304Gln
ENST00000648758.1:c.911G>A	ENSP00000497731.1:p.Arg304Gln
ENST00000649902.1:c.911G>A	ENSP00000497216.1:p.Arg304Gln
ENST00000374855.8:c.911G>A	ENSP00000363988.4:p.Arg304Gln
ENST00000616752.1:c.904+7G>A	ENSP00000481363.1:n.904+7G>A
NM_000035.3:c.911G>A	NP_000026.2:p.Arg304Gln
NM_000035.4:c.911G>A MANE Select	NP_000026.2:p.Arg304Gln