Canonical Allele Identifier: CA339811

Gene: ALDOB

Linked Data

• ClinVar Variation Id: 465
• ClinVar RCV Id: RCV000000494 ; RCV000352944 ; RCV002251842 ; RCV002512605 ; RCV003952332
• dbSNP Id: rs76917243
• ExAC: 9:104189780 G / T
• gnomAD v2: 9-104189780-G-T
• gnomAD v3: 9-101427498-G-T
• gnomAD v4: 9-101427498-G-T
• MyVariant Identifiers: chr9:g.104189780G>T (hg19) ; chr9:g.101427498G>T (hg38)
• PubMed: PMID:1967768 ; PMID:11757579 ; PMID:12205126 ; PMID:12417303 ; PMID:15880727 ; PMID:18541450 ; PMID:20033295 ; PMID:23430936 ; PMID:26677512

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.101427498G>T , CM000671.2:g.101427498G>T	GRCh38
NC_000009.11:g.104189780G>T , CM000671.1:g.104189780G>T	GRCh37
NC_000009.10:g.103229601G>T	NCBI36
NG_012387.1:g.13283C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647789.2:c.524C>A MANE Select	ENSP00000497767.1:p.Ala175Asp
ENST00000648064.1:c.524C>A	ENSP00000497990.1:p.Ala175Asp
ENST00000648758.1:c.524C>A	ENSP00000497731.1:p.Ala175Asp
ENST00000649902.1:c.524C>A	ENSP00000497216.1:p.Ala175Asp
ENST00000374855.8:c.524C>A	ENSP00000363988.4:p.Ala175Asp
ENST00000468981.3:n.68-860C>A
ENST00000616752.1:c.524C>A	ENSP00000481363.1:p.Ala175Asp
NM_000035.3:c.524C>A	NP_000026.2:p.Ala175Asp
NM_000035.4:c.524C>A MANE Select	NP_000026.2:p.Ala175Asp