Canonical Allele Identifier: CA339810

Gene: ALDOB

Linked Data

• ClinVar Variation Id: 464
• ClinVar RCV Id: RCV000000493 ; RCV000224056 ; RCV002251841 ; RCV003415603
• dbSNP Id: rs1800546
• ExAC: 9:104189856 C / G
• gnomAD v2: 9-104189856-C-G
• gnomAD v3: 9-101427574-C-G
• gnomAD v4: 9-101427574-C-G
• MyVariant Identifiers: chr9:g.104189856C>G (hg19) ; chr9:g.101427574C>G (hg38)
• PubMed: PMID:1967768 ; PMID:2623136 ; PMID:3383242 ; PMID:6348085 ; PMID:8096362 ; PMID:11757579 ; PMID:12205126 ; PMID:12417303 ; PMID:12464284 ; PMID:15733923 ; PMID:15880727 ; PMID:16406649 ; PMID:18541450 ; PMID:20033295 ; PMID:23430936 ; PMID:26677512 ; PMID:26937407

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.101427574C>G , CM000671.2:g.101427574C>G	GRCh38
NC_000009.11:g.104189856C>G , CM000671.1:g.104189856C>G	GRCh37
NC_000009.10:g.103229677C>G	NCBI36
NG_012387.1:g.13207G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647789.2:c.448G>C MANE Select	ENSP00000497767.1:p.Ala150Pro
ENST00000648064.1:c.448G>C	ENSP00000497990.1:p.Ala150Pro
ENST00000648758.1:c.448G>C	ENSP00000497731.1:p.Ala150Pro
ENST00000649902.1:c.448G>C	ENSP00000497216.1:p.Ala150Pro
ENST00000374855.8:c.448G>C	ENSP00000363988.4:p.Ala150Pro
ENST00000468981.3:n.68-936G>C
ENST00000616752.1:c.448G>C	ENSP00000481363.1:p.Ala150Pro
NM_000035.3:c.448G>C	NP_000026.2:p.Ala150Pro
NM_000035.4:c.448G>C MANE Select	NP_000026.2:p.Ala150Pro