Canonical Allele Identifier: CA5161402

Gene: ALDOB

Linked Data

• ClinVar Variation Id: 507888
• ClinVar RCV Id: RCV000729667
• dbSNP Id: rs369238799
• ExAC: 9:104184189 A / G
• gnomAD v2: 9-104184189-A-G
• gnomAD v3: 9-101421907-A-G
• gnomAD v4: 9-101421907-A-G
• COSMIC: COSM3167188
• MyVariant Identifiers: chr9:g.104184189A>G (hg19) ; chr9:g.101421907A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.101421907A>G , CM000671.2:g.101421907A>G	GRCh38
NC_000009.11:g.104184189A>G , CM000671.1:g.104184189A>G	GRCh37
NC_000009.10:g.103224010A>G	NCBI36
NG_012387.1:g.18874T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647789.2:c.1000-3T>C MANE Select	ENSP00000497767.1:n.1000-3T>C
ENST00000648064.1:c.1000-3T>C	ENSP00000497990.1:n.1000-3T>C
ENST00000648758.1:c.1000-3T>C	ENSP00000497731.1:n.1000-3T>C
ENST00000374855.8:c.1000-3T>C	ENSP00000363988.4:n.1000-3T>C
ENST00000616752.1:c.*12-3T>C	ENSP00000481363.1:n.*12-3T>C
NM_000035.3:c.1000-3T>C	NP_000026.2:n.1000-3T>C
NM_000035.4:c.1000-3T>C MANE Select	NP_000026.2:n.1000-3T>C