Canonical Allele Identifier: CA347812

Gene: ALDOB

Linked Data

• ClinVar Variation Id: 218380
• ClinVar RCV Id: RCV000202622
• dbSNP Id: rs764826805
• ExAC: 9:104192036 C / T
• gnomAD v2: 9-104192036-C-T
• gnomAD v4: 9-101429754-C-T
• MyVariant Identifiers: chr9:g.104192036C>T (hg19) ; chr9:g.101429754C>T (hg38)
• PubMed: PMID:25595217 ; PMID:26677512

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.101429754C>T , CM000671.2:g.101429754C>T	GRCh38
NC_000009.11:g.104192036C>T , CM000671.1:g.104192036C>T	GRCh37
NC_000009.10:g.103231857C>T	NCBI36
NG_012387.1:g.11027G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647789.2:c.324+1G>A MANE Select	ENSP00000497767.1:n.324+1G>A
ENST00000648064.1:c.324+1G>A	ENSP00000497990.1:n.324+1G>A
ENST00000648758.1:c.324+1G>A	ENSP00000497731.1:n.324+1G>A
ENST00000648906.1:n.495G>A
ENST00000649902.1:c.324+1G>A	ENSP00000497216.1:n.324+1G>A
ENST00000650613.1:n.401G>A
ENST00000374855.8:c.324+1G>A	ENSP00000363988.4:n.324+1G>A
ENST00000468981.3:n.67+55G>A
ENST00000616752.1:c.324+1G>A	ENSP00000481363.1:n.324+1G>A
NM_000035.3:c.324+1G>A	NP_000026.2:n.324+1G>A
NM_000035.4:c.324+1G>A MANE Select	NP_000026.2:n.324+1G>A