Canonical Allele Identifier: CA5161718

Gene: ALDOB

Linked Data

• ClinVar Variation Id: 598278
• ClinVar RCV Id: RCV000734634 ; RCV002485940
• dbSNP Id: rs780442649
• ExAC: 9:104192233 C / T
• gnomAD v2: 9-104192233-C-T
• gnomAD v3: 9-101429951-C-T
• gnomAD v4: 9-101429951-C-T
• MyVariant Identifiers: chr9:g.104192233C>T (hg19) ; chr9:g.101429951C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.101429951C>T , CM000671.2:g.101429951C>T	GRCh38
NC_000009.11:g.104192233C>T , CM000671.1:g.104192233C>T	GRCh37
NC_000009.10:g.103232054C>T	NCBI36
NG_012387.1:g.10830G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647789.2:c.128G>A MANE Select	ENSP00000497767.1:p.Arg43His
ENST00000648064.1:c.128G>A	ENSP00000497990.1:p.Arg43His
ENST00000648423.1:c.128G>A	ENSP00000497985.1:p.Arg43His
ENST00000648758.1:c.128G>A	ENSP00000497731.1:p.Arg43His
ENST00000648906.1:n.298G>A
ENST00000649902.1:c.128G>A	ENSP00000497216.1:p.Arg43His
ENST00000650613.1:n.204G>A
ENST00000374855.8:c.128G>A	ENSP00000363988.4:p.Arg43His
ENST00000616752.1:c.128G>A	ENSP00000481363.1:p.Arg43His
NM_000035.3:c.128G>A	NP_000026.2:p.Arg43His
NM_000035.4:c.128G>A MANE Select	NP_000026.2:p.Arg43His