Canonical Allele Identifier: CA196957630

Gene: ALDOB

Linked Data

• dbSNP Id: rs1004889060
• gnomAD v2: 9-104190625-A-T
• gnomAD v3: 9-101428343-A-T
• gnomAD v4: 9-101428343-A-T
• MyVariant Identifiers: chr9:g.104190625A>T (hg19) ; chr9:g.101428343A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.101428343A>T , CM000671.2:g.101428343A>T	GRCh38
NC_000009.11:g.104190625A>T , CM000671.1:g.104190625A>T	GRCh37
NC_000009.10:g.103230446A>T	NCBI36
NG_012387.1:g.12438T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647789.2:c.379+126T>A MANE Select	ENSP00000497767.1:n.379+126T>A
ENST00000648064.1:c.379+126T>A	ENSP00000497990.1:n.379+126T>A
ENST00000648758.1:c.379+126T>A	ENSP00000497731.1:n.379+126T>A
ENST00000649902.1:c.379+126T>A	ENSP00000497216.1:n.379+126T>A
ENST00000374855.8:c.379+126T>A	ENSP00000363988.4:n.379+126T>A
ENST00000468981.3:n.67+1466T>A
ENST00000616752.1:c.379+126T>A	ENSP00000481363.1:n.379+126T>A
NM_000035.3:c.379+126T>A	NP_000026.2:n.379+126T>A
NM_000035.4:c.379+126T>A MANE Select	NP_000026.2:n.379+126T>A