Canonical Allele Identifier: CA196957943

Gene: ALDOB

Linked Data

• dbSNP Id: rs963110062
• gnomAD v3: 9-101429508-C-A
• gnomAD v4: 9-101429508-C-A
• MyVariant Identifiers: chr9:g.104191790C>A (hg19) ; chr9:g.101429508C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.101429508C>A , CM000671.2:g.101429508C>A	GRCh38
NC_000009.11:g.104191790C>A , CM000671.1:g.104191790C>A	GRCh37
NC_000009.10:g.103231611C>A	NCBI36
NG_012387.1:g.11273G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647789.2:c.324+247G>T MANE Select	ENSP00000497767.1:n.324+247G>T
ENST00000648064.1:c.324+247G>T	ENSP00000497990.1:n.324+247G>T
ENST00000648758.1:c.324+247G>T	ENSP00000497731.1:n.324+247G>T
ENST00000648906.1:n.741G>T
ENST00000649902.1:c.324+247G>T	ENSP00000497216.1:n.324+247G>T
ENST00000650613.1:n.647G>T
ENST00000374855.8:c.324+247G>T	ENSP00000363988.4:n.324+247G>T
ENST00000468981.3:n.67+301G>T
ENST00000616752.1:c.324+247G>T	ENSP00000481363.1:n.324+247G>T
NM_000035.3:c.324+247G>T	NP_000026.2:n.324+247G>T
NM_000035.4:c.324+247G>T MANE Select	NP_000026.2:n.324+247G>T