Canonical Allele Identifier: CA5161692

Gene: ALDOB

Linked Data

• ClinVar Variation Id: 500239
• ClinVar RCV Id: RCV000592985 ; RCV002532512 ; RCV003278930
• dbSNP Id: rs759204107
• ExAC: 9:104192135 C / T
• gnomAD v2: 9-104192135-C-T
• gnomAD v3: 9-101429853-C-T
• gnomAD v4: 9-101429853-C-T
• MyVariant Identifiers: chr9:g.104192135C>T (hg19) ; chr9:g.101429853C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.101429853C>T , CM000671.2:g.101429853C>T	GRCh38
NC_000009.11:g.104192135C>T , CM000671.1:g.104192135C>T	GRCh37
NC_000009.10:g.103231956C>T	NCBI36
NG_012387.1:g.10928G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647789.2:c.226G>A MANE Select	ENSP00000497767.1:p.Gly76Ser
ENST00000648064.1:c.226G>A	ENSP00000497990.1:p.Gly76Ser
ENST00000648758.1:c.226G>A	ENSP00000497731.1:p.Gly76Ser
ENST00000648906.1:n.396G>A
ENST00000649902.1:c.226G>A	ENSP00000497216.1:p.Gly76Ser
ENST00000650613.1:n.302G>A
ENST00000374855.8:c.226G>A	ENSP00000363988.4:p.Gly76Ser
ENST00000468981.3:n.23G>A
ENST00000616752.1:c.226G>A	ENSP00000481363.1:p.Gly76Ser
NM_000035.3:c.226G>A	NP_000026.2:p.Gly76Ser
NM_000035.4:c.226G>A MANE Select	NP_000026.2:p.Gly76Ser