Canonical Allele Identifier: CA5161700

Gene: ALDOB

Linked Data

• ClinVar Variation Id: 795003
• ClinVar RCV Id: RCV000978301
• dbSNP Id: rs779129856
• ExAC: 9:104192154 G / A
• gnomAD v2: 9-104192154-G-A
• gnomAD v4: 9-101429872-G-A
• MyVariant Identifiers: chr9:g.104192154G>A (hg19) ; chr9:g.101429872G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.101429872G>A , CM000671.2:g.101429872G>A	GRCh38
NC_000009.11:g.104192154G>A , CM000671.1:g.104192154G>A	GRCh37
NC_000009.10:g.103231975G>A	NCBI36
NG_012387.1:g.10909C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647789.2:c.207C>T MANE Select	ENSP00000497767.1:p.Ser69=
ENST00000648064.1:c.207C>T	ENSP00000497990.1:p.Ser69=
ENST00000648423.1:c.207C>T	ENSP00000497985.1:p.Ser69=
ENST00000648758.1:c.207C>T	ENSP00000497731.1:p.Ser69=
ENST00000648906.1:n.377C>T
ENST00000649902.1:c.207C>T	ENSP00000497216.1:p.Ser69=
ENST00000650613.1:n.283C>T
ENST00000374855.8:c.207C>T	ENSP00000363988.4:p.Ser69=
ENST00000468981.3:n.4C>T
ENST00000616752.1:c.207C>T	ENSP00000481363.1:p.Ser69=
NM_000035.3:c.207C>T	NP_000026.2:p.Ser69=
NM_000035.4:c.207C>T MANE Select	NP_000026.2:p.Ser69=