Canonical Allele Identifier: CA374264220

Gene: ALDOB

Linked Data

• ClinVar Variation Id: 2008203
• ClinVar RCV Id: RCV002833692
• MyVariant Identifiers: chr9:g.104187152G>C (hg19) ; chr9:g.101424870G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.101424870G>C , CM000671.2:g.101424870G>C	GRCh38
NC_000009.11:g.104187152G>C , CM000671.1:g.104187152G>C	GRCh37
NC_000009.10:g.103226973G>C	NCBI36
NG_012387.1:g.15911C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647789.2:c.972C>G MANE Select	ENSP00000497767.1:p.Thr324=
ENST00000648064.1:c.972C>G	ENSP00000497990.1:p.Thr324=
ENST00000648758.1:c.972C>G	ENSP00000497731.1:p.Thr324=
ENST00000649902.1:c.972C>G	ENSP00000497216.1:p.Thr324=
ENST00000374855.8:c.972C>G	ENSP00000363988.4:p.Thr324=
ENST00000616752.1:c.935C>G	ENSP00000481363.1:p.Pro312Arg
NM_000035.3:c.972C>G	NP_000026.2:p.Thr324=
NM_000035.4:c.972C>G MANE Select	NP_000026.2:p.Thr324=