Canonical Allele Identifier: CA466462950

Gene: ALDOB

Linked Data

• ClinVar Variation Id: 1899836
• ClinVar RCV Id: RCV002582853
• MyVariant Identifiers: chr9:g.104190758G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.101428476G>C , CM000671.2:g.101428476G>C	GRCh38
NC_000009.11:g.104190758G>C , CM000671.1:g.104190758G>C	GRCh37
NC_000009.10:g.103230579G>C	NCBI36
NG_012387.1:g.12305C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647789.2:c.372C>G MANE Select	ENSP00000497767.1:p.Thr124=
ENST00000648064.1:c.372C>G	ENSP00000497990.1:p.Thr124=
ENST00000648758.1:c.372C>G	ENSP00000497731.1:p.Thr124=
ENST00000649902.1:c.372C>G	ENSP00000497216.1:p.Thr124=
ENST00000374855.8:c.372C>G	ENSP00000363988.4:p.Thr124=
ENST00000468981.3:n.67+1333C>G
ENST00000616752.1:c.372C>G	ENSP00000481363.1:p.Thr124=
NM_000035.3:c.372C>G	NP_000026.2:p.Thr124=
NM_000035.4:c.372C>G MANE Select	NP_000026.2:p.Thr124=