Canonical Allele Identifier: CA2580079280

Gene: ALDOB

Linked Data

• ClinVar Variation Id: 2155571
• ClinVar RCV Id: RCV003072403

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.101424833A>G , CM000671.2:g.101424833A>G	GRCh38
NC_000009.11:g.104187115A>G , CM000671.1:g.104187115A>G	GRCh37
NC_000009.10:g.103226936A>G	NCBI36
NG_012387.1:g.15948T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647789.2:c.999+10T>C MANE Select	ENSP00000497767.1:n.999+10T>C
ENST00000648064.1:c.999+10T>C	ENSP00000497990.1:n.999+10T>C
ENST00000648758.1:c.999+10T>C	ENSP00000497731.1:n.999+10T>C
ENST00000649902.1:c.1009T>C	ENSP00000497216.1:p.Cys337Arg
ENST00000374855.8:c.999+10T>C	ENSP00000363988.4:n.999+10T>C
ENST00000616752.1:c.*11+10T>C	ENSP00000481363.1:n.*11+10T>C
NM_000035.3:c.999+10T>C	NP_000026.2:n.999+10T>C
NM_000035.4:c.999+10T>C MANE Select	NP_000026.2:n.999+10T>C