Canonical Allele Identifier: CA5161455

Gene: ALDOB

Linked Data

• ClinVar Variation Id: 432193
• ClinVar RCV Id: RCV000498914 ; RCV000667124
• dbSNP Id: rs199965465
• ExAC: 9:104187326 T / G
• gnomAD v2: 9-104187326-T-G
• gnomAD v3: 9-101425044-T-G
• gnomAD v4: 9-101425044-T-G
• MyVariant Identifiers: chr9:g.104187326T>G (hg19) ; chr9:g.101425044T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.101425044T>G , CM000671.2:g.101425044T>G	GRCh38
NC_000009.11:g.104187326T>G , CM000671.1:g.104187326T>G	GRCh37
NC_000009.10:g.103227147T>G	NCBI36
NG_012387.1:g.15737A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647789.2:c.800-2A>C MANE Select	ENSP00000497767.1:n.800-2A>C
ENST00000648064.1:c.800-2A>C	ENSP00000497990.1:n.800-2A>C
ENST00000648758.1:c.800-2A>C	ENSP00000497731.1:n.800-2A>C
ENST00000649902.1:c.800-2A>C	ENSP00000497216.1:n.800-2A>C
ENST00000374855.8:c.800-2A>C	ENSP00000363988.4:n.800-2A>C
ENST00000616752.1:c.800-2A>C	ENSP00000481363.1:n.800-2A>C
NM_000035.3:c.800-2A>C	NP_000026.2:n.800-2A>C
NM_000035.4:c.800-2A>C MANE Select	NP_000026.2:n.800-2A>C