Canonical Allele Identifier: CA5161722

Gene: ALDOB

Linked Data

• ClinVar Variation Id: 1513041
• ClinVar RCV Id: RCV002023331 ; RCV003418338
• dbSNP Id: rs748663340
• ExAC: 9:104192249 C / G
• gnomAD v2: 9-104192249-C-G
• gnomAD v3: 9-101429967-C-G
• gnomAD v4: 9-101429967-C-G
• MyVariant Identifiers: chr9:g.104192249C>G (hg19) ; chr9:g.101429967C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.101429967C>G , CM000671.2:g.101429967C>G	GRCh38
NC_000009.11:g.104192249C>G , CM000671.1:g.104192249C>G	GRCh37
NC_000009.10:g.103232070C>G	NCBI36
NG_012387.1:g.10814G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647789.2:c.113-1G>C MANE Select	ENSP00000497767.1:n.113-1G>C
ENST00000648064.1:c.113-1G>C	ENSP00000497990.1:n.113-1G>C
ENST00000648423.1:c.113-1G>C	ENSP00000497985.1:n.113-1G>C
ENST00000648758.1:c.113-1G>C	ENSP00000497731.1:n.113-1G>C
ENST00000648906.1:n.283-1G>C
ENST00000649902.1:c.113-1G>C	ENSP00000497216.1:n.113-1G>C
ENST00000650613.1:n.189-1G>C
ENST00000374855.8:c.113-1G>C	ENSP00000363988.4:n.113-1G>C
ENST00000616752.1:c.113-1G>C	ENSP00000481363.1:n.113-1G>C
NM_000035.3:c.113-1G>C	NP_000026.2:n.113-1G>C
NM_000035.4:c.113-1G>C MANE Select	NP_000026.2:n.113-1G>C