Canonical Allele Identifier: CA5161445

Gene: ALDOB

Linked Data

• ClinVar Variation Id: 735205
• ClinVar RCV Id: RCV000910721
• dbSNP Id: rs202062631
• ExAC: 9:104187275 G / A
• gnomAD v2: 9-104187275-G-A
• gnomAD v3: 9-101424993-G-A
• gnomAD v4: 9-101424993-G-A
• MyVariant Identifiers: chr9:g.104187275G>A (hg19) ; chr9:g.101424993G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.101424993G>A , CM000671.2:g.101424993G>A	GRCh38
NC_000009.11:g.104187275G>A , CM000671.1:g.104187275G>A	GRCh37
NC_000009.10:g.103227096G>A	NCBI36
NG_012387.1:g.15788C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647789.2:c.849C>T MANE Select	ENSP00000497767.1:p.Asn283=
ENST00000648064.1:c.849C>T	ENSP00000497990.1:p.Asn283=
ENST00000648758.1:c.849C>T	ENSP00000497731.1:p.Asn283=
ENST00000649902.1:c.849C>T	ENSP00000497216.1:p.Asn283=
ENST00000374855.8:c.849C>T	ENSP00000363988.4:p.Asn283=
ENST00000616752.1:c.849C>T	ENSP00000481363.1:p.Asn283=
NM_000035.3:c.849C>T	NP_000026.2:p.Asn283=
NM_000035.4:c.849C>T MANE Select	NP_000026.2:p.Asn283=