Canonical Allele Identifier: CA5161584

Gene: ALDOB

Linked Data

• ClinVar Variation Id: 517884
• ClinVar RCV Id: RCV000608947 ; RCV000897044
• dbSNP Id: rs186836225
• ExAC: 9:104189803 G / A
• gnomAD v2: 9-104189803-G-A
• gnomAD v3: 9-101427521-G-A
• gnomAD v4: 9-101427521-G-A
• COSMIC: COSM3167203
• MyVariant Identifiers: chr9:g.104189803G>A (hg19) ; chr9:g.101427521G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.101427521G>A , CM000671.2:g.101427521G>A	GRCh38
NC_000009.11:g.104189803G>A , CM000671.1:g.104189803G>A	GRCh37
NC_000009.10:g.103229624G>A	NCBI36
NG_012387.1:g.13260C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647789.2:c.501C>T MANE Select	ENSP00000497767.1:p.Asn167=
ENST00000648064.1:c.501C>T	ENSP00000497990.1:p.Asn167=
ENST00000648758.1:c.501C>T	ENSP00000497731.1:p.Asn167=
ENST00000649902.1:c.501C>T	ENSP00000497216.1:p.Asn167=
ENST00000374855.8:c.501C>T	ENSP00000363988.4:p.Asn167=
ENST00000468981.3:n.68-883C>T
ENST00000616752.1:c.501C>T	ENSP00000481363.1:p.Asn167=
NM_000035.3:c.501C>T	NP_000026.2:p.Asn167=
NM_000035.4:c.501C>T MANE Select	NP_000026.2:p.Asn167=