Canonical Allele Identifier: CA5161378

Gene: ALDOB

Linked Data

• ClinVar Variation Id: 364307
• ClinVar RCV Id: RCV000343917 ; RCV001718785
• dbSNP Id: rs201867948
• ExAC: 9:104184079 G / A
• gnomAD v2: 9-104184079-G-A
• gnomAD v3: 9-101421797-G-A
• gnomAD v4: 9-101421797-G-A
• MyVariant Identifiers: chr9:g.104184079G>A (hg19) ; chr9:g.101421797G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.101421797G>A , CM000671.2:g.101421797G>A	GRCh38
NC_000009.11:g.104184079G>A , CM000671.1:g.104184079G>A	GRCh37
NC_000009.10:g.103223900G>A	NCBI36
NG_012387.1:g.18984C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647789.2:c.*12C>T MANE Select	ENSP00000497767.1:n.*12C>T
ENST00000648064.1:c.*12C>T	ENSP00000497990.1:n.*12C>T
ENST00000648758.1:c.*12C>T	ENSP00000497731.1:n.*12C>T
ENST00000374855.8:c.*12C>T	ENSP00000363988.4:n.*12C>T
ENST00000616752.1:c.*119C>T	ENSP00000481363.1:n.*119C>T
NM_000035.3:c.*12C>T	NP_000026.2:n.*12C>T
NM_000035.4:c.*12C>T MANE Select	NP_000026.2:n.*12C>T