Canonical Allele Identifier: CA5093579

Gene: VPS13A

Linked Data

• ClinVar Variation Id: 367420
• ClinVar RCV Id: RCV000265073 ; RCV002058813
• dbSNP Id: rs771085531
• ExAC: 9:79980361 G / A
• gnomAD v2: 9-79980361-G-A
• gnomAD v3: 9-77365445-G-A
• gnomAD v4: 9-77365445-G-A
• MyVariant Identifiers: chr9:g.79980361G>A (hg19) ; chr9:g.77365445G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.77365445G>A , CM000671.2:g.77365445G>A	GRCh38
NC_000009.11:g.79980361G>A , CM000671.1:g.79980361G>A	GRCh37
NC_000009.10:g.79170181G>A	NCBI36
NG_008931.1:g.193001G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360280.8:c.8212-15G>A MANE Select	ENSP00000353422.3:n.8212-15G>A
ENST00000643348.1:c.8212-15G>A	ENSP00000493592.1:n.8212-15G>A
ENST00000645632.1:c.8212-15G>A	ENSP00000496361.1:n.8212-15G>A
ENST00000357409.9:c.8212-15G>A	ENSP00000349985.5:n.8212-15G>A
ENST00000360280.7:c.8212-15G>A	ENSP00000353422.3:n.8212-15G>A
ENST00000376634.8:c.8212-15G>A	ENSP00000365821.4:n.8212-15G>A
ENST00000376636.7:c.8095-15G>A	ENSP00000365823.3:n.8095-15G>A
NM_001018037.1:c.8095-15G>A	NP_001018047.1:n.8095-15G>A
NM_001018038.2:c.8212-15G>A	NP_001018048.1:n.8212-15G>A
NM_015186.3:c.8212-15G>A	NP_056001.1:n.8212-15G>A
NM_033305.2:c.8212-15G>A	NP_150648.2:n.8212-15G>A
XR_242579.2:n.8564-15G>A
XR_242580.3:n.8564-15G>A
XR_929740.1:n.8564-15G>A
XR_001746259.1:n.8564-15G>A
XR_001746260.1:n.8564-15G>A
NM_033305.3:c.8212-15G>A MANE Select	NP_150648.2:n.8212-15G>A
NM_001018037.2:c.8095-15G>A	NP_001018047.1:n.8095-15G>A
NM_001018038.3:c.8212-15G>A	NP_001018048.1:n.8212-15G>A
NM_015186.4:c.8212-15G>A	NP_056001.1:n.8212-15G>A