Canonical Allele Identifier: CA5093564

Gene: VPS13A

Linked Data

• dbSNP Id: rs550788272
• ExAC: 9:79975580 T / G
• gnomAD v2: 9-79975580-T-G
• gnomAD v3: 9-77360664-T-G
• gnomAD v4: 9-77360664-T-G
• MyVariant Identifiers: chr9:g.79975580T>G (hg19) ; chr9:g.77360664T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.77360664T>G , CM000671.2:g.77360664T>G	GRCh38
NC_000009.11:g.79975580T>G , CM000671.1:g.79975580T>G	GRCh37
NC_000009.10:g.79165400T>G	NCBI36
NG_008931.1:g.188220T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000360280.8:c.8211+23T>G MANE Select	ENSP00000353422.3:n.8211+23T>G
ENST00000643348.1:c.8211+23T>G	ENSP00000493592.1:n.8211+23T>G
ENST00000645632.1:c.8211+23T>G	ENSP00000496361.1:n.8211+23T>G
ENST00000357409.9:c.8211+23T>G	ENSP00000349985.5:n.8211+23T>G
ENST00000360280.7:c.8211+23T>G	ENSP00000353422.3:n.8211+23T>G
ENST00000376634.8:c.8211+23T>G	ENSP00000365821.4:n.8211+23T>G
ENST00000376636.7:c.8094+23T>G	ENSP00000365823.3:n.8094+23T>G
NM_001018037.1:c.8094+23T>G	NP_001018047.1:n.8094+23T>G
NM_001018038.2:c.8211+23T>G	NP_001018048.1:n.8211+23T>G
NM_015186.3:c.8211+23T>G	NP_056001.1:n.8211+23T>G
NM_033305.2:c.8211+23T>G	NP_150648.2:n.8211+23T>G
XR_242579.2:n.8563+23T>G
XR_242580.3:n.8563+23T>G
XR_929740.1:n.8563+23T>G
XR_001746259.1:n.8563+23T>G
XR_001746260.1:n.8563+23T>G
NM_033305.3:c.8211+23T>G MANE Select	NP_150648.2:n.8211+23T>G
NM_001018037.2:c.8094+23T>G	NP_001018047.1:n.8094+23T>G
NM_001018038.3:c.8211+23T>G	NP_001018048.1:n.8211+23T>G
NM_015186.4:c.8211+23T>G	NP_056001.1:n.8211+23T>G