Canonical Allele Identifier: CA5091468

Gene: VPS13A

Linked Data

• dbSNP Id: rs759710959
• ExAC: 9:79834830 A / C
• gnomAD v2: 9-79834830-A-C
• gnomAD v4: 9-77219914-A-C
• MyVariant Identifiers: chr9:g.79834830A>C (hg19) ; chr9:g.77219914A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.77219914A>C , CM000671.2:g.77219914A>C	GRCh38
NC_000009.11:g.79834830A>C , CM000671.1:g.79834830A>C	GRCh37
NC_000009.10:g.79024650A>C	NCBI36
NG_008931.1:g.47470A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000360280.8:c.755-40A>C MANE Select	ENSP00000353422.3:n.755-40A>C
ENST00000643348.1:c.755-40A>C	ENSP00000493592.1:n.755-40A>C
ENST00000645632.1:c.755-40A>C	ENSP00000496361.1:n.755-40A>C
ENST00000357409.9:c.755-40A>C	ENSP00000349985.5:n.755-40A>C
ENST00000360280.7:c.755-40A>C	ENSP00000353422.3:n.755-40A>C
ENST00000376634.8:c.755-40A>C	ENSP00000365821.4:n.755-40A>C
ENST00000376636.7:c.755-40A>C	ENSP00000365823.3:n.755-40A>C
NM_001018037.1:c.755-40A>C	NP_001018047.1:n.755-40A>C
NM_001018038.2:c.755-40A>C	NP_001018048.1:n.755-40A>C
NM_015186.3:c.755-40A>C	NP_056001.1:n.755-40A>C
NM_033305.2:c.755-40A>C	NP_150648.2:n.755-40A>C
XR_242579.2:n.1107-40A>C
XR_242580.3:n.1107-40A>C
XR_929740.1:n.1107-40A>C
XR_001746259.1:n.1107-40A>C
XR_001746260.1:n.1107-40A>C
NM_033305.3:c.755-40A>C MANE Select	NP_150648.2:n.755-40A>C
NM_001018037.2:c.755-40A>C	NP_001018047.1:n.755-40A>C
NM_001018038.3:c.755-40A>C	NP_001018048.1:n.755-40A>C
NM_015186.4:c.755-40A>C	NP_056001.1:n.755-40A>C