Canonical Allele Identifier: CA2690376083

Gene: VPS13A

Linked Data

• gnomAD v4: 9-77360648-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.77360648C>A , CM000671.2:g.77360648C>A	GRCh38
NC_000009.11:g.79975564C>A , CM000671.1:g.79975564C>A	GRCh37
NC_000009.10:g.79165384C>A	NCBI36
NG_008931.1:g.188204C>A

Transcript Alleles

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