Canonical Allele Identifier: CA588651535

Gene: VPS13A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.77371157C>G , CM000671.2:g.77371157C>G	GRCh38
NC_000009.11:g.79986073C>G , CM000671.1:g.79986073C>G	GRCh37
NC_000009.10:g.79175893C>G	NCBI36
NG_008931.1:g.198713C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_033305.3:c.9077+8C>G MANE Select	NP_150648.2:n.9077+8C>G
ENST00000360280.8:c.9077+8C>G MANE Select	ENSP00000353422.3:n.9077+8C>G
NM_001018037.1:c.8960+8C>G	NP_001018047.1:n.8960+8C>G
NM_001018037.2:c.8960+8C>G	NP_001018047.1:n.8960+8C>G
NM_001018038.2:c.9077+8C>G	NP_001018048.1:n.9077+8C>G
NM_001018038.3:c.9077+8C>G	NP_001018048.1:n.9077+8C>G
NM_015186.3:c.9077+8C>G	NP_056001.1:n.9077+8C>G
NM_015186.4:c.9077+8C>G	NP_056001.1:n.9077+8C>G
NM_033305.2:c.9077+8C>G	NP_150648.2:n.9077+8C>G
ENST00000357409.9:c.9077+8C>G	ENSP00000349985.5:n.9077+8C>G
ENST00000360280.7:c.9077+8C>G	ENSP00000353422.3:n.9077+8C>G
ENST00000376634.8:c.9077+8C>G	ENSP00000365821.4:n.9077+8C>G
ENST00000376636.7:c.8960+8C>G	ENSP00000365823.3:n.8960+8C>G
ENST00000643348.1:c.9077+8C>G	ENSP00000493592.1:n.9077+8C>G
ENST00000645632.1:c.9077+8C>G	ENSP00000496361.1:n.9077+8C>G
XR_001746259.1:n.9429+8C>G
XR_001746260.1:n.9429+8C>G
XR_242579.2:n.9429+8C>G
XR_242580.3:n.9446+8C>G
XR_929740.1:n.9429+8C>G