Canonical Allele Identifier: CA373851694

Gene: VPS13A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.77340221C>A , CM000671.2:g.77340221C>A	GRCh38
NC_000009.11:g.79955137C>A , CM000671.1:g.79955137C>A	GRCh37
NC_000009.10:g.79144957C>A	NCBI36
NG_008931.1:g.167777C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_033305.3:c.6818C>A MANE Select	NP_150648.2:p.Ser2273Ter
ENST00000360280.8:c.6818C>A MANE Select	ENSP00000353422.3:p.Ser2273Ter
NM_001018037.1:c.6701C>A	NP_001018047.1:p.Ser2234Ter
NM_001018037.2:c.6701C>A	NP_001018047.1:p.Ser2234Ter
NM_001018038.2:c.6818C>A	NP_001018048.1:p.Ser2273Ter
NM_001018038.3:c.6818C>A	NP_001018048.1:p.Ser2273Ter
NM_015186.3:c.6818C>A	NP_056001.1:p.Ser2273Ter
NM_015186.4:c.6818C>A	NP_056001.1:p.Ser2273Ter
NM_033305.2:c.6818C>A	NP_150648.2:p.Ser2273Ter
ENST00000357409.9:c.6818C>A	ENSP00000349985.5:p.Ser2273Ter
ENST00000360280.7:c.6818C>A	ENSP00000353422.3:p.Ser2273Ter
ENST00000376634.8:c.6818C>A	ENSP00000365821.4:p.Ser2273Ter
ENST00000376636.7:c.6701C>A	ENSP00000365823.3:p.Ser2234Ter
ENST00000539950.1:n.21C>A
ENST00000643348.1:c.6818C>A	ENSP00000493592.1:p.Ser2273Ter
ENST00000645632.1:c.6818C>A	ENSP00000496361.1:p.Ser2273Ter
XR_001746259.1:n.7170C>A
XR_001746260.1:n.7170C>A
XR_242579.2:n.7170C>A
XR_242580.3:n.7170C>A
XR_929740.1:n.7170C>A