Canonical Allele Identifier: CA5093983

Gene: VPS13A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.77403320C>T , CM000671.2:g.77403320C>T	GRCh38
NC_000009.11:g.80018236C>T , CM000671.1:g.80018236C>T	GRCh37
NC_000009.10:g.79208056C>T	NCBI36
NG_008931.1:g.230876C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_033305.3:c.9274C>T MANE Select	NP_150648.2:p.Arg3092Cys
ENST00000360280.8:c.9274C>T MANE Select	ENSP00000353422.3:p.Arg3092Cys
NM_001018037.1:c.9157C>T	NP_001018047.1:p.Arg3053Cys
NM_001018037.2:c.9157C>T	NP_001018047.1:p.Arg3053Cys
NM_033305.2:c.9274C>T	NP_150648.2:p.Arg3092Cys
ENST00000360280.7:c.9274C>T	ENSP00000353422.3:p.Arg3092Cys
ENST00000376636.7:c.9157C>T	ENSP00000365823.3:p.Arg3053Cys
ENST00000376646.3:c.82C>T	ENSP00000365834.3:p.Arg28Cys
ENST00000484581.6:c.82C>T	ENSP00000446020.1:p.Arg28Cys
XR_001746259.1:n.9723C>T
XR_001746260.1:n.9813C>T
XR_929740.1:n.9813C>T