Canonical Allele Identifier: CA5094055

Gene: VPS13A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.77407536C>T , CM000671.2:g.77407536C>T	GRCh38
NC_000009.11:g.80022452C>T , CM000671.1:g.80022452C>T	GRCh37
NC_000009.10:g.79212272C>T	NCBI36
NG_008931.1:g.235092C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_033305.3:c.9403C>T MANE Select	NP_150648.2:p.Arg3135Ter
ENST00000360280.8:c.9403C>T MANE Select	ENSP00000353422.3:p.Arg3135Ter
NM_001018037.1:c.9286C>T	NP_001018047.1:p.Arg3096Ter
NM_001018037.2:c.9286C>T	NP_001018047.1:p.Arg3096Ter
NM_033305.2:c.9403C>T	NP_150648.2:p.Arg3135Ter
ENST00000360280.7:c.9403C>T	ENSP00000353422.3:p.Arg3135Ter
ENST00000376636.7:c.9286C>T	ENSP00000365823.3:p.Arg3096Ter
ENST00000376646.3:c.211C>T	ENSP00000365834.3:p.Arg71Ter
ENST00000467124.1:c.24C>T
ENST00000484581.6:c.211C>T	ENSP00000446020.1:p.Arg71Ter
XR_001746259.1:n.9852C>T
XR_001746260.1:n.9942C>T