Canonical Allele Identifier: CA5094016

Gene: VPS13A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.77405902T>A , CM000671.2:g.77405902T>A	GRCh38
NC_000009.11:g.80020818T>A , CM000671.1:g.80020818T>A	GRCh37
NC_000009.10:g.79210638T>A	NCBI36
NG_008931.1:g.233458T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_033305.3:c.9314T>A MANE Select	NP_150648.2:p.Leu3105His
ENST00000360280.8:c.9314T>A MANE Select	ENSP00000353422.3:p.Leu3105His
NM_001018037.1:c.9197T>A	NP_001018047.1:p.Leu3066His
NM_001018037.2:c.9197T>A	NP_001018047.1:p.Leu3066His
NM_033305.2:c.9314T>A	NP_150648.2:p.Leu3105His
ENST00000360280.7:c.9314T>A	ENSP00000353422.3:p.Leu3105His
ENST00000376636.7:c.9197T>A	ENSP00000365823.3:p.Leu3066His
ENST00000376646.3:c.122T>A	ENSP00000365834.3:p.Leu41His
ENST00000484581.6:c.122T>A	ENSP00000446020.1:p.Leu41His
XR_001746259.1:n.9763T>A
XR_001746260.1:n.9853T>A