Canonical Allele Identifier: CA5093974

Gene: VPS13A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.77403280T>C , CM000671.2:g.77403280T>C	GRCh38
NC_000009.11:g.80018196T>C , CM000671.1:g.80018196T>C	GRCh37
NC_000009.10:g.79208016T>C	NCBI36
NG_008931.1:g.230836T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_033305.3:c.9234T>C MANE Select	NP_150648.2:p.His3078=
ENST00000360280.8:c.9234T>C MANE Select	ENSP00000353422.3:p.His3078=
NM_001018037.1:c.9117T>C	NP_001018047.1:p.His3039=
NM_001018037.2:c.9117T>C	NP_001018047.1:p.His3039=
NM_033305.2:c.9234T>C	NP_150648.2:p.His3078=
ENST00000360280.7:c.9234T>C	ENSP00000353422.3:p.His3078=
ENST00000376636.7:c.9117T>C	ENSP00000365823.3:p.His3039=
ENST00000376646.3:c.42T>C	ENSP00000365834.3:p.His14=
ENST00000484581.6:c.42T>C	ENSP00000446020.1:p.His14=
XR_001746259.1:n.9683T>C
XR_001746260.1:n.9773T>C
XR_929740.1:n.9773T>C