Canonical Allele Identifier: CA373854004

Gene: VPS13A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.77405862A>T , CM000671.2:g.77405862A>T	GRCh38
NC_000009.11:g.80020778A>T , CM000671.1:g.80020778A>T	GRCh37
NC_000009.10:g.79210598A>T	NCBI36
NG_008931.1:g.233418A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_033305.3:c.9276-2A>T MANE Select	NP_150648.2:n.9276-2A>T
ENST00000360280.8:c.9276-2A>T MANE Select	ENSP00000353422.3:n.9276-2A>T
NM_001018037.1:c.9159-2A>T	NP_001018047.1:n.9159-2A>T
NM_001018037.2:c.9159-2A>T	NP_001018047.1:n.9159-2A>T
NM_033305.2:c.9276-2A>T	NP_150648.2:n.9276-2A>T
ENST00000360280.7:c.9276-2A>T	ENSP00000353422.3:n.9276-2A>T
ENST00000376636.7:c.9159-2A>T	ENSP00000365823.3:n.9159-2A>T
ENST00000376646.3:c.84-2A>T	ENSP00000365834.3:n.84-2A>T
ENST00000484581.6:c.84-2A>T	ENSP00000446020.1:n.84-2A>T
XR_001746259.1:n.9725-2A>T
XR_001746260.1:n.9815-2A>T