Canonical Allele Identifier: CA373853971

Gene: VPS13A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.77403309T>G , CM000671.2:g.77403309T>G	GRCh38
NC_000009.11:g.80018225T>G , CM000671.1:g.80018225T>G	GRCh37
NC_000009.10:g.79208045T>G	NCBI36
NG_008931.1:g.230865T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_033305.3:c.9263T>G MANE Select	NP_150648.2:p.Met3088Arg
ENST00000360280.8:c.9263T>G MANE Select	ENSP00000353422.3:p.Met3088Arg
NM_001018037.1:c.9146T>G	NP_001018047.1:p.Met3049Arg
NM_001018037.2:c.9146T>G	NP_001018047.1:p.Met3049Arg
NM_033305.2:c.9263T>G	NP_150648.2:p.Met3088Arg
ENST00000360280.7:c.9263T>G	ENSP00000353422.3:p.Met3088Arg
ENST00000376636.7:c.9146T>G	ENSP00000365823.3:p.Met3049Arg
ENST00000376646.3:c.71T>G	ENSP00000365834.3:p.Met24Arg
ENST00000484581.6:c.71T>G	ENSP00000446020.1:p.Met24Arg
XR_001746259.1:n.9712T>G
XR_001746260.1:n.9802T>G
XR_929740.1:n.9802T>G