Canonical Allele Identifier: CA5093275

Gene: VPS13A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.77345126G>A , CM000671.2:g.77345126G>A	GRCh38
NC_000009.11:g.79960042G>A , CM000671.1:g.79960042G>A	GRCh37
NC_000009.10:g.79149862G>A	NCBI36
NG_008931.1:g.172682G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_033305.3:c.7273G>A MANE Select	NP_150648.2:p.Val2425Ile
ENST00000360280.8:c.7273G>A MANE Select	ENSP00000353422.3:p.Val2425Ile
NM_001018037.1:c.7156G>A	NP_001018047.1:p.Val2386Ile
NM_001018037.2:c.7156G>A	NP_001018047.1:p.Val2386Ile
NM_001018038.2:c.7273G>A	NP_001018048.1:p.Val2425Ile
NM_001018038.3:c.7273G>A	NP_001018048.1:p.Val2425Ile
NM_015186.3:c.7273G>A	NP_056001.1:p.Val2425Ile
NM_015186.4:c.7273G>A	NP_056001.1:p.Val2425Ile
NM_033305.2:c.7273G>A	NP_150648.2:p.Val2425Ile
ENST00000357409.9:c.7273G>A	ENSP00000349985.5:p.Val2425Ile
ENST00000360280.7:c.7273G>A	ENSP00000353422.3:p.Val2425Ile
ENST00000376634.8:c.7273G>A	ENSP00000365821.4:p.Val2425Ile
ENST00000376636.7:c.7156G>A	ENSP00000365823.3:p.Val2386Ile
ENST00000643348.1:c.7273G>A	ENSP00000493592.1:p.Val2425Ile
ENST00000645632.1:c.7273G>A	ENSP00000496361.1:p.Val2425Ile
XR_001746259.1:n.7625G>A
XR_001746260.1:n.7625G>A
XR_242579.2:n.7625G>A
XR_242580.3:n.7625G>A
XR_929740.1:n.7625G>A