Canonical Allele Identifier: CA1857146087

Gene: VPS13A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.77205394T= , CM000671.2:g.77205394T=	GRCh38
NC_000009.11:g.79820310T= , CM000671.1:g.79820310T=	GRCh37
NC_000009.10:g.79010130T=	NCBI36
NG_008931.1:g.32950T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360280.8:c.269T= MANE Select	ENSP00000353422.3:p.Ile90=
ENST00000643348.1:c.269T=	ENSP00000493592.1:p.Ile90=
ENST00000645632.1:c.269T=	ENSP00000496361.1:p.Ile90=
ENST00000357409.9:c.269T=	ENSP00000349985.5:p.Ile90=
ENST00000360280.7:c.269T=	ENSP00000353422.3:p.Ile90=
ENST00000376634.8:c.269T=	ENSP00000365821.4:p.Ile90=
ENST00000376636.7:c.269T=	ENSP00000365823.3:p.Ile90=
NM_001018037.1:c.269T=	NP_001018047.1:p.Ile90=
NM_001018038.2:c.269T=	NP_001018048.1:p.Ile90=
NM_015186.3:c.269T=	NP_056001.1:p.Ile90=
NM_033305.2:c.269T=	NP_150648.2:p.Ile90=
XR_242579.2:n.621T=
XR_242580.3:n.621T=
XR_929740.1:n.621T=
XR_001746259.1:n.621T=
XR_001746260.1:n.621T=
NM_033305.3:c.269T= MANE Select	NP_150648.2:p.Ile90=
NM_001018037.2:c.269T=	NP_001018047.1:p.Ile90=
NM_001018038.3:c.269T=	NP_001018048.1:p.Ile90=
NM_015186.4:c.269T=	NP_056001.1:p.Ile90=