Canonical Allele Identifier: CA194394983

Gene: VPS13A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.77357752C>T , CM000671.2:g.77357752C>T	GRCh38
NC_000009.11:g.79972668C>T , CM000671.1:g.79972668C>T	GRCh37
NC_000009.10:g.79162488C>T	NCBI36
NG_008931.1:g.185308C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_033305.3:c.7867C>T MANE Select	NP_150648.2:p.Arg2623Ter
ENST00000360280.8:c.7867C>T MANE Select	ENSP00000353422.3:p.Arg2623Ter
NM_001018037.1:c.7750C>T	NP_001018047.1:p.Arg2584Ter
NM_001018037.2:c.7750C>T	NP_001018047.1:p.Arg2584Ter
NM_001018038.2:c.7867C>T	NP_001018048.1:p.Arg2623Ter
NM_001018038.3:c.7867C>T	NP_001018048.1:p.Arg2623Ter
NM_015186.3:c.7867C>T	NP_056001.1:p.Arg2623Ter
NM_015186.4:c.7867C>T	NP_056001.1:p.Arg2623Ter
NM_033305.2:c.7867C>T	NP_150648.2:p.Arg2623Ter
ENST00000357409.9:c.7867C>T	ENSP00000349985.5:p.Arg2623Ter
ENST00000360280.7:c.7867C>T	ENSP00000353422.3:p.Arg2623Ter
ENST00000376634.8:c.7867C>T	ENSP00000365821.4:p.Arg2623Ter
ENST00000376636.7:c.7750C>T	ENSP00000365823.3:p.Arg2584Ter
ENST00000643348.1:c.7867C>T	ENSP00000493592.1:p.Arg2623Ter
ENST00000645632.1:c.7867C>T	ENSP00000496361.1:p.Arg2623Ter
XR_001746259.1:n.8219C>T
XR_001746260.1:n.8219C>T
XR_242579.2:n.8219C>T
XR_242580.3:n.8219C>T
XR_929740.1:n.8219C>T