Canonical Allele Identifier: CA5093209
Gene: VPS13A HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.77344204G>A
GRCh37 chr9:g.79959120G>A
Revel Score:
ENST00000376634 0.206
ENST00000376636 0.206
ENST00000360280 (MANE Select) 0.206
ENST00000357409 0.206
gnomAD v2:
9:79959120 G / A
gnomAD v3:
9:77344204 G / A
gnomAD v4:
chr9-77344204-G-A
Joint Max Group AF 0.00331263 (SAS)
Genomes Max Group AF 0.00159464 (SAS)
Exomes Max Group AF 0.00335377 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77344204G>A , CM000671.2:g.77344204G>A GRCh38
NC_000009.11:g.79959120G>A , CM000671.1:g.79959120G>A GRCh37
NC_000009.10:g.79148940G>A NCBI36
NG_008931.1:g.171760G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360280.8:c.7078G>A MANE Select ENSP00000353422.3:p.Glu2360Lys
ENST00000643348.1:c.7078G>A ENSP00000493592.1:p.Glu2360Lys
ENST00000645632.1:c.7078G>A ENSP00000496361.1:p.Glu2360Lys
ENST00000357409.9:c.7078G>A ENSP00000349985.5:p.Glu2360Lys
ENST00000360280.7:c.7078G>A ENSP00000353422.3:p.Glu2360Lys
ENST00000376634.8:c.7078G>A ENSP00000365821.4:p.Glu2360Lys
ENST00000376636.7:c.6961G>A ENSP00000365823.3:p.Glu2321Lys
NM_001018037.1:c.6961G>A NP_001018047.1:p.Glu2321Lys
NM_001018038.2:c.7078G>A NP_001018048.1:p.Glu2360Lys
NM_015186.3:c.7078G>A NP_056001.1:p.Glu2360Lys
NM_033305.2:c.7078G>A NP_150648.2:p.Glu2360Lys
XR_242579.2:n.7430G>A
XR_242580.3:n.7430G>A
XR_929740.1:n.7430G>A
XR_001746259.1:n.7430G>A
XR_001746260.1:n.7430G>A
NM_033305.3:c.7078G>A MANE Select NP_150648.2:p.Glu2360Lys
NM_001018037.2:c.6961G>A NP_001018047.1:p.Glu2321Lys
NM_001018038.3:c.7078G>A NP_001018048.1:p.Glu2360Lys
NM_015186.4:c.7078G>A NP_056001.1:p.Glu2360Lys
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