Canonical Allele Identifier: CA13012946
Gene: VPS13A HGNC NCBI

Linked Data

dbSNP Id: rs11145338
gnomAD v2: 9-79826327-T-A
gnomAD v3: 9-77211411-T-A
gnomAD v4: 9-77211411-T-A
MyVariant Identifiers: chr9:g.79826327T>A (hg19) chr9:g.77211411T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77211411T>A , CM000671.2:g.77211411T>A GRCh38
NC_000009.11:g.79826327T>A , CM000671.1:g.79826327T>A GRCh37
NC_000009.10:g.79016147T>A NCBI36
NG_008931.1:g.38967T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000360280.8:c.555+736T>A MANE Select ENSP00000353422.3:n.555+736T>A
ENST00000643348.1:c.555+736T>A ENSP00000493592.1:n.555+736T>A
ENST00000645632.1:c.555+736T>A ENSP00000496361.1:n.555+736T>A
ENST00000357409.9:c.555+736T>A ENSP00000349985.5:n.555+736T>A
ENST00000360280.7:c.555+736T>A ENSP00000353422.3:n.555+736T>A
ENST00000376634.8:c.555+736T>A ENSP00000365821.4:n.555+736T>A
ENST00000376636.7:c.555+736T>A ENSP00000365823.3:n.555+736T>A
ENST00000471439.1:n.304T>A
NM_001018037.1:c.555+736T>A NP_001018047.1:n.555+736T>A
NM_001018038.2:c.555+736T>A NP_001018048.1:n.555+736T>A
NM_015186.3:c.555+736T>A NP_056001.1:n.555+736T>A
NM_033305.2:c.555+736T>A NP_150648.2:n.555+736T>A
XR_242579.2:n.907+736T>A
XR_242580.3:n.907+736T>A
XR_929740.1:n.907+736T>A
XR_001746259.1:n.907+736T>A
XR_001746260.1:n.907+736T>A
NM_033305.3:c.555+736T>A MANE Select NP_150648.2:n.555+736T>A
NM_001018037.2:c.555+736T>A NP_001018047.1:n.555+736T>A
NM_001018038.3:c.555+736T>A NP_001018048.1:n.555+736T>A
NM_015186.4:c.555+736T>A NP_056001.1:n.555+736T>A
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