Canonical Allele Identifier: CA373852675
Gene: VPS13A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77302997T>A , CM000671.2:g.77302997T>A GRCh38
NC_000009.11:g.79917913T>A , CM000671.1:g.79917913T>A GRCh37
NC_000009.10:g.79107733T>A NCBI36
NG_008931.1:g.130553T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360280.8:c.3895T>A MANE Select ENSP00000353422.3:p.Leu1299Ile
ENST00000643348.1:c.3895T>A ENSP00000493592.1:p.Leu1299Ile
ENST00000645632.1:c.3895T>A ENSP00000496361.1:p.Leu1299Ile
ENST00000357409.9:c.3895T>A ENSP00000349985.5:p.Leu1299Ile
ENST00000360280.7:c.3895T>A ENSP00000353422.3:p.Leu1299Ile
ENST00000376634.8:c.3895T>A ENSP00000365821.4:p.Leu1299Ile
ENST00000376636.7:c.3778T>A ENSP00000365823.3:p.Leu1260Ile
ENST00000423463.6:n.1185T>A
ENST00000493341.1:c.403T>A ENSP00000437478.1:p.Leu135Ile
NM_001018037.1:c.3778T>A NP_001018047.1:p.Leu1260Ile
NM_001018038.2:c.3895T>A NP_001018048.1:p.Leu1299Ile
NM_015186.3:c.3895T>A NP_056001.1:p.Leu1299Ile
NM_033305.2:c.3895T>A NP_150648.2:p.Leu1299Ile
XR_242579.2:n.4247T>A
XR_242580.3:n.4247T>A
XR_929740.1:n.4247T>A
XR_001746259.1:n.4247T>A
XR_001746260.1:n.4247T>A
NM_033305.3:c.3895T>A MANE Select NP_150648.2:p.Leu1299Ile
NM_001018037.2:c.3778T>A NP_001018047.1:p.Leu1260Ile
NM_001018038.3:c.3895T>A NP_001018048.1:p.Leu1299Ile
NM_015186.4:c.3895T>A NP_056001.1:p.Leu1299Ile