Canonical Allele Identifier: CA5091999
Gene: VPS13A HGNC NCBI

Linked Data

ClinVar Variation Id: 367368
dbSNP Id: rs375898960
gnomAD v2: 9-79890579-C-T
gnomAD v3: 9-77275663-C-T
gnomAD v4: 9-77275663-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77275663C>T , CM000671.2:g.77275663C>T GRCh38
NC_000009.11:g.79890579C>T , CM000671.1:g.79890579C>T GRCh37
NC_000009.10:g.79080399C>T NCBI36
NG_008931.1:g.103219C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360280.8:c.2667+11C>T MANE Select ENSP00000353422.3:n.2667+11C>T
ENST00000643348.1:c.2667+11C>T ENSP00000493592.1:n.2667+11C>T
ENST00000645632.1:c.2667+11C>T ENSP00000496361.1:n.2667+11C>T
ENST00000357409.9:c.2667+11C>T ENSP00000349985.5:n.2667+11C>T
ENST00000360280.7:c.2667+11C>T ENSP00000353422.3:n.2667+11C>T
ENST00000376634.8:c.2667+11C>T ENSP00000365821.4:n.2667+11C>T
ENST00000376636.7:c.2667+11C>T ENSP00000365823.3:n.2667+11C>T
NM_001018037.1:c.2667+11C>T NP_001018047.1:n.2667+11C>T
NM_001018038.2:c.2667+11C>T NP_001018048.1:n.2667+11C>T
NM_015186.3:c.2667+11C>T NP_056001.1:n.2667+11C>T
NM_033305.2:c.2667+11C>T NP_150648.2:n.2667+11C>T
XR_242579.2:n.3019+11C>T
XR_242580.3:n.3019+11C>T
XR_929740.1:n.3019+11C>T
XR_001746259.1:n.3019+11C>T
XR_001746260.1:n.3019+11C>T
NM_033305.3:c.2667+11C>T MANE Select NP_150648.2:n.2667+11C>T
NM_001018037.2:c.2667+11C>T NP_001018047.1:n.2667+11C>T
NM_001018038.3:c.2667+11C>T NP_001018048.1:n.2667+11C>T
NM_015186.4:c.2667+11C>T NP_056001.1:n.2667+11C>T