Canonical Allele Identifier: CA601162

Gene: VPS13D

Linked Data

• ClinVar Variation Id: 1029392
• ClinVar RCV Id: RCV001330664 ; RCV002546402
• dbSNP Id: rs776251343
• ExAC: 1:12304420 A / G
• gnomAD v2: 1-12304420-A-G
• gnomAD v3: 1-12244363-A-G
• gnomAD v4: 1-12244363-A-G
• MyVariant Identifiers: chr1:g.12304420A>G (hg19) ; chr1:g.12244363A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.12244363A>G , CM000663.2:g.12244363A>G	GRCh38
NC_000001.10:g.12304420A>G , CM000663.1:g.12304420A>G	GRCh37
NC_000001.9:g.12227007A>G	NCBI36
NG_056877.1:g.19325A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620676.6:c.293A>G MANE Select	ENSP00000478104.1:p.Asn98Ser
ENST00000613099.4:c.293A>G	ENSP00000482233.1:p.Asn98Ser
ENST00000620676.4:c.293A>G	ENSP00000478104.1:p.Asn98Ser
NM_015378.3:c.293A>G	NP_056193.2:p.Asn98Ser
NM_018156.3:c.293A>G	NP_060626.2:p.Asn98Ser
NM_015378.4:c.293A>G MANE Select	NP_056193.2:p.Asn98Ser
NM_018156.4:c.293A>G	NP_060626.2:p.Asn98Ser