Canonical Allele Identifier: CA601300

Gene: VPS13D

Linked Data

• ClinVar Variation Id: 2175874
• ClinVar RCV Id: RCV002605847
• dbSNP Id: rs148067811
• ExAC: 1:12316413 G / A
• gnomAD v2: 1-12316413-G-A
• gnomAD v3: 1-12256356-G-A
• gnomAD v4: 1-12256356-G-A
• MyVariant Identifiers: chr1:g.12316413G>A (hg19) ; chr1:g.12256356G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.12256356G>A , CM000663.2:g.12256356G>A	GRCh38
NC_000001.10:g.12316413G>A , CM000663.1:g.12316413G>A	GRCh37
NC_000001.9:g.12239000G>A	NCBI36
NG_056877.1:g.31318G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620676.6:c.693G>A MANE Select	ENSP00000478104.1:p.Glu231=
ENST00000489961.1:n.174G>A
ENST00000613099.4:c.693G>A	ENSP00000482233.1:p.Glu231=
ENST00000620676.4:c.693G>A	ENSP00000478104.1:p.Glu231=
NM_015378.3:c.693G>A	NP_056193.2:p.Glu231=
NM_018156.3:c.693G>A	NP_060626.2:p.Glu231=
NM_015378.4:c.693G>A MANE Select	NP_056193.2:p.Glu231=
NM_018156.4:c.693G>A	NP_060626.2:p.Glu231=