Canonical Allele Identifier: CA338475311

Gene: VPS13D

Linked Data

• ClinVar Variation Id: 1933113
• ClinVar RCV Id: RCV002635790
• gnomAD v4: 1-12244321-G-C
• MyVariant Identifiers: chr1:g.12304378G>C (hg19) ; chr1:g.12244321G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.12244321G>C , CM000663.2:g.12244321G>C	GRCh38
NC_000001.10:g.12304378G>C , CM000663.1:g.12304378G>C	GRCh37
NC_000001.9:g.12226965G>C	NCBI36
NG_056877.1:g.19283G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620676.6:c.251G>C MANE Select	ENSP00000478104.1:p.Ser84Thr
ENST00000613099.4:c.251G>C	ENSP00000482233.1:p.Ser84Thr
ENST00000620676.4:c.251G>C	ENSP00000478104.1:p.Ser84Thr
NM_015378.3:c.251G>C	NP_056193.2:p.Ser84Thr
NM_018156.3:c.251G>C	NP_060626.2:p.Ser84Thr
NM_015378.4:c.251G>C MANE Select	NP_056193.2:p.Ser84Thr
NM_018156.4:c.251G>C	NP_060626.2:p.Ser84Thr