Canonical Allele Identifier: CA10585980

Gene: PRKCD

Linked Data

• ClinVar Variation Id: 252661
• ClinVar RCV Id: RCV000239035 ; RCV001857837 ; RCV003165675
• dbSNP Id: rs879255393
• gnomAD v2: 3-53222768-G-A
• gnomAD v3: 3-53188752-G-A
• gnomAD v4: 3-53188752-G-A
• MyVariant Identifiers: chr3:g.53222768G>A (hg19) ; chr3:g.53188752G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53188752G>A , CM000665.2:g.53188752G>A	GRCh38
NC_000003.11:g.53222768G>A , CM000665.1:g.53222768G>A	GRCh37
NC_000003.10:g.53197808G>A	NCBI36
NG_033864.1:g.32546G>A
NG_033864.2:g.37744G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697588.1:c.*276G>A	ENSP00000513355.1:n.*276G>A
ENST00000697589.1:n.1452G>A
ENST00000697590.1:n.447G>A
ENST00000330452.8:c.1448G>A MANE Select	ENSP00000331602.3:p.Arg483Gln
ENST00000650739.1:c.1448G>A	ENSP00000498623.1:p.Arg483Gln
ENST00000651505.1:c.1189G>A
ENST00000652449.1:c.1448G>A	ENSP00000498400.1:p.Arg483Gln
ENST00000654719.1:c.1448G>A	ENSP00000499558.1:p.Arg483Gln
ENST00000330452.7:c.1448G>A	ENSP00000331602.3:p.Arg483Gln
ENST00000394729.6:c.1448G>A	ENSP00000378217.2:p.Arg483Gln
NM_001316327.1:c.1448G>A	NP_001303256.1:p.Arg483Gln
NM_006254.3:c.1448G>A	NP_006245.2:p.Arg483Gln
NM_212539.1:c.1448G>A	NP_997704.1:p.Arg483Gln
XM_006713257.2:c.1496G>A	XP_006713320.1:p.Arg499Gln
XM_006713259.2:c.1448G>A	XP_006713322.1:p.Arg483Gln
XR_940474.1:n.1366G>A
NM_001354676.1:c.1505G>A	NP_001341605.1:p.Arg502Gln
NM_001354678.1:c.1496G>A	NP_001341607.1:p.Arg499Gln
NM_001354679.1:c.1448G>A	NP_001341608.1:p.Arg483Gln
NM_001354680.1:c.1448G>A	NP_001341609.1:p.Arg483Gln
XR_002959550.1:n.1419G>A
NM_006254.4:c.1448G>A MANE Select	NP_006245.2:p.Arg483Gln
NM_001316327.2:c.1448G>A	NP_001303256.1:p.Arg483Gln
NM_001354676.2:c.1505G>A	NP_001341605.1:p.Arg502Gln
NM_001354678.2:c.1496G>A	NP_001341607.1:p.Arg499Gln
NM_001354679.2:c.1448G>A	NP_001341608.1:p.Arg483Gln
NM_001354680.2:c.1448G>A	NP_001341609.1:p.Arg483Gln
NM_212539.2:c.1448G>A	NP_997704.1:p.Arg483Gln