Canonical Allele Identifier: CA2452073

Gene: PRKCD

Linked Data

• ClinVar Variation Id: 440191
• ClinVar RCV Id: RCV000506287 ; RCV001081059
• dbSNP Id: rs33911937
• ExAC: 3:53220000 A / G
• gnomAD v2: 3-53220000-A-G
• gnomAD v3: 3-53185984-A-G
• gnomAD v4: 3-53185984-A-G
• MyVariant Identifiers: chr3:g.53220000A>G (hg19) ; chr3:g.53185984A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53185984A>G , CM000665.2:g.53185984A>G	GRCh38
NC_000003.11:g.53220000A>G , CM000665.1:g.53220000A>G	GRCh37
NC_000003.10:g.53195040A>G	NCBI36
NG_033864.1:g.29778A>G
NG_033864.2:g.34976A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697588.1:c.1043A>G	ENSP00000513355.1:p.Asn348Ser
ENST00000697589.1:n.1047A>G
ENST00000330452.8:c.1043A>G MANE Select	ENSP00000331602.3:p.Asn348Ser
ENST00000650739.1:c.1043A>G	ENSP00000498623.1:p.Asn348Ser
ENST00000651505.1:c.784A>G
ENST00000652449.1:c.1043A>G	ENSP00000498400.1:p.Asn348Ser
ENST00000654719.1:c.1043A>G	ENSP00000499558.1:p.Asn348Ser
ENST00000330452.7:c.1043A>G	ENSP00000331602.3:p.Asn348Ser
ENST00000394729.6:c.1043A>G	ENSP00000378217.2:p.Asn348Ser
NM_001316327.1:c.1043A>G	NP_001303256.1:p.Asn348Ser
NM_006254.3:c.1043A>G	NP_006245.2:p.Asn348Ser
NM_212539.1:c.1043A>G	NP_997704.1:p.Asn348Ser
XM_006713257.2:c.1091A>G	XP_006713320.1:p.Asn364Ser
XM_006713259.2:c.1043A>G	XP_006713322.1:p.Asn348Ser
XR_940474.1:n.1005-183A>G
NM_001354676.1:c.1100A>G	NP_001341605.1:p.Asn367Ser
NM_001354678.1:c.1091A>G	NP_001341607.1:p.Asn364Ser
NM_001354679.1:c.1043A>G	NP_001341608.1:p.Asn348Ser
NM_001354680.1:c.1043A>G	NP_001341609.1:p.Asn348Ser
XR_002959550.1:n.1058-183A>G
NM_006254.4:c.1043A>G MANE Select	NP_006245.2:p.Asn348Ser
NM_001316327.2:c.1043A>G	NP_001303256.1:p.Asn348Ser
NM_001354676.2:c.1100A>G	NP_001341605.1:p.Asn367Ser
NM_001354678.2:c.1091A>G	NP_001341607.1:p.Asn364Ser
NM_001354679.2:c.1043A>G	NP_001341608.1:p.Asn348Ser
NM_001354680.2:c.1043A>G	NP_001341609.1:p.Asn348Ser
NM_212539.2:c.1043A>G	NP_997704.1:p.Asn348Ser