Canonical Allele Identifier: CA505516963

Gene: PRKCSH

Linked Data

• ClinVar Variation Id: 1669258
• ClinVar RCV Id: RCV002198340
• dbSNP Id: rs1327973337
• gnomAD v3: 19-11449246-A-G
• gnomAD v4: 19-11449246-A-G
• MyVariant Identifiers: chr19:g.11560061A>G (hg19) ; chr19:g.11449246A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11449246A>G , CM000681.2:g.11449246A>G	GRCh38
NC_000019.9:g.11560061A>G , CM000681.1:g.11560061A>G	GRCh37
NC_000019.8:g.11421061A>G	NCBI36
NG_009300.1:g.18793A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000591462.6:c.1432-20A>G	ENSP00000465489.1:n.1432-20A>G
ENST00000677123.1:c.1462-20A>G MANE Select	ENSP00000503163.1:n.1462-20A>G
ENST00000586486.1:c.457-20A>G	ENSP00000465948.1:n.457-20A>G
ENST00000587290.5:n.624-20A>G
ENST00000587327.5:c.1432-20A>G	ENSP00000466012.1:n.1432-20A>G
ENST00000589838.5:c.1441-20A>G	ENSP00000465461.1:n.1441-20A>G
ENST00000591462.5:c.1432-20A>G	ENSP00000465489.1:n.1432-20A>G
ENST00000592435.1:n.356-20A>G
ENST00000592741.5:c.1462-20A>G	ENSP00000466134.1:n.1462-20A>G
NM_001001329.2:c.1432-20A>G	NP_001001329.1:n.1432-20A>G
NM_001289102.1:c.1432-20A>G	NP_001276031.1:n.1432-20A>G
NM_001289103.1:c.1462-20A>G	NP_001276032.1:n.1462-20A>G
NM_001289104.1:c.1462-20A>G	NP_001276033.1:n.1462-20A>G
NM_002743.3:c.1441-20A>G	NP_002734.2:n.1441-20A>G
XM_011528130.1:c.1462-20A>G	XP_011526432.1:n.1462-20A>G
XM_011528131.1:c.1441-20A>G	XP_011526433.1:n.1441-20A>G
XM_011528132.1:c.1432-20A>G	XP_011526434.1:n.1432-20A>G
XM_017026977.2:c.1441-20A>G	XP_016882466.1:n.1441-20A>G
XM_024451602.1:c.1432-20A>G	XP_024307370.1:n.1432-20A>G
NM_001001329.3:c.1432-20A>G	NP_001001329.1:n.1432-20A>G
NM_001289102.2:c.1432-20A>G	NP_001276031.1:n.1432-20A>G
NM_001289103.2:c.1462-20A>G	NP_001276032.1:n.1462-20A>G
NM_001289104.2:c.1462-20A>G MANE Select	NP_001276033.1:n.1462-20A>G
NM_001379608.1:c.1441-20A>G	NP_001366537.1:n.1441-20A>G
NM_001379609.1:c.1432-20A>G	NP_001366538.1:n.1432-20A>G