Canonical Allele Identifier: CA344603
Gene: PRKCG HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.53906876T>G
GRCh37 chr19:g.54410130T>G
Revel Score:
ENST00000540413 0.315
ENST00000263431 (MANE Select) 0.315
ENST00000542049 0.315
gnomAD v2:
19:54410130 T / G
gnomAD v3:
19:53906876 T / G
gnomAD v4:
chr19-53906876-T-G
Joint Max Group AF 0.00017986 (NFE)
Genomes Max Group AF 0.00003763 (NFE)
Exomes Max Group AF 0.00018552 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.53906876T>G , CM000681.2:g.53906876T>G GRCh38
NC_000019.9:g.54410130T>G , CM000681.1:g.54410130T>G GRCh37
NC_000019.8:g.59101942T>G NCBI36
NG_009114.1:g.29664T>G , LRG_669:g.29664T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682028.1:c.2075T>G ENSP00000507230.1:p.Val692Gly
ENST00000682676.1:n.1476T>G
ENST00000683513.1:c.1967T>G ENSP00000506809.1:p.Val656Gly
ENST00000263431.4:c.2075T>G MANE Select ENSP00000263431.3:p.Val692Gly
ENST00000263431.3:c.2075T>G ENSP00000263431.3:p.Val692Gly
NM_001316329.1:c.2075T>G NP_001303258.1:p.Val692Gly
NM_002739.3:c.2075T>G , LRG_669t1:c.2075T>G NP_002730.1:p.Val692Gly
NM_002739.4:c.2075T>G NP_002730.1:p.Val692Gly
XM_011527108.1:c.1166T>G XP_011525410.1:p.Val389Gly
NM_002739.5:c.2075T>G MANE Select NP_002730.1:p.Val692Gly
NM_001316329.2:c.2075T>G NP_001303258.1:p.Val692Gly
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