Canonical Allele Identifier: CA9640291
Gene: PRKCG HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.53889901T>C
GRCh37 chr19:g.54393155T>C
Revel Score:
ENST00000536044 0.687
ENST00000540413 0.687
ENST00000263431 (MANE Select) 0.687
ENST00000419486 0.687
ENST00000542049 0.687
gnomAD v2:
19:54393155 T / C
gnomAD v3:
19:53889901 T / C
gnomAD v4:
chr19-53889901-T-C
Joint Max Group AF 0.00005344 (SAS)
Exomes Max Group AF 0.00004766 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.53889901T>C , CM000681.2:g.53889901T>C GRCh38
NC_000019.9:g.54393155T>C , CM000681.1:g.54393155T>C GRCh37
NC_000019.8:g.59084967T>C NCBI36
NG_009114.1:g.12689T>C , LRG_669:g.12689T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682028.1:c.413T>C ENSP00000507230.1:p.Val138Ala
ENST00000682268.1:n.711T>C
ENST00000682902.1:n.715T>C
ENST00000683513.1:c.413T>C ENSP00000506809.1:p.Val138Ala
ENST00000263431.4:c.413T>C MANE Select ENSP00000263431.3:p.Val138Ala
ENST00000263431.3:c.413T>C ENSP00000263431.3:p.Val138Ala
ENST00000419486.1:c.29T>C ENSP00000387919.2:p.Val10Ala
ENST00000474397.5:c.29T>C ENSP00000471271.1:p.Val10Ala
ENST00000479081.5:c.29T>C ENSP00000471544.1:p.Val10Ala
NM_001316329.1:c.413T>C NP_001303258.1:p.Val138Ala
NM_002739.3:c.413T>C , LRG_669t1:c.413T>C NP_002730.1:p.Val138Ala
NM_002739.4:c.413T>C NP_002730.1:p.Val138Ala
NM_002739.5:c.413T>C MANE Select NP_002730.1:p.Val138Ala
NM_001316329.2:c.413T>C NP_001303258.1:p.Val138Ala
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