{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA341257",
  "communityStandardTitle": [
    "NM_002739.5(PRKCG):c.301C>T (p.His101Tyr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28283[alleleid]",
        "alleleId": 28283,
        "preferredName": "NM_002739.5(PRKCG):c.301C>T (p.His101Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13244",
        "RCV": [
          "RCV000014149",
          "RCV001268861"
        ],
        "variationId": 13244
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.54392907C>T?assembly=hg19",
        "id": "chr19:g.54392907C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.53889653C>T?assembly=hg38",
        "id": "chr19:g.53889653C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121918511",
        "rs": 121918511
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 53889653,
          "referenceAllele": "C",
          "start": 53889652
        }
      ],
      "hgvs": [
        "NC_000019.10:g.53889653C>T",
        "CM000681.2:g.53889653C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 54392907,
          "referenceAllele": "C",
          "start": 54392906
        }
      ],
      "hgvs": [
        "NC_000019.9:g.54392907C>T",
        "CM000681.1:g.54392907C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 59084719,
          "referenceAllele": "C",
          "start": 59084718
        }
      ],
      "hgvs": [
        "NC_000019.8:g.59084719C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12441,
          "referenceAllele": "C",
          "start": 12440
        }
      ],
      "hgvs": [
        "NG_009114.1:g.12441C>T",
        "LRG_669:g.12441C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001448"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 607,
          "referenceAllele": "C",
          "start": 606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009402",
      "geneNCBI_id": 5582,
      "geneSymbol": "PRKCG",
      "hgvs": [
        "ENST00000682028.1:c.301C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507230.1:p.His101Tyr",
        "hgvsWellDefined": "ENSP00000507230.1:p.His101Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827026"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 599,
          "referenceAllele": "C",
          "start": 598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009402",
      "geneNCBI_id": 5582,
      "geneSymbol": "PRKCG",
      "hgvs": [
        "ENST00000682268.1:n.599C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827263"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 603,
          "referenceAllele": "C",
          "start": 602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009402",
      "geneNCBI_id": 5582,
      "geneSymbol": "PRKCG",
      "hgvs": [
        "ENST00000682902.1:n.603C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827890"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 599,
          "referenceAllele": "C",
          "start": 598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009402",
      "geneNCBI_id": 5582,
      "geneSymbol": "PRKCG",
      "hgvs": [
        "ENST00000683513.1:c.301C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506809.1:p.His101Tyr",
        "hgvsWellDefined": "ENSP00000506809.1:p.His101Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828487"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 599,
          "referenceAllele": "C",
          "start": 598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009402",
      "geneNCBI_id": 5582,
      "geneSymbol": "PRKCG",
      "hgvs": [
        "ENST00000263431.4:c.301C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263431.3:p.His101Tyr",
        "hgvsWellDefined": "ENSP00000263431.3:p.His101Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742517",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000263431.4:c.301C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002739.5:c.301C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000263431.3:p.His101Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_002730.1:p.His101Tyr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 583,
          "referenceAllele": "C",
          "start": 582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009402",
      "geneNCBI_id": 5582,
      "geneSymbol": "PRKCG",
      "hgvs": [
        "ENST00000263431.3:c.301C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263431.3:p.His101Tyr",
        "hgvsWellDefined": "ENSP00000263431.3:p.His101Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251271"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 370,
          "referenceAllele": "C",
          "start": 369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009402",
      "geneNCBI_id": 5582,
      "geneSymbol": "PRKCG",
      "hgvs": [
        "ENST00000419486.1:c.-84C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387919.2:n.-84C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285906"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 296,
          "referenceAllele": "C",
          "start": 295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009402",
      "geneNCBI_id": 5582,
      "geneSymbol": "PRKCG",
      "hgvs": [
        "ENST00000474397.5:c.-84C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000471271.1:n.-84C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS315927"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 430,
          "referenceAllele": "C",
          "start": 429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009402",
      "geneNCBI_id": 5582,
      "geneSymbol": "PRKCG",
      "hgvs": [
        "ENST00000479081.5:c.-84C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000471544.1:n.-84C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS319541"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826955237",
      "coordinates": [
        {
          "allele": "T",
          "end": 612,
          "referenceAllele": "C",
          "start": 611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009402",
      "geneNCBI_id": 5582,
      "geneSymbol": "PRKCG",
      "hgvs": [
        "NM_001316329.1:c.301C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001303258.1:p.His101Tyr",
        "hgvsWellDefined": "NP_001303258.1:p.His101Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026578"
    },
    {
      "@id": "http://reg.genome.network/allele/PA106846",
      "coordinates": [
        {
          "allele": "T",
          "end": 583,
          "referenceAllele": "C",
          "start": 582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009402",
      "geneNCBI_id": 5582,
      "geneSymbol": "PRKCG",
      "hgvs": [
        "NM_002739.3:c.301C>T",
        "LRG_669t1:c.301C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002730.1:p.His101Tyr",
        "hgvsWellDefined": "NP_002730.1:p.His101Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028025"
    },
    {
      "@id": "http://reg.genome.network/allele/PA106846",
      "coordinates": [
        {
          "allele": "T",
          "end": 612,
          "referenceAllele": "C",
          "start": 611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009402",
      "geneNCBI_id": 5582,
      "geneSymbol": "PRKCG",
      "hgvs": [
        "NM_002739.4:c.301C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002730.1:p.His101Tyr",
        "hgvsWellDefined": "NP_002730.1:p.His101Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028026"
    },
    {
      "@id": "http://reg.genome.network/allele/PA106846",
      "coordinates": [
        {
          "allele": "T",
          "end": 599,
          "referenceAllele": "C",
          "start": 598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009402",
      "geneNCBI_id": 5582,
      "geneSymbol": "PRKCG",
      "hgvs": [
        "NM_002739.5:c.301C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002730.1:p.His101Tyr",
        "hgvsWellDefined": "NP_002730.1:p.His101Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665683",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000263431.4:c.301C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002739.5:c.301C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000263431.3:p.His101Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_002730.1:p.His101Tyr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826955237",
      "coordinates": [
        {
          "allele": "T",
          "end": 599,
          "referenceAllele": "C",
          "start": 598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009402",
      "geneNCBI_id": 5582,
      "geneSymbol": "PRKCG",
      "hgvs": [
        "NM_001316329.2:c.301C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001303258.1:p.His101Tyr",
        "hgvsWellDefined": "NP_001303258.1:p.His101Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684164"
    }
  ],
  "type": "nucleotide"
}