{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16602639",
  "communityStandardTitle": [
    "NM_006206.6(PDGFRA):c.2533C>T (p.His845Tyr)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=96893",
        "active": true,
        "id": "COSM96893"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=363063[alleleid]",
        "alleleId": 363063,
        "preferredName": "NM_006206.6(PDGFRA):c.2533C>T (p.His845Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/376184",
        "RCV": [
          "RCV000427776",
          "RCV003638649"
        ],
        "variationId": 376184
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.55152101C>T?assembly=hg19",
        "id": "chr4:g.55152101C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.54285934C>T?assembly=hg38",
        "id": "chr4:g.54285934C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057519814",
        "rs": 1057519814
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 54285934,
          "referenceAllele": "C",
          "start": 54285933
        }
      ],
      "hgvs": [
        "NC_000004.12:g.54285934C>T",
        "CM000666.2:g.54285934C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 55152101,
          "referenceAllele": "C",
          "start": 55152100
        }
      ],
      "hgvs": [
        "NC_000004.11:g.55152101C>T",
        "CM000666.1:g.55152101C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 54846858,
          "referenceAllele": "C",
          "start": 54846857
        }
      ],
      "hgvs": [
        "NC_000004.10:g.54846858C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 61838,
          "referenceAllele": "C",
          "start": 61837
        }
      ],
      "hgvs": [
        "NG_009250.1:g.61838C>T",
        "LRG_309:g.61838C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001520"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2668,
          "referenceAllele": "C",
          "start": 2667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008803",
      "geneNCBI_id": 5156,
      "geneSymbol": "PDGFRA",
      "hgvs": [
        "ENST00000257290.10:c.2533C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257290.5:p.His845Tyr",
        "hgvsWellDefined": "ENSP00000257290.5:p.His845Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741826",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000257290.10:c.2533C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006206.6:c.2533C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000257290.5:p.His845Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_006197.1:p.His845Tyr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2864,
          "referenceAllele": "C",
          "start": 2863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008803",
      "geneNCBI_id": 5156,
      "geneSymbol": "PDGFRA",
      "hgvs": [
        "ENST00000257290.9:c.2533C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257290.5:p.His845Tyr",
        "hgvsWellDefined": "ENSP00000257290.5:p.His845Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250259"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1813,
          "referenceAllele": "C",
          "start": 1812
        }
      ],
      "hgvs": [
        "ENST00000507166.5:c.1813C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423325.1:p.His605Tyr",
        "hgvsWellDefined": "ENSP00000423325.1:p.His605Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS338521"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645425092",
      "coordinates": [
        {
          "allele": "T",
          "end": 2864,
          "referenceAllele": "C",
          "start": 2863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008803",
      "geneNCBI_id": 5156,
      "geneSymbol": "PDGFRA",
      "hgvs": [
        "NM_006206.4:c.2533C>T",
        "LRG_309t1:c.2533C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006197.1:p.His845Tyr",
        "hgvsWellDefined": "NP_006197.1:p.His845Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031231"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2648,
          "referenceAllele": "C",
          "start": 2647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008803",
      "geneNCBI_id": 5156,
      "geneSymbol": "PDGFRA",
      "hgvs": [
        "XM_005265743.1:c.2533C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265800.1:p.His845Tyr",
        "hgvsWellDefined": "XP_005265800.1:p.His845Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064767"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2898,
          "referenceAllele": "C",
          "start": 2897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008803",
      "geneNCBI_id": 5156,
      "geneSymbol": "PDGFRA",
      "hgvs": [
        "XM_006714039.2:c.2608C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714102.1:p.His870Tyr",
        "hgvsWellDefined": "XP_006714102.1:p.His870Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070471"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2564,
          "referenceAllele": "C",
          "start": 2563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008803",
      "geneNCBI_id": 5156,
      "geneSymbol": "PDGFRA",
      "hgvs": [
        "XM_011534385.1:c.2533C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532687.1:p.His845Tyr",
        "hgvsWellDefined": "XP_011532687.1:p.His845Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101403"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2564,
          "referenceAllele": "C",
          "start": 2563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008803",
      "geneNCBI_id": 5156,
      "geneSymbol": "PDGFRA",
      "hgvs": [
        "XM_011534386.1:c.2533C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532688.1:p.His845Tyr",
        "hgvsWellDefined": "XP_011532688.1:p.His845Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101404"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916029612",
      "coordinates": [
        {
          "allele": "T",
          "end": 2950,
          "referenceAllele": "C",
          "start": 2949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008803",
      "geneNCBI_id": 5156,
      "geneSymbol": "PDGFRA",
      "hgvs": [
        "NM_001347828.1:c.2608C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001334757.1:p.His870Tyr",
        "hgvsWellDefined": "NP_001334757.1:p.His870Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517840"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827412645",
      "coordinates": [
        {
          "allele": "T",
          "end": 2907,
          "referenceAllele": "C",
          "start": 2906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008803",
      "geneNCBI_id": 5156,
      "geneSymbol": "PDGFRA",
      "hgvs": [
        "NM_001347829.1:c.2533C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001334758.1:p.His845Tyr",
        "hgvsWellDefined": "NP_001334758.1:p.His845Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517841"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827414886",
      "coordinates": [
        {
          "allele": "T",
          "end": 3084,
          "referenceAllele": "C",
          "start": 3083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008803",
      "geneNCBI_id": 5156,
      "geneSymbol": "PDGFRA",
      "hgvs": [
        "NM_001347830.1:c.2572C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001334759.1:p.His858Tyr",
        "hgvsWellDefined": "NP_001334759.1:p.His858Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517842"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645425092",
      "coordinates": [
        {
          "allele": "T",
          "end": 2872,
          "referenceAllele": "C",
          "start": 2871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008803",
      "geneNCBI_id": 5156,
      "geneSymbol": "PDGFRA",
      "hgvs": [
        "NM_006206.5:c.2533C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006197.1:p.His845Tyr",
        "hgvsWellDefined": "NP_006197.1:p.His845Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525378"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645425092",
      "coordinates": [
        {
          "allele": "T",
          "end": 2668,
          "referenceAllele": "C",
          "start": 2667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008803",
      "geneNCBI_id": 5156,
      "geneSymbol": "PDGFRA",
      "hgvs": [
        "NM_006206.6:c.2533C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006197.1:p.His845Tyr",
        "hgvsWellDefined": "NP_006197.1:p.His845Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667338",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000257290.10:c.2533C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006206.6:c.2533C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000257290.5:p.His845Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_006197.1:p.His845Tyr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916029612",
      "coordinates": [
        {
          "allele": "T",
          "end": 2746,
          "referenceAllele": "C",
          "start": 2745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008803",
      "geneNCBI_id": 5156,
      "geneSymbol": "PDGFRA",
      "hgvs": [
        "NM_001347828.2:c.2608C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001334757.1:p.His870Tyr",
        "hgvsWellDefined": "NP_001334757.1:p.His870Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687495"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827412645",
      "coordinates": [
        {
          "allele": "T",
          "end": 2889,
          "referenceAllele": "C",
          "start": 2888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008803",
      "geneNCBI_id": 5156,
      "geneSymbol": "PDGFRA",
      "hgvs": [
        "NM_001347829.2:c.2533C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001334758.1:p.His845Tyr",
        "hgvsWellDefined": "NP_001334758.1:p.His845Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687496"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827414886",
      "coordinates": [
        {
          "allele": "T",
          "end": 3084,
          "referenceAllele": "C",
          "start": 3083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008803",
      "geneNCBI_id": 5156,
      "geneSymbol": "PDGFRA",
      "hgvs": [
        "NM_001347830.2:c.2572C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001334759.1:p.His858Tyr",
        "hgvsWellDefined": "NP_001334759.1:p.His858Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719062"
    }
  ],
  "type": "nucleotide"
}