{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA9444242",
  "communityStandardTitle": [
    "NM_181882.3(PRX):c.1546C>T (p.Arg516Trp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=245136[alleleid]",
        "alleleId": 245136,
        "preferredName": "NM_181882.3(PRX):c.1546C>T (p.Arg516Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/246316",
        "RCV": [
          "RCV000236385",
          "RCV000764202",
          "RCV000802296",
          "RCV001136189",
          "RCV002401925",
          "RCV003333056"
        ],
        "variationId": 246316
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/19-40902713-G-A",
        "id": "19-40902713-G-A",
        "variant": "19:40902713 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.40902713G>A?assembly=hg19",
        "id": "chr19:g.40902713G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.40396806G>A?assembly=hg38",
        "id": "chr19:g.40396806G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/144305922",
        "rs": 144305922
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-40902713-G-A?dataset=gnomad_r2_1",
        "id": "19-40902713-G-A",
        "variant": "19:40902713 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-40396806-G-A?dataset=gnomad_r3",
        "id": "19-40396806-G-A",
        "variant": "19:40396806 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-40396806-G-A?dataset=gnomad_r4",
        "id": "19-40396806-G-A",
        "variant": "19:40396806 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 40396806,
          "referenceAllele": "G",
          "start": 40396805
        }
      ],
      "hgvs": [
        "NC_000019.10:g.40396806G>A",
        "CM000681.2:g.40396806G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 40902713,
          "referenceAllele": "G",
          "start": 40902712
        }
      ],
      "hgvs": [
        "NC_000019.9:g.40902713G>A",
        "CM000681.1:g.40902713G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 45594553,
          "referenceAllele": "G",
          "start": 45594552
        }
      ],
      "hgvs": [
        "NC_000019.8:g.45594553G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 21559,
          "referenceAllele": "C",
          "start": 21558
        }
      ],
      "hgvs": [
        "NG_007979.1:g.21559C>T",
        "LRG_265:g.21559C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000747"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1829,
          "referenceAllele": "C",
          "start": 1828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013797",
      "geneNCBI_id": 57716,
      "geneSymbol": "PRX",
      "hgvs": [
        "ENST00000324001.8:c.1546C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326018.6:p.Arg516Trp",
        "hgvsWellDefined": "ENSP00000326018.6:p.Arg516Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746601",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000324001.8:c.1546C>T"
          },
          "RefSeq": {
            "hgvs": "NM_181882.3:c.1546C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000326018.6:p.Arg516Trp"
          },
          "RefSeq": {
            "hgvs": "NP_870998.2:p.Arg516Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1945,
          "referenceAllele": "C",
          "start": 1944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013797",
      "geneNCBI_id": 57716,
      "geneSymbol": "PRX",
      "hgvs": [
        "ENST00000673881.1:c.1129C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501070.1:p.Arg377Trp",
        "hgvsWellDefined": "ENSP00000501070.1:p.Arg377Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773939"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1882,
          "referenceAllele": "C",
          "start": 1881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013797",
      "geneNCBI_id": 57716,
      "geneSymbol": "PRX",
      "hgvs": [
        "ENST00000674005.2:c.1831C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501261.1:p.Arg611Trp",
        "hgvsWellDefined": "ENSP00000501261.1:p.Arg611Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774039"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1395,
          "referenceAllele": "C",
          "start": 1394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013797",
      "geneNCBI_id": 57716,
      "geneSymbol": "PRX",
      "hgvs": [
        "ENST00000674773.1:c.1129C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502579.1:p.Arg377Trp",
        "hgvsWellDefined": "ENSP00000502579.1:p.Arg377Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774689"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1421,
          "referenceAllele": "C",
          "start": 1420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013797",
      "geneNCBI_id": 57716,
      "geneSymbol": "PRX",
      "hgvs": [
        "ENST00000675517.1:c.1421C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775326"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1407,
          "referenceAllele": "C",
          "start": 1406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013797",
      "geneNCBI_id": 57716,
      "geneSymbol": "PRX",
      "hgvs": [
        "ENST00000676076.1:c.1407C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775811"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1508,
          "referenceAllele": "C",
          "start": 1507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013797",
      "geneNCBI_id": 57716,
      "geneSymbol": "PRX",
      "hgvs": [
        "ENST00000676260.1:c.1508C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775970"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1433,
          "referenceAllele": "C",
          "start": 1432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013797",
      "geneNCBI_id": 57716,
      "geneSymbol": "PRX",
      "hgvs": [
        "ENST00000676316.1:c.1433C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2464,
          "referenceAllele": "C",
          "start": 2463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013797",
      "geneNCBI_id": 57716,
      "geneSymbol": "PRX",
      "hgvs": [
        "ENST00000291825.11:c.*1751C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000291825.6:n.*1751C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253765"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1817,
          "referenceAllele": "C",
          "start": 1816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013797",
      "geneNCBI_id": 57716,
      "geneSymbol": "PRX",
      "hgvs": [
        "ENST00000324001.7:c.1546C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326018.6:p.Arg516Trp",
        "hgvsWellDefined": "ENSP00000326018.6:p.Arg516Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258283"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2464,
          "referenceAllele": "C",
          "start": 2463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013797",
      "geneNCBI_id": 57716,
      "geneSymbol": "PRX",
      "hgvs": [
        "NM_020956.2:c.*1751C>T",
        "LRG_265t1:c.*1751C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_066007.1:n.*1751C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036720"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645374440",
      "coordinates": [
        {
          "allele": "T",
          "end": 1815,
          "referenceAllele": "C",
          "start": 1814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013797",
      "geneNCBI_id": 57716,
      "geneSymbol": "PRX",
      "hgvs": [
        "NM_181882.2:c.1546C>T",
        "LRG_265t2:c.1546C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_870998.2:p.Arg516Trp",
        "hgvsWellDefined": "NP_870998.2:p.Arg516Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043920"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1807,
          "referenceAllele": "C",
          "start": 1806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013797",
      "geneNCBI_id": 57716,
      "geneSymbol": "PRX",
      "hgvs": [
        "XM_011527171.1:c.1546C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525473.1:p.Arg516Trp",
        "hgvsWellDefined": "XP_011525473.1:p.Arg516Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094265"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1807,
          "referenceAllele": "C",
          "start": 1806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013797",
      "geneNCBI_id": 57716,
      "geneSymbol": "PRX",
      "hgvs": [
        "XM_011527171.2:c.1546C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525473.1:p.Arg516Trp",
        "hgvsWellDefined": "XP_011525473.1:p.Arg516Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548559"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1966,
          "referenceAllele": "C",
          "start": 1965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013797",
      "geneNCBI_id": 57716,
      "geneSymbol": "PRX",
      "hgvs": [
        "XM_017027046.1:c.1444C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016882535.1:p.Arg482Trp",
        "hgvsWellDefined": "XP_016882535.1:p.Arg482Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577044"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1509,
          "referenceAllele": "C",
          "start": 1508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013797",
      "geneNCBI_id": 57716,
      "geneSymbol": "PRX",
      "hgvs": [
        "XM_017027047.1:c.1444C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016882536.1:p.Arg482Trp",
        "hgvsWellDefined": "XP_016882536.1:p.Arg482Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577045"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645374440",
      "coordinates": [
        {
          "allele": "T",
          "end": 1829,
          "referenceAllele": "C",
          "start": 1828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013797",
      "geneNCBI_id": 57716,
      "geneSymbol": "PRX",
      "hgvs": [
        "NM_181882.3:c.1546C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_870998.2:p.Arg516Trp",
        "hgvsWellDefined": "NP_870998.2:p.Arg516Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701039",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000324001.8:c.1546C>T"
          },
          "RefSeq": {
            "hgvs": "NM_181882.3:c.1546C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000326018.6:p.Arg516Trp"
          },
          "RefSeq": {
            "hgvs": "NP_870998.2:p.Arg516Trp"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}