{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA9444311",
  "communityStandardTitle": [
    "NM_181882.3(PRX):c.1174C>T (p.Arg392Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=996689",
        "active": true,
        "id": "COSM996689"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=245137[alleleid]",
        "alleleId": 245137,
        "preferredName": "NM_181882.3(PRX):c.1174C>T (p.Arg392Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/245870",
        "RCV": [
          "RCV000235669",
          "RCV000789534",
          "RCV001057364"
        ],
        "variationId": 245870
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/19-40903085-G-A",
        "id": "19-40903085-G-A",
        "variant": "19:40903085 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.40903085G>A?assembly=hg19",
        "id": "chr19:g.40903085G>A"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.40903085_40903086delinsAA?assembly=hg19",
        "id": "chr19:g.40903085_40903086delinsAA"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.40397178G>A?assembly=hg38",
        "id": "chr19:g.40397178G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/773009397",
        "rs": 773009397
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-40903085-G-A?dataset=gnomad_r2_1",
        "id": "19-40903085-G-A",
        "variant": "19:40903085 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-40397178-G-A?dataset=gnomad_r4",
        "id": "19-40397178-G-A",
        "variant": "19:40397178 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 40397178,
          "referenceAllele": "G",
          "start": 40397177
        }
      ],
      "hgvs": [
        "NC_000019.10:g.40397178G>A",
        "CM000681.2:g.40397178G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 40903085,
          "referenceAllele": "G",
          "start": 40903084
        }
      ],
      "hgvs": [
        "NC_000019.9:g.40903085G>A",
        "CM000681.1:g.40903085G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 45594925,
          "referenceAllele": "G",
          "start": 45594924
        }
      ],
      "hgvs": [
        "NC_000019.8:g.45594925G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 21187,
          "referenceAllele": "C",
          "start": 21186
        }
      ],
      "hgvs": [
        "NG_007979.1:g.21187C>T",
        "LRG_265:g.21187C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000747"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1457,
          "referenceAllele": "C",
          "start": 1456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013797",
      "geneNCBI_id": 57716,
      "geneSymbol": "PRX",
      "hgvs": [
        "ENST00000324001.8:c.1174C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326018.6:p.Arg392Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746601",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000324001.8:c.1174C>T"
          },
          "RefSeq": {
            "hgvs": "NM_181882.3:c.1174C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000326018.6:p.Arg392Ter"
          },
          "RefSeq": {
            "hgvs": "NP_870998.2:p.Arg392Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1573,
          "referenceAllele": "C",
          "start": 1572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013797",
      "geneNCBI_id": 57716,
      "geneSymbol": "PRX",
      "hgvs": [
        "ENST00000673881.1:c.757C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501070.1:p.Arg253Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773939"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1510,
          "referenceAllele": "C",
          "start": 1509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013797",
      "geneNCBI_id": 57716,
      "geneSymbol": "PRX",
      "hgvs": [
        "ENST00000674005.2:c.1459C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501261.1:p.Arg487Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774039"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1023,
          "referenceAllele": "C",
          "start": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013797",
      "geneNCBI_id": 57716,
      "geneSymbol": "PRX",
      "hgvs": [
        "ENST00000674773.1:c.757C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502579.1:p.Arg253Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774689"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1049,
          "referenceAllele": "C",
          "start": 1048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013797",
      "geneNCBI_id": 57716,
      "geneSymbol": "PRX",
      "hgvs": [
        "ENST00000675517.1:c.1049C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775326"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1035,
          "referenceAllele": "C",
          "start": 1034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013797",
      "geneNCBI_id": 57716,
      "geneSymbol": "PRX",
      "hgvs": [
        "ENST00000676076.1:c.1035C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775811"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1136,
          "referenceAllele": "C",
          "start": 1135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013797",
      "geneNCBI_id": 57716,
      "geneSymbol": "PRX",
      "hgvs": [
        "ENST00000676260.1:c.1136C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775970"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1061,
          "referenceAllele": "C",
          "start": 1060
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013797",
      "geneNCBI_id": 57716,
      "geneSymbol": "PRX",
      "hgvs": [
        "ENST00000676316.1:c.1061C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2092,
          "referenceAllele": "C",
          "start": 2091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013797",
      "geneNCBI_id": 57716,
      "geneSymbol": "PRX",
      "hgvs": [
        "ENST00000291825.11:c.*1379C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000291825.6:n.*1379C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253765"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1445,
          "referenceAllele": "C",
          "start": 1444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013797",
      "geneNCBI_id": 57716,
      "geneSymbol": "PRX",
      "hgvs": [
        "ENST00000324001.7:c.1174C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326018.6:p.Arg392Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258283"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2092,
          "referenceAllele": "C",
          "start": 2091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013797",
      "geneNCBI_id": 57716,
      "geneSymbol": "PRX",
      "hgvs": [
        "NM_020956.2:c.*1379C>T",
        "LRG_265t1:c.*1379C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_066007.1:n.*1379C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036720"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1443,
          "referenceAllele": "C",
          "start": 1442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013797",
      "geneNCBI_id": 57716,
      "geneSymbol": "PRX",
      "hgvs": [
        "NM_181882.2:c.1174C>T",
        "LRG_265t2:c.1174C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_870998.2:p.Arg392Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043920"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1435,
          "referenceAllele": "C",
          "start": 1434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013797",
      "geneNCBI_id": 57716,
      "geneSymbol": "PRX",
      "hgvs": [
        "XM_011527171.1:c.1174C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525473.1:p.Arg392Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094265"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1435,
          "referenceAllele": "C",
          "start": 1434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013797",
      "geneNCBI_id": 57716,
      "geneSymbol": "PRX",
      "hgvs": [
        "XM_011527171.2:c.1174C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525473.1:p.Arg392Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548559"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1594,
          "referenceAllele": "C",
          "start": 1593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013797",
      "geneNCBI_id": 57716,
      "geneSymbol": "PRX",
      "hgvs": [
        "XM_017027046.1:c.1072C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016882535.1:p.Arg358Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577044"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1137,
          "referenceAllele": "C",
          "start": 1136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013797",
      "geneNCBI_id": 57716,
      "geneSymbol": "PRX",
      "hgvs": [
        "XM_017027047.1:c.1072C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016882536.1:p.Arg358Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577045"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1457,
          "referenceAllele": "C",
          "start": 1456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013797",
      "geneNCBI_id": 57716,
      "geneSymbol": "PRX",
      "hgvs": [
        "NM_181882.3:c.1174C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_870998.2:p.Arg392Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701039",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000324001.8:c.1174C>T"
          },
          "RefSeq": {
            "hgvs": "NM_181882.3:c.1174C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000326018.6:p.Arg392Ter"
          },
          "RefSeq": {
            "hgvs": "NP_870998.2:p.Arg392Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}