{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA122001",
  "communityStandardTitle": [
    "NM_002658.6(PLAU):c.422T= (p.Leu141=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=27304[alleleid]",
        "alleleId": 27304,
        "preferredName": "NM_002658.6(PLAU):c.422= (p.Leu141=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/12265",
        "RCV": [
          "RCV000013052",
          "RCV000948375"
        ],
        "variationId": 12265
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.75673101T>T?assembly=hg19",
        "id": "chr10:g.75673101T>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.73913343T>T?assembly=hg38",
        "id": "chr10:g.73913343T>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2227564",
        "rs": 2227564
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 73913343,
          "referenceAllele": "T",
          "start": 73913342
        }
      ],
      "hgvs": [
        "NC_000010.11:g.73913343T=",
        "CM000672.2:g.73913343T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 75673101,
          "referenceAllele": "T",
          "start": 75673100
        }
      ],
      "hgvs": [
        "NC_000010.10:g.75673101T=",
        "CM000672.1:g.75673101T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 75343107,
          "referenceAllele": "T",
          "start": 75343106
        }
      ],
      "hgvs": [
        "NC_000010.9:g.75343107T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 540,
          "referenceAllele": "T",
          "start": 539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009052",
      "geneNCBI_id": 5328,
      "geneSymbol": "PLAU",
      "hgvs": [
        "ENST00000372764.4:c.422T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361850.3:p.Leu141="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751077",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000372764.4:c.422T="
          },
          "RefSeq": {
            "hgvs": "NM_002658.6:c.422T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361850.3:p.Leu141="
          },
          "RefSeq": {
            "hgvs": "NP_002649.2:p.Leu141="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 515,
          "referenceAllele": "T",
          "start": 514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009052",
      "geneNCBI_id": 5328,
      "geneSymbol": "PLAU",
      "hgvs": [
        "ENST00000372764.3:c.422T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361850.3:p.Leu141="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269292"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 268,
          "endIntronDirection": "-",
          "endIntronOffset": 267,
          "referenceAllele": "A",
          "start": 268,
          "startIntronDirection": "-",
          "startIntronOffset": 268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031008",
      "geneNCBI_id": 414236,
      "geneSymbol": "C10orf55",
      "hgvs": [
        "ENST00000409178.5:n.269-268A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS281322"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 124,
          "endIntronDirection": "-",
          "endIntronOffset": 267,
          "referenceAllele": "A",
          "start": 124,
          "startIntronDirection": "-",
          "startIntronOffset": 268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031008",
      "geneNCBI_id": 414236,
      "geneSymbol": "C10orf55",
      "hgvs": [
        "ENST00000412307.3:c.-73-268A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000409225.2:n.-73-268A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282551"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 853,
          "referenceAllele": "T",
          "start": 852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009052",
      "geneNCBI_id": 5328,
      "geneSymbol": "PLAU",
      "hgvs": [
        "ENST00000446342.5:c.371T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388474.1:p.Leu124="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS298691"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 497,
          "referenceAllele": "T",
          "start": 496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009052",
      "geneNCBI_id": 5328,
      "geneSymbol": "PLAU",
      "hgvs": [
        "ENST00000494287.1:n.497T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331255"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 268,
          "endIntronDirection": "-",
          "endIntronOffset": 267,
          "referenceAllele": "A",
          "start": 268,
          "startIntronDirection": "-",
          "startIntronOffset": 268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031008",
      "geneNCBI_id": 414236,
      "geneSymbol": "C10orf55",
      "hgvs": [
        "NM_001001791.2:c.-73-268A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001001791.2:n.-73-268A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007143"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 566,
          "referenceAllele": "T",
          "start": 565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009052",
      "geneNCBI_id": 5328,
      "geneSymbol": "PLAU",
      "hgvs": [
        "XM_011539866.1:c.422T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011538168.1:p.Leu141="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106816"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 510,
          "referenceAllele": "T",
          "start": 509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009052",
      "geneNCBI_id": 5328,
      "geneSymbol": "PLAU",
      "hgvs": [
        "XM_011539867.1:c.164T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011538169.1:p.Leu55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106817"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 566,
          "referenceAllele": "T",
          "start": 565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009052",
      "geneNCBI_id": 5328,
      "geneSymbol": "PLAU",
      "hgvs": [
        "XM_011539866.2:c.422T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011538168.1:p.Leu141="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553835"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825879595",
      "coordinates": [
        {
          "allele": "T",
          "end": 825,
          "referenceAllele": "T",
          "start": 824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009052",
      "geneNCBI_id": 5328,
      "geneSymbol": "PLAU",
      "hgvs": [
        "NM_001145031.3:c.371T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001138503.2:p.Leu124="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677800"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827034287",
      "coordinates": [
        {
          "allele": "T",
          "end": 512,
          "referenceAllele": "T",
          "start": 511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009052",
      "geneNCBI_id": 5328,
      "geneSymbol": "PLAU",
      "hgvs": [
        "NM_001319191.2:c.164T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001306120.2:p.Leu55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684756"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829389525",
      "coordinates": [
        {
          "allele": "T",
          "end": 540,
          "referenceAllele": "T",
          "start": 539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009052",
      "geneNCBI_id": 5328,
      "geneSymbol": "PLAU",
      "hgvs": [
        "NM_002658.6:c.422T="
      ],
      "proteinEffect": {
        "hgvs": "NP_002649.2:p.Leu141="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695605",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000372764.4:c.422T="
          },
          "RefSeq": {
            "hgvs": "NM_002658.6:c.422T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361850.3:p.Leu141="
          },
          "RefSeq": {
            "hgvs": "NP_002649.2:p.Leu141="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 319,
          "endIntronDirection": "-",
          "endIntronOffset": 267,
          "referenceAllele": "A",
          "start": 319,
          "startIntronDirection": "-",
          "startIntronOffset": 268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031008",
      "geneNCBI_id": 414236,
      "geneSymbol": "C10orf55",
      "hgvs": [
        "NR_160937.1:n.320-268A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705243"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 268,
          "endIntronDirection": "-",
          "endIntronOffset": 267,
          "referenceAllele": "A",
          "start": 268,
          "startIntronDirection": "-",
          "startIntronOffset": 268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031008",
      "geneNCBI_id": 414236,
      "geneSymbol": "C10orf55",
      "hgvs": [
        "NR_160938.1:n.269-268A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705244"
    }
  ],
  "type": "nucleotide"
}