{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2091748461",
  "communityStandardTitle": [
    "NM_018676.4(THSD1):c.1378C= (p.Arg460=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/776400380",
        "rs": 776400380
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 52378592,
          "referenceAllele": "G",
          "start": 52378591
        }
      ],
      "hgvs": [
        "NC_000013.11:g.52378592G=",
        "CM000675.2:g.52378592G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 52952727,
          "referenceAllele": "G",
          "start": 52952726
        }
      ],
      "hgvs": [
        "NC_000013.10:g.52952727G=",
        "CM000675.1:g.52952727G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 51850728,
          "referenceAllele": "G",
          "start": 51850727
        }
      ],
      "hgvs": [
        "NC_000013.9:g.51850728G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 32903,
          "referenceAllele": "C",
          "start": 32902
        }
      ],
      "hgvs": [
        "NG_047168.1:g.32903C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616687"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1601,
          "referenceAllele": "C",
          "start": 1600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017754",
      "geneNCBI_id": 55901,
      "geneSymbol": "THSD1",
      "hgvs": [
        "ENST00000258613.5:c.1378C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258613.4:p.Arg460="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741923",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258613.5:c.1378C="
          },
          "RefSeq": {
            "hgvs": "NM_018676.4:c.1378C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258613.4:p.Arg460="
          },
          "RefSeq": {
            "hgvs": "NP_061146.1:p.Arg460="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1657,
          "referenceAllele": "C",
          "start": 1656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017754",
      "geneNCBI_id": 55901,
      "geneSymbol": "THSD1",
      "hgvs": [
        "ENST00000648254.1:c.1219C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497520.1:p.Arg407="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769865"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1557,
          "referenceAllele": "C",
          "start": 1556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017754",
      "geneNCBI_id": 55901,
      "geneSymbol": "THSD1",
      "hgvs": [
        "ENST00000258613.4:c.1378C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258613.4:p.Arg460="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250405"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1764,
          "referenceAllele": "C",
          "start": 1763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017754",
      "geneNCBI_id": 55901,
      "geneSymbol": "THSD1",
      "hgvs": [
        "ENST00000349258.8:c.1219C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340650.4:p.Arg407="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262566"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3080751887",
      "coordinates": [
        {
          "allele": "C",
          "end": 1923,
          "referenceAllele": "C",
          "start": 1922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017754",
      "geneNCBI_id": 55901,
      "geneSymbol": "THSD1",
      "hgvs": [
        "NM_018676.3:c.1378C="
      ],
      "proteinEffect": {
        "hgvs": "NP_061146.1:p.Arg460="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035849"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1764,
          "referenceAllele": "C",
          "start": 1763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017754",
      "geneNCBI_id": 55901,
      "geneSymbol": "THSD1",
      "hgvs": [
        "NM_199263.2:c.1219C="
      ],
      "proteinEffect": {
        "hgvs": "NP_954872.1:p.Arg407="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044895"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3080751887",
      "coordinates": [
        {
          "allele": "C",
          "end": 1601,
          "referenceAllele": "C",
          "start": 1600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017754",
      "geneNCBI_id": 55901,
      "geneSymbol": "THSD1",
      "hgvs": [
        "NM_018676.4:c.1378C="
      ],
      "proteinEffect": {
        "hgvs": "NP_061146.1:p.Arg460="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669721",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258613.5:c.1378C="
          },
          "RefSeq": {
            "hgvs": "NM_018676.4:c.1378C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258613.4:p.Arg460="
          },
          "RefSeq": {
            "hgvs": "NP_061146.1:p.Arg460="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1442,
          "referenceAllele": "C",
          "start": 1441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017754",
      "geneNCBI_id": 55901,
      "geneSymbol": "THSD1",
      "hgvs": [
        "NM_199263.3:c.1219C="
      ],
      "proteinEffect": {
        "hgvs": "NP_954872.1:p.Arg407="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701476"
    }
  ],
  "type": "nucleotide"
}