{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1519822086",
  "communityStandardTitle": [
    "NM_003265.3(TLR3):c.1234C= (p.Leu412=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/3775291",
        "rs": 3775291
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 186082920,
          "referenceAllele": "C",
          "start": 186082919
        }
      ],
      "hgvs": [
        "NC_000004.12:g.186082920C=",
        "CM000666.2:g.186082920C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 187004074,
          "referenceAllele": "C",
          "start": 187004073
        }
      ],
      "hgvs": [
        "NC_000004.11:g.187004074C=",
        "CM000666.1:g.187004074C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 187241068,
          "referenceAllele": "C",
          "start": 187241067
        }
      ],
      "hgvs": [
        "NC_000004.10:g.187241068C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 18766,
          "referenceAllele": "C",
          "start": 18765
        }
      ],
      "hgvs": [
        "NG_007278.1:g.18766C=",
        "LRG_117:g.18766C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000526"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 831,
          "referenceAllele": "C",
          "start": 830
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011849",
      "geneNCBI_id": 7098,
      "geneSymbol": "TLR3",
      "hgvs": [
        "ENST00000508051.2:c.403C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513677.1:p.Leu135="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905514"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1209,
          "endIntronDirection": "+",
          "endIntronOffset": 370,
          "referenceAllele": "C",
          "start": 1209,
          "startIntronDirection": "+",
          "startIntronOffset": 369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011849",
      "geneNCBI_id": 7098,
      "geneSymbol": "TLR3",
      "hgvs": [
        "ENST00000698351.1:c.864+370C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513674.1:n.864+370C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909323"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1085,
          "referenceAllele": "C",
          "start": 1084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011849",
      "geneNCBI_id": 7098,
      "geneSymbol": "TLR3",
      "hgvs": [
        "ENST00000698352.1:c.*786C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513675.1:n.*786C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909324"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1109,
          "referenceAllele": "C",
          "start": 1108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011849",
      "geneNCBI_id": 7098,
      "geneSymbol": "TLR3",
      "hgvs": [
        "ENST00000698353.1:n.1109C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909325"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 737,
          "referenceAllele": "C",
          "start": 736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011849",
      "geneNCBI_id": 7098,
      "geneSymbol": "TLR3",
      "hgvs": [
        "ENST00000698354.1:c.403C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513676.1:p.Leu135="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909326"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1334,
          "referenceAllele": "C",
          "start": 1333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011849",
      "geneNCBI_id": 7098,
      "geneSymbol": "TLR3",
      "hgvs": [
        "ENST00000296795.8:c.1234C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000296795.3:p.Leu412="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744474",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000296795.8:c.1234C="
          },
          "RefSeq": {
            "hgvs": "NM_003265.3:c.1234C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000296795.3:p.Leu412="
          },
          "RefSeq": {
            "hgvs": "NP_003256.1:p.Leu412="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1338,
          "referenceAllele": "C",
          "start": 1337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011849",
      "geneNCBI_id": 7098,
      "geneSymbol": "TLR3",
      "hgvs": [
        "ENST00000296795.7:c.1234C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000296795.2:p.Leu412="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254385"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 813,
          "referenceAllele": "C",
          "start": 812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011849",
      "geneNCBI_id": 7098,
      "geneSymbol": "TLR3",
      "hgvs": [
        "ENST00000504367.1:c.403C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423684.1:p.Leu135="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS336446"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1310,
          "referenceAllele": "C",
          "start": 1309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011849",
      "geneNCBI_id": 7098,
      "geneSymbol": "TLR3",
      "hgvs": [
        "ENST00000512264.1:n.1310C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS342331"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1143,
          "referenceAllele": "C",
          "start": 1142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011849",
      "geneNCBI_id": 7098,
      "geneSymbol": "TLR3",
      "hgvs": [
        "ENST00000513189.1:c.1042C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423386.1:p.Leu348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS342996"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069873907",
      "coordinates": [
        {
          "allele": "C",
          "end": 1335,
          "referenceAllele": "C",
          "start": 1334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011849",
      "geneNCBI_id": 7098,
      "geneSymbol": "TLR3",
      "hgvs": [
        "NM_003265.2:c.1234C=",
        "LRG_117t1:c.1234C="
      ],
      "proteinEffect": {
        "hgvs": "NP_003256.1:p.Leu412="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028518"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069873907",
      "coordinates": [
        {
          "allele": "C",
          "end": 1334,
          "referenceAllele": "C",
          "start": 1333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011849",
      "geneNCBI_id": 7098,
      "geneSymbol": "TLR3",
      "hgvs": [
        "NM_003265.3:c.1234C="
      ],
      "proteinEffect": {
        "hgvs": "NP_003256.1:p.Leu412="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695771",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000296795.8:c.1234C="
          },
          "RefSeq": {
            "hgvs": "NM_003265.3:c.1234C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000296795.3:p.Leu412="
          },
          "RefSeq": {
            "hgvs": "NP_003256.1:p.Leu412="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}