{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA14123968",
  "communityStandardTitle": [
    "NM_001012338.3(NTRK3):c.*8023C>T"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.88412143G>A?assembly=hg19",
        "id": "chr15:g.88412143G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.87868912G>A?assembly=hg38",
        "id": "chr15:g.87868912G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1017412",
        "rs": 1017412
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-88412143-G-A?dataset=gnomad_r2_1",
        "id": "15-88412143-G-A",
        "variant": "15:88412143 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-87868912-G-A?dataset=gnomad_r3",
        "id": "15-87868912-G-A",
        "variant": "15:87868912 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-87868912-G-A?dataset=gnomad_r4",
        "id": "15-87868912-G-A",
        "variant": "15:87868912 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 87868912,
          "referenceAllele": "G",
          "start": 87868911
        }
      ],
      "hgvs": [
        "NC_000015.10:g.87868912G>A",
        "CM000677.2:g.87868912G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 88412143,
          "referenceAllele": "G",
          "start": 88412142
        }
      ],
      "hgvs": [
        "NC_000015.9:g.88412143G>A",
        "CM000677.1:g.88412143G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 86213147,
          "referenceAllele": "G",
          "start": 86213146
        }
      ],
      "hgvs": [
        "NC_000015.8:g.86213147G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10857,
          "referenceAllele": "C",
          "start": 10856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008033",
      "geneNCBI_id": 4916,
      "geneSymbol": "NTRK3",
      "hgvs": [
        "ENST00000629765.3:c.*8023C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485864.1:n.*8023C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906328",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000629765.3:c.*8023C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001012338.3:c.*8023C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000485864.1:n.*8023C>T"
          },
          "RefSeq": {
            "hgvs": "NP_001012338.1:n.*8023C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10823,
          "referenceAllele": "C",
          "start": 10822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008033",
      "geneNCBI_id": 4916,
      "geneSymbol": "NTRK3",
      "hgvs": [
        "ENST00000394480.6:c.*8023C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377990.1:n.*8023C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276187"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11144,
          "referenceAllele": "C",
          "start": 11143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008033",
      "geneNCBI_id": 4916,
      "geneSymbol": "NTRK3",
      "hgvs": [
        "XM_006720543.4:c.*8023C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720606.1:n.*8023C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540116"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11120,
          "referenceAllele": "C",
          "start": 11119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008033",
      "geneNCBI_id": 4916,
      "geneSymbol": "NTRK3",
      "hgvs": [
        "XM_006720544.4:c.*8023C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720607.1:n.*8023C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540117"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10987,
          "referenceAllele": "C",
          "start": 10986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008033",
      "geneNCBI_id": 4916,
      "geneSymbol": "NTRK3",
      "hgvs": [
        "XM_017022240.1:c.*8023C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877729.1:n.*8023C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573241"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10472,
          "referenceAllele": "C",
          "start": 10471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008033",
      "geneNCBI_id": 4916,
      "geneSymbol": "NTRK3",
      "hgvs": [
        "XM_017022241.1:c.*8023C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877730.1:n.*8023C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573242"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10468,
          "referenceAllele": "C",
          "start": 10467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008033",
      "geneNCBI_id": 4916,
      "geneSymbol": "NTRK3",
      "hgvs": [
        "XM_017022243.1:c.*8023C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877732.1:n.*8023C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573244"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11010,
          "referenceAllele": "C",
          "start": 11009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008033",
      "geneNCBI_id": 4916,
      "geneSymbol": "NTRK3",
      "hgvs": [
        "XM_017022244.2:c.*8023C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877733.1:n.*8023C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573245"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11065,
          "referenceAllele": "C",
          "start": 11064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008033",
      "geneNCBI_id": 4916,
      "geneSymbol": "NTRK3",
      "hgvs": [
        "XM_017022245.2:c.*8023C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877734.1:n.*8023C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573246"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9494,
          "referenceAllele": "C",
          "start": 9493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008033",
      "geneNCBI_id": 4916,
      "geneSymbol": "NTRK3",
      "hgvs": [
        "XM_017022251.2:c.*8023C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877740.1:n.*8023C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573250"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9470,
          "referenceAllele": "C",
          "start": 9469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008033",
      "geneNCBI_id": 4916,
      "geneSymbol": "NTRK3",
      "hgvs": [
        "XM_017022252.2:c.*8023C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877741.1:n.*8023C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573251"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11186,
          "referenceAllele": "C",
          "start": 11185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008033",
      "geneNCBI_id": 4916,
      "geneSymbol": "NTRK3",
      "hgvs": [
        "XM_017022253.2:c.*8023C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877742.1:n.*8023C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573252"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11219,
          "referenceAllele": "C",
          "start": 11218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008033",
      "geneNCBI_id": 4916,
      "geneSymbol": "NTRK3",
      "hgvs": [
        "XM_017022254.2:c.*8023C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877743.1:n.*8023C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573253"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10986,
          "referenceAllele": "C",
          "start": 10985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008033",
      "geneNCBI_id": 4916,
      "geneSymbol": "NTRK3",
      "hgvs": [
        "XM_024449933.1:c.*8023C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305701.1:n.*8023C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583475"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11144,
          "referenceAllele": "C",
          "start": 11143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008033",
      "geneNCBI_id": 4916,
      "geneSymbol": "NTRK3",
      "hgvs": [
        "XR_001751292.2:n.11144C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598211"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10569,
          "referenceAllele": "C",
          "start": 10568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008033",
      "geneNCBI_id": 4916,
      "geneSymbol": "NTRK3",
      "hgvs": [
        "NM_001375810.1:c.*8023C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362739.1:n.*8023C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693892"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10527,
          "referenceAllele": "C",
          "start": 10526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008033",
      "geneNCBI_id": 4916,
      "geneSymbol": "NTRK3",
      "hgvs": [
        "NM_001375811.1:c.*8023C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362740.1:n.*8023C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693893"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10503,
          "referenceAllele": "C",
          "start": 10502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008033",
      "geneNCBI_id": 4916,
      "geneSymbol": "NTRK3",
      "hgvs": [
        "NM_001375812.1:c.*8023C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362741.1:n.*8023C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693894"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10815,
          "referenceAllele": "C",
          "start": 10814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008033",
      "geneNCBI_id": 4916,
      "geneSymbol": "NTRK3",
      "hgvs": [
        "NM_002530.4:c.*8023C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002521.2:n.*8023C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695566"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10857,
          "referenceAllele": "C",
          "start": 10856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008033",
      "geneNCBI_id": 4916,
      "geneSymbol": "NTRK3",
      "hgvs": [
        "NM_001012338.3:c.*8023C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001012338.1:n.*8023C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711313",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000629765.3:c.*8023C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001012338.3:c.*8023C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000485864.1:n.*8023C>T"
          },
          "RefSeq": {
            "hgvs": "NP_001012338.1:n.*8023C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10791,
          "referenceAllele": "C",
          "start": 10790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008033",
      "geneNCBI_id": 4916,
      "geneSymbol": "NTRK3",
      "hgvs": [
        "NM_001243101.2:c.*8023C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230030.1:n.*8023C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714437"
    }
  ],
  "type": "nucleotide"
}