{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10915154",
  "communityStandardTitle": [
    "NM_005999.3(TSNAX):c.368-3186G>T"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.231693688G>T?assembly=hg19",
        "id": "chr1:g.231693688G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.231557942G>T?assembly=hg38",
        "id": "chr1:g.231557942G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/766288",
        "rs": 766288
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-231693688-G-T?dataset=gnomad_r2_1",
        "id": "1-231693688-G-T",
        "variant": "1:231693688 G / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-231557942-G-T?dataset=gnomad_r3",
        "id": "1-231557942-G-T",
        "variant": "1:231557942 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-231557942-G-T?dataset=gnomad_r4",
        "id": "1-231557942-G-T",
        "variant": "1:231557942 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 231557942,
          "referenceAllele": "G",
          "start": 231557941
        }
      ],
      "hgvs": [
        "NC_000001.11:g.231557942G>T",
        "CM000663.2:g.231557942G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 231693688,
          "referenceAllele": "G",
          "start": 231693687
        }
      ],
      "hgvs": [
        "NC_000001.10:g.231693688G>T",
        "CM000663.1:g.231693688G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 229760311,
          "referenceAllele": "G",
          "start": 229760310
        }
      ],
      "hgvs": [
        "NC_000001.9:g.229760311G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 509,
          "endIntronDirection": "-",
          "endIntronOffset": 3185,
          "referenceAllele": "G",
          "start": 509,
          "startIntronDirection": "-",
          "startIntronOffset": 3186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012380",
      "geneNCBI_id": 7257,
      "geneSymbol": "TSNAX",
      "hgvs": [
        "ENST00000366639.9:c.368-3186G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355599.3:n.368-3186G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749827",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366639.9:c.368-3186G>T"
          },
          "RefSeq": {
            "hgvs": "NM_005999.3:c.368-3186G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355599.3:n.368-3186G>T"
          },
          "RefSeq": {
            "hgvs": "NP_005990.1:n.368-3186G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 658,
          "endIntronDirection": "-",
          "endIntronOffset": 3185,
          "referenceAllele": "G",
          "start": 658,
          "startIntronDirection": "-",
          "startIntronOffset": 3186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012380",
      "geneNCBI_id": 7257,
      "geneSymbol": "TSNAX",
      "hgvs": [
        "ENST00000413309.3:c.389-3186G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397537.1:n.389-3186G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754529"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 525,
          "endIntronDirection": "+",
          "endIntronOffset": 15331,
          "referenceAllele": "G",
          "start": 525,
          "startIntronDirection": "+",
          "startIntronOffset": 15330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN049177",
      "geneNCBI_id": 100303453,
      "geneSymbol": "TSNAX-DISC1",
      "hgvs": [
        "ENST00000644515.1:c.367+15331G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496433.1:n.367+15331G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767855"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 525,
          "endIntronDirection": "+",
          "endIntronOffset": 15331,
          "referenceAllele": "G",
          "start": 525,
          "startIntronDirection": "+",
          "startIntronOffset": 15330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN049177",
      "geneNCBI_id": 100303453,
      "geneSymbol": "TSNAX-DISC1",
      "hgvs": [
        "ENST00000646525.1:c.367+15331G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494923.1:n.367+15331G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768923"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 525,
          "endIntronDirection": "+",
          "endIntronOffset": 15331,
          "referenceAllele": "G",
          "start": 525,
          "startIntronDirection": "+",
          "startIntronOffset": 15330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN049177",
      "geneNCBI_id": 100303453,
      "geneSymbol": "TSNAX-DISC1",
      "hgvs": [
        "ENST00000647072.1:c.367+15331G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493799.1:n.367+15331G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769218"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 525,
          "endIntronDirection": "-",
          "endIntronOffset": 3185,
          "referenceAllele": "G",
          "start": 525,
          "startIntronDirection": "-",
          "startIntronOffset": 3186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012380",
      "geneNCBI_id": 7257,
      "geneSymbol": "TSNAX",
      "hgvs": [
        "ENST00000366639.8:c.368-3186G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355599.3:n.368-3186G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265940"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 544,
          "endIntronDirection": "-",
          "endIntronOffset": 3185,
          "referenceAllele": "G",
          "start": 544,
          "startIntronDirection": "-",
          "startIntronOffset": 3186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012380",
      "geneNCBI_id": 7257,
      "geneSymbol": "TSNAX",
      "hgvs": [
        "ENST00000413309.2:c.389-3186G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397537.1:n.389-3186G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3339,
          "endIntronDirection": "-",
          "endIntronOffset": 3185,
          "referenceAllele": "G",
          "start": 3339,
          "startIntronDirection": "-",
          "startIntronOffset": 3186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012380",
      "geneNCBI_id": 7257,
      "geneSymbol": "TSNAX",
      "hgvs": [
        "ENST00000475168.1:n.3340-3186G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316510"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 525,
          "endIntronDirection": "-",
          "endIntronOffset": 3185,
          "referenceAllele": "G",
          "start": 525,
          "startIntronDirection": "-",
          "startIntronOffset": 3186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN049177",
      "geneNCBI_id": 100303453,
      "geneSymbol": "TSNAX-DISC1",
      "hgvs": [
        "ENST00000602567.1:c.368-3186G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473456.1:n.368-3186G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS398247"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 525,
          "endIntronDirection": "+",
          "endIntronOffset": 15331,
          "referenceAllele": "G",
          "start": 525,
          "startIntronDirection": "+",
          "startIntronOffset": 15330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN049177",
      "geneNCBI_id": 100303453,
      "geneSymbol": "TSNAX-DISC1",
      "hgvs": [
        "ENST00000602634.5:c.367+15331G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473307.1:n.367+15331G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS398275"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 279,
          "endIntronDirection": "-",
          "endIntronOffset": 3185,
          "referenceAllele": "G",
          "start": 279,
          "startIntronDirection": "-",
          "startIntronOffset": 3186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN049177",
      "geneNCBI_id": 100303453,
      "geneSymbol": "TSNAX-DISC1",
      "hgvs": [
        "ENST00000602885.5:c.122-3186G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473476.1:n.122-3186G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS398389"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 525,
          "endIntronDirection": "-",
          "endIntronOffset": 3185,
          "referenceAllele": "G",
          "start": 525,
          "startIntronDirection": "-",
          "startIntronOffset": 3186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN049177",
      "geneNCBI_id": 100303453,
      "geneSymbol": "TSNAX-DISC1",
      "hgvs": [
        "ENST00000602956.5:c.368-3186G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473532.1:n.368-3186G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS398414"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 525,
          "endIntronDirection": "-",
          "endIntronOffset": 3185,
          "referenceAllele": "G",
          "start": 525,
          "startIntronDirection": "-",
          "startIntronOffset": 3186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN049177",
      "geneNCBI_id": 100303453,
      "geneSymbol": "TSNAX-DISC1",
      "hgvs": [
        "ENST00000602962.5:c.368-3186G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473367.1:n.368-3186G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS398419"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 525,
          "endIntronDirection": "-",
          "endIntronOffset": 3185,
          "referenceAllele": "G",
          "start": 525,
          "startIntronDirection": "-",
          "startIntronOffset": 3186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012380",
      "geneNCBI_id": 7257,
      "geneSymbol": "TSNAX",
      "hgvs": [
        "NM_005999.2:c.368-3186G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005990.1:n.368-3186G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031045"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 525,
          "endIntronDirection": "+",
          "endIntronOffset": 15331,
          "referenceAllele": "G",
          "start": 525,
          "startIntronDirection": "+",
          "startIntronOffset": 15330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN049177",
      "geneNCBI_id": 100303453,
      "geneSymbol": "TSNAX-DISC1",
      "hgvs": [
        "NR_028393.1:n.525+15331G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS048038"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 525,
          "endIntronDirection": "-",
          "endIntronOffset": 3185,
          "referenceAllele": "G",
          "start": 525,
          "startIntronDirection": "-",
          "startIntronOffset": 3186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN049177",
      "geneNCBI_id": 100303453,
      "geneSymbol": "TSNAX-DISC1",
      "hgvs": [
        "NR_028394.1:n.526-3186G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS048039"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 525,
          "endIntronDirection": "-",
          "endIntronOffset": 3185,
          "referenceAllele": "G",
          "start": 525,
          "startIntronDirection": "-",
          "startIntronOffset": 3186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN049177",
      "geneNCBI_id": 100303453,
      "geneSymbol": "TSNAX-DISC1",
      "hgvs": [
        "NR_028395.1:n.526-3186G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS048040"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 525,
          "endIntronDirection": "+",
          "endIntronOffset": 15331,
          "referenceAllele": "G",
          "start": 525,
          "startIntronDirection": "+",
          "startIntronOffset": 15330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN049177",
      "geneNCBI_id": 100303453,
      "geneSymbol": "TSNAX-DISC1",
      "hgvs": [
        "NR_028396.1:n.525+15331G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS048041"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 525,
          "endIntronDirection": "-",
          "endIntronOffset": 3185,
          "referenceAllele": "G",
          "start": 525,
          "startIntronDirection": "-",
          "startIntronOffset": 3186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN049177",
      "geneNCBI_id": 100303453,
      "geneSymbol": "TSNAX-DISC1",
      "hgvs": [
        "NR_028397.1:n.526-3186G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS048042"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 279,
          "endIntronDirection": "-",
          "endIntronOffset": 3185,
          "referenceAllele": "G",
          "start": 279,
          "startIntronDirection": "-",
          "startIntronOffset": 3186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN049177",
      "geneNCBI_id": 100303453,
      "geneSymbol": "TSNAX-DISC1",
      "hgvs": [
        "NR_028398.1:n.280-3186G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS048043"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 525,
          "endIntronDirection": "-",
          "endIntronOffset": 3185,
          "referenceAllele": "G",
          "start": 525,
          "startIntronDirection": "-",
          "startIntronOffset": 3186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN049177",
      "geneNCBI_id": 100303453,
      "geneSymbol": "TSNAX-DISC1",
      "hgvs": [
        "NR_028399.1:n.526-3186G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS048044"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 525,
          "endIntronDirection": "+",
          "endIntronOffset": 15331,
          "referenceAllele": "G",
          "start": 525,
          "startIntronDirection": "+",
          "startIntronOffset": 15330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN049177",
      "geneNCBI_id": 100303453,
      "geneSymbol": "TSNAX-DISC1",
      "hgvs": [
        "NR_028400.1:n.525+15331G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS048045"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 509,
          "endIntronDirection": "-",
          "endIntronOffset": 3185,
          "referenceAllele": "G",
          "start": 509,
          "startIntronDirection": "-",
          "startIntronOffset": 3186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012380",
      "geneNCBI_id": 7257,
      "geneSymbol": "TSNAX",
      "hgvs": [
        "NM_005999.3:c.368-3186G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005990.1:n.368-3186G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667245",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366639.9:c.368-3186G>T"
          },
          "RefSeq": {
            "hgvs": "NM_005999.3:c.368-3186G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355599.3:n.368-3186G>T"
          },
          "RefSeq": {
            "hgvs": "NP_005990.1:n.368-3186G>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}