{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA138407071",
  "communityStandardTitle": [
    "NM_001372081.1(SPATS1):c.875-253C>T"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.44344519C>T?assembly=hg19",
        "id": "chr6:g.44344519C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.44376782C>T?assembly=hg38",
        "id": "chr6:g.44376782C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/9296429",
        "rs": 9296429
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-44344519-C-T?dataset=gnomad_r2_1",
        "id": "6-44344519-C-T",
        "variant": "6:44344519 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-44376782-C-T?dataset=gnomad_r3",
        "id": "6-44376782-C-T",
        "variant": "6:44376782 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-44376782-C-T?dataset=gnomad_r4",
        "id": "6-44376782-C-T",
        "variant": "6:44376782 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 44376782,
          "referenceAllele": "C",
          "start": 44376781
        }
      ],
      "hgvs": [
        "NC_000006.12:g.44376782C>T",
        "CM000668.2:g.44376782C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 44344519,
          "referenceAllele": "C",
          "start": 44344518
        }
      ],
      "hgvs": [
        "NC_000006.11:g.44344519C>T",
        "CM000668.1:g.44344519C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 44452497,
          "referenceAllele": "C",
          "start": 44452496
        }
      ],
      "hgvs": [
        "NC_000006.10:g.44452497C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 993,
          "endIntronDirection": "-",
          "endIntronOffset": 252,
          "referenceAllele": "C",
          "start": 993,
          "startIntronDirection": "-",
          "startIntronOffset": 253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022957",
      "geneNCBI_id": 221409,
      "geneSymbol": "SPATS1",
      "hgvs": [
        "ENST00000674044.1:c.875-253C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501191.1:n.875-253C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774070",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674044.1:c.875-253C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001372081.1:c.875-253C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501191.1:n.875-253C>T"
          },
          "RefSeq": {
            "hgvs": "NP_001359010.1:n.875-253C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1221,
          "endIntronDirection": "-",
          "endIntronOffset": 252,
          "referenceAllele": "C",
          "start": 1221,
          "startIntronDirection": "-",
          "startIntronOffset": 253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022957",
      "geneNCBI_id": 221409,
      "geneSymbol": "SPATS1",
      "hgvs": [
        "ENST00000288390.2:c.875-253C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424400.1:n.875-253C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253513"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 975,
          "endIntronDirection": "-",
          "endIntronOffset": 252,
          "referenceAllele": "C",
          "start": 975,
          "startIntronDirection": "-",
          "startIntronOffset": 253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022957",
      "geneNCBI_id": 221409,
      "geneSymbol": "SPATS1",
      "hgvs": [
        "ENST00000323108.12:c.875-253C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437552.1:n.875-253C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258172"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1590,
          "endIntronDirection": "-",
          "endIntronOffset": 252,
          "referenceAllele": "C",
          "start": 1590,
          "startIntronDirection": "-",
          "startIntronOffset": 253
        }
      ],
      "hgvs": [
        "ENST00000505802.1:c.1591-253C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS337496"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1124,
          "endIntronDirection": "-",
          "endIntronOffset": 252,
          "referenceAllele": "C",
          "start": 1124,
          "startIntronDirection": "-",
          "startIntronOffset": 253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022957",
      "geneNCBI_id": 221409,
      "geneSymbol": "SPATS1",
      "hgvs": [
        "ENST00000506468.1:c.*753-253C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424823.1:n.*753-253C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS337999"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 975,
          "endIntronDirection": "-",
          "endIntronOffset": 252,
          "referenceAllele": "C",
          "start": 975,
          "startIntronDirection": "-",
          "startIntronOffset": 253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022957",
      "geneNCBI_id": 221409,
      "geneSymbol": "SPATS1",
      "hgvs": [
        "NM_145026.3:c.875-253C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_659463.1:n.875-253C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041315"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 993,
          "endIntronDirection": "-",
          "endIntronOffset": 252,
          "referenceAllele": "C",
          "start": 993,
          "startIntronDirection": "-",
          "startIntronOffset": 253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022957",
      "geneNCBI_id": 221409,
      "geneSymbol": "SPATS1",
      "hgvs": [
        "NM_001372081.1:c.875-253C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001359010.1:n.875-253C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693135",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674044.1:c.875-253C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001372081.1:c.875-253C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501191.1:n.875-253C>T"
          },
          "RefSeq": {
            "hgvs": "NP_001359010.1:n.875-253C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 985,
          "endIntronDirection": "-",
          "endIntronOffset": 252,
          "referenceAllele": "C",
          "start": 985,
          "startIntronDirection": "-",
          "startIntronOffset": 253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022957",
      "geneNCBI_id": 221409,
      "geneSymbol": "SPATS1",
      "hgvs": [
        "NM_145026.4:c.875-253C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_659463.1:n.875-253C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699969"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 966,
          "endIntronDirection": "-",
          "endIntronOffset": 65107,
          "referenceAllele": "C",
          "start": 966,
          "startIntronDirection": "-",
          "startIntronOffset": 65108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020194",
      "geneNCBI_id": 9533,
      "geneSymbol": "POLR1C",
      "hgvs": [
        "NM_001318876.2:c.946-65108C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305805.1:n.946-65108C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717620"
    }
  ],
  "type": "nucleotide"
}