{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2181537691",
  "communityStandardTitle": [
    "NM_134261.3(RORA):c.166+112549C>G"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/782931",
        "rs": 782931
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 61116504,
          "referenceAllele": "G",
          "start": 61116503
        }
      ],
      "hgvs": [
        "NC_000015.10:g.61116504G>C",
        "CM000677.2:g.61116504G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 61408703,
          "referenceAllele": "G",
          "start": 61408702
        }
      ],
      "hgvs": [
        "NC_000015.9:g.61408703G>C",
        "CM000677.1:g.61408703G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 59195995,
          "referenceAllele": "G",
          "start": 59195994
        }
      ],
      "hgvs": [
        "NC_000015.8:g.59195995G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 117800,
          "referenceAllele": "C",
          "start": 117799
        }
      ],
      "hgvs": [
        "NG_029246.1:g.117800C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004341"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 250,
          "endIntronDirection": "+",
          "endIntronOffset": 112549,
          "referenceAllele": "C",
          "start": 250,
          "startIntronDirection": "+",
          "startIntronOffset": 112548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010258",
      "geneNCBI_id": 6095,
      "geneSymbol": "RORA",
      "hgvs": [
        "ENST00000335670.11:c.166+112549C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000335087.6:n.166+112549C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747514",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000335670.11:c.166+112549C>G"
          },
          "RefSeq": {
            "hgvs": "NM_134261.3:c.166+112549C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000335087.6:n.166+112549C>G"
          },
          "RefSeq": {
            "hgvs": "NP_599023.1:n.166+112549C>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 267,
          "endIntronDirection": "+",
          "endIntronOffset": 112549,
          "referenceAllele": "C",
          "start": 267,
          "startIntronDirection": "+",
          "startIntronOffset": 112548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010258",
      "geneNCBI_id": 6095,
      "geneSymbol": "RORA",
      "hgvs": [
        "ENST00000335670.10:c.166+112549C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000335087.6:n.166+112549C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260170"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 81,
          "endIntronDirection": "+",
          "endIntronOffset": 112549,
          "referenceAllele": "C",
          "start": 81,
          "startIntronDirection": "+",
          "startIntronOffset": 112548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010258",
      "geneNCBI_id": 6095,
      "geneSymbol": "RORA",
      "hgvs": [
        "ENST00000551975.5:c.81+112549C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS368976"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 191,
          "endIntronDirection": "+",
          "endIntronOffset": 112549,
          "referenceAllele": "C",
          "start": 191,
          "startIntronDirection": "+",
          "startIntronOffset": 112548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010258",
      "geneNCBI_id": 6095,
      "geneSymbol": "RORA",
      "hgvs": [
        "ENST00000557822.5:n.191+112549C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS373335"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 173,
          "endIntronDirection": "+",
          "endIntronOffset": 112549,
          "referenceAllele": "C",
          "start": 173,
          "startIntronDirection": "+",
          "startIntronOffset": 112548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010258",
      "geneNCBI_id": 6095,
      "geneSymbol": "RORA",
      "hgvs": [
        "ENST00000559145.1:n.173+112549C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS374349"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 181,
          "endIntronDirection": "-",
          "endIntronOffset": 75369,
          "referenceAllele": "C",
          "start": 181,
          "startIntronDirection": "-",
          "startIntronOffset": 75370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010258",
      "geneNCBI_id": 6095,
      "geneSymbol": "RORA",
      "hgvs": [
        "ENST00000560300.1:n.182-75370C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS375244"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 179,
          "endIntronDirection": "+",
          "endIntronOffset": 112549,
          "referenceAllele": "C",
          "start": 179,
          "startIntronDirection": "+",
          "startIntronOffset": 112548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010258",
      "geneNCBI_id": 6095,
      "geneSymbol": "RORA",
      "hgvs": [
        "ENST00000561093.1:n.179+112549C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS375849"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 251,
          "endIntronDirection": "+",
          "endIntronOffset": 112549,
          "referenceAllele": "C",
          "start": 251,
          "startIntronDirection": "+",
          "startIntronOffset": 112548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010258",
      "geneNCBI_id": 6095,
      "geneSymbol": "RORA",
      "hgvs": [
        "NM_134261.2:c.166+112549C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_599023.1:n.166+112549C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040585"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 81,
          "endIntronDirection": "+",
          "endIntronOffset": 112549,
          "referenceAllele": "C",
          "start": 81,
          "startIntronDirection": "+",
          "startIntronOffset": 112548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010258",
      "geneNCBI_id": 6095,
      "geneSymbol": "RORA",
      "hgvs": [
        "XM_011521878.1:c.-328+112549C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520180.1:n.-328+112549C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089037"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 81,
          "endIntronDirection": "+",
          "endIntronOffset": 112549,
          "referenceAllele": "C",
          "start": 81,
          "startIntronDirection": "+",
          "startIntronOffset": 112548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010258",
      "geneNCBI_id": 6095,
      "geneSymbol": "RORA",
      "hgvs": [
        "XM_011521878.2:c.-328+112549C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520180.1:n.-328+112549C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546359"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2765,
          "referenceAllele": "C",
          "start": 2764
        }
      ],
      "hgvs": [
        "XR_002957760.1:n.2765C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603889"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 250,
          "endIntronDirection": "+",
          "endIntronOffset": 112549,
          "referenceAllele": "C",
          "start": 250,
          "startIntronDirection": "+",
          "startIntronOffset": 112548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010258",
      "geneNCBI_id": 6095,
      "geneSymbol": "RORA",
      "hgvs": [
        "NM_134261.3:c.166+112549C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_599023.1:n.166+112549C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671851",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000335670.11:c.166+112549C>G"
          },
          "RefSeq": {
            "hgvs": "NM_134261.3:c.166+112549C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000335087.6:n.166+112549C>G"
          },
          "RefSeq": {
            "hgvs": "NP_599023.1:n.166+112549C>G"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}