{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1928704243",
  "communityStandardTitle": [
    "NM_006204.4(PDE6C):c.724-1G="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057518244",
        "rs": 1057518244
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 93621931,
          "referenceAllele": "G",
          "start": 93621930
        }
      ],
      "hgvs": [
        "NC_000010.11:g.93621931G=",
        "CM000672.2:g.93621931G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 95381688,
          "referenceAllele": "G",
          "start": 95381687
        }
      ],
      "hgvs": [
        "NC_000010.10:g.95381688G=",
        "CM000672.1:g.95381688G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 95371678,
          "referenceAllele": "G",
          "start": 95371677
        }
      ],
      "hgvs": [
        "NC_000010.9:g.95371678G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14344,
          "referenceAllele": "G",
          "start": 14343
        }
      ],
      "hgvs": [
        "NG_016752.1:g.14344G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003277"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 912,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 912,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008787",
      "geneNCBI_id": 5146,
      "geneSymbol": "PDE6C",
      "hgvs": [
        "ENST00000371447.4:c.724-1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360502.3:n.724-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750793",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371447.4:c.724-1G="
          },
          "RefSeq": {
            "hgvs": "NM_006204.4:c.724-1G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360502.3:n.724-1G="
          },
          "RefSeq": {
            "hgvs": "NP_006195.3:n.724-1G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 861,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 861,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008787",
      "geneNCBI_id": 5146,
      "geneSymbol": "PDE6C",
      "hgvs": [
        "ENST00000371447.3:c.724-1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360502.3:n.724-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268585"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 861,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 861,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008787",
      "geneNCBI_id": 5146,
      "geneSymbol": "PDE6C",
      "hgvs": [
        "NM_006204.3:c.724-1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_006195.3:n.724-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031229"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 912,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 912,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008787",
      "geneNCBI_id": 5146,
      "geneSymbol": "PDE6C",
      "hgvs": [
        "NM_006204.4:c.724-1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_006195.3:n.724-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696642",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371447.4:c.724-1G="
          },
          "RefSeq": {
            "hgvs": "NM_006204.4:c.724-1G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360502.3:n.724-1G="
          },
          "RefSeq": {
            "hgvs": "NP_006195.3:n.724-1G="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}