{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1217927074",
  "communityStandardTitle": [
    "NM_018136.5(ASPM):c.9084+5G="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1060499758",
        "rs": 1060499758
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 197094079,
          "referenceAllele": "C",
          "start": 197094078
        }
      ],
      "hgvs": [
        "NC_000001.11:g.197094079C=",
        "CM000663.2:g.197094079C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 197063209,
          "referenceAllele": "C",
          "start": 197063208
        }
      ],
      "hgvs": [
        "NC_000001.10:g.197063209C=",
        "CM000663.1:g.197063209C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 195329832,
          "referenceAllele": "C",
          "start": 195329831
        }
      ],
      "hgvs": [
        "NC_000001.9:g.195329832C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 57616,
          "referenceAllele": "G",
          "start": 57615
        }
      ],
      "hgvs": [
        "NG_015867.1:g.57616G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002891"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2371,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 2371,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019048",
      "geneNCBI_id": 259266,
      "geneSymbol": "ASPM",
      "hgvs": [
        "ENST00000367408.6:n.2371+5G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS750002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9316,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 9316,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019048",
      "geneNCBI_id": 259266,
      "geneSymbol": "ASPM",
      "hgvs": [
        "ENST00000367409.9:c.9084+5G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356379.4:n.9084+5G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750003",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367409.9:c.9084+5G="
          },
          "RefSeq": {
            "hgvs": "NM_018136.5:c.9084+5G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356379.4:n.9084+5G="
          },
          "RefSeq": {
            "hgvs": "NP_060606.3:n.9084+5G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9538,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 9538,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019048",
      "geneNCBI_id": 259266,
      "geneSymbol": "ASPM",
      "hgvs": [
        "ENST00000680265.1:c.9306+5G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505384.1:n.9306+5G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779885"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9084,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 9084,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019048",
      "geneNCBI_id": 259266,
      "geneSymbol": "ASPM",
      "hgvs": [
        "ENST00000680710.1:c.9084+5G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506676.1:n.9084+5G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780325"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4586,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 4586,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019048",
      "geneNCBI_id": 259266,
      "geneSymbol": "ASPM",
      "hgvs": [
        "ENST00000294732.11:c.4329+5G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000294732.7:n.4329+5G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253997"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2205,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 2205,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019048",
      "geneNCBI_id": 259266,
      "geneSymbol": "ASPM",
      "hgvs": [
        "ENST00000367408.5:c.2079+5G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356378.1:n.2079+5G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266370"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9341,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 9341,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019048",
      "geneNCBI_id": 259266,
      "geneSymbol": "ASPM",
      "hgvs": [
        "ENST00000367409.8:c.9084+5G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356379.4:n.9084+5G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266371"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3299,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 3299,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019048",
      "geneNCBI_id": 259266,
      "geneSymbol": "ASPM",
      "hgvs": [
        "ENST00000612785.1:c.3042+5G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479244.1:n.3042+5G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401457"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4586,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 4586,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019048",
      "geneNCBI_id": 259266,
      "geneSymbol": "ASPM",
      "hgvs": [
        "NM_001206846.1:c.4329+5G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001193775.1:n.4329+5G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017869"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9341,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 9341,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019048",
      "geneNCBI_id": 259266,
      "geneSymbol": "ASPM",
      "hgvs": [
        "NM_018136.4:c.9084+5G="
      ],
      "proteinEffect": {
        "hgvs": "NP_060606.3:n.9084+5G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035482"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9316,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 9316,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019048",
      "geneNCBI_id": 259266,
      "geneSymbol": "ASPM",
      "hgvs": [
        "NM_018136.5:c.9084+5G="
      ],
      "proteinEffect": {
        "hgvs": "NP_060606.3:n.9084+5G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669526",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367409.9:c.9084+5G="
          },
          "RefSeq": {
            "hgvs": "NM_018136.5:c.9084+5G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356379.4:n.9084+5G="
          },
          "RefSeq": {
            "hgvs": "NP_060606.3:n.9084+5G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4561,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 4561,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019048",
      "geneNCBI_id": 259266,
      "geneSymbol": "ASPM",
      "hgvs": [
        "NM_001206846.2:c.4329+5G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001193775.1:n.4329+5G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714237"
    }
  ],
  "type": "nucleotide"
}