{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1143355829",
  "communityStandardTitle": [
    "NM_018136.5(ASPM):c.2967G= (p.Trp989=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/199422152",
        "rs": 199422152
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 197125161,
          "referenceAllele": "C",
          "start": 197125160
        }
      ],
      "hgvs": [
        "NC_000001.11:g.197125161C=",
        "CM000663.2:g.197125161C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 197094291,
          "referenceAllele": "C",
          "start": 197094290
        }
      ],
      "hgvs": [
        "NC_000001.10:g.197094291C=",
        "CM000663.1:g.197094291C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 195360914,
          "referenceAllele": "C",
          "start": 195360913
        }
      ],
      "hgvs": [
        "NC_000001.9:g.195360914C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 26534,
          "referenceAllele": "G",
          "start": 26533
        }
      ],
      "hgvs": [
        "NG_015867.1:g.26534G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002891"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 919,
          "referenceAllele": "G",
          "start": 918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019048",
      "geneNCBI_id": 259266,
      "geneSymbol": "ASPM",
      "hgvs": [
        "ENST00000367408.6:n.919G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS750002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3199,
          "referenceAllele": "G",
          "start": 3198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019048",
      "geneNCBI_id": 259266,
      "geneSymbol": "ASPM",
      "hgvs": [
        "ENST00000367409.9:c.2967G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356379.4:p.Trp989="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750003",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367409.9:c.2967G="
          },
          "RefSeq": {
            "hgvs": "NM_018136.5:c.2967G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356379.4:p.Trp989="
          },
          "RefSeq": {
            "hgvs": "NP_060606.3:p.Trp989="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1023,
          "referenceAllele": "G",
          "start": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019048",
      "geneNCBI_id": 259266,
      "geneSymbol": "ASPM",
      "hgvs": [
        "ENST00000680112.1:n.1023G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779733"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3199,
          "referenceAllele": "G",
          "start": 3198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019048",
      "geneNCBI_id": 259266,
      "geneSymbol": "ASPM",
      "hgvs": [
        "ENST00000680265.1:c.2967G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505384.1:p.Trp989="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779885"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2967,
          "referenceAllele": "G",
          "start": 2966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019048",
      "geneNCBI_id": 259266,
      "geneSymbol": "ASPM",
      "hgvs": [
        "ENST00000680710.1:c.2967G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506676.1:p.Trp989="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780325"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2967,
          "referenceAllele": "G",
          "start": 2966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019048",
      "geneNCBI_id": 259266,
      "geneSymbol": "ASPM",
      "hgvs": [
        "ENST00000681879.1:c.2967G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505363.1:p.Trp989="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781480"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3224,
          "referenceAllele": "G",
          "start": 3223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019048",
      "geneNCBI_id": 259266,
      "geneSymbol": "ASPM",
      "hgvs": [
        "ENST00000294732.11:c.2967G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000294732.7:p.Trp989="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253997"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 843,
          "referenceAllele": "G",
          "start": 842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019048",
      "geneNCBI_id": 259266,
      "geneSymbol": "ASPM",
      "hgvs": [
        "ENST00000367408.5:c.717G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356378.1:p.Trp239="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266370"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3224,
          "referenceAllele": "G",
          "start": 3223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019048",
      "geneNCBI_id": 259266,
      "geneSymbol": "ASPM",
      "hgvs": [
        "ENST00000367409.8:c.2967G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356379.4:p.Trp989="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266371"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 818,
          "endIntronDirection": "+",
          "endIntronOffset": 18530,
          "referenceAllele": "G",
          "start": 818,
          "startIntronDirection": "+",
          "startIntronOffset": 18529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019048",
      "geneNCBI_id": 259266,
      "geneSymbol": "ASPM",
      "hgvs": [
        "ENST00000612785.1:c.561+18530G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479244.1:n.561+18530G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401457"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3224,
          "referenceAllele": "G",
          "start": 3223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019048",
      "geneNCBI_id": 259266,
      "geneSymbol": "ASPM",
      "hgvs": [
        "NM_001206846.1:c.2967G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001193775.1:p.Trp989="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017869"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063940170",
      "coordinates": [
        {
          "allele": "G",
          "end": 3224,
          "referenceAllele": "G",
          "start": 3223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019048",
      "geneNCBI_id": 259266,
      "geneSymbol": "ASPM",
      "hgvs": [
        "NM_018136.4:c.2967G="
      ],
      "proteinEffect": {
        "hgvs": "NP_060606.3:p.Trp989="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035482"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063940170",
      "coordinates": [
        {
          "allele": "G",
          "end": 3199,
          "referenceAllele": "G",
          "start": 3198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019048",
      "geneNCBI_id": 259266,
      "geneSymbol": "ASPM",
      "hgvs": [
        "NM_018136.5:c.2967G="
      ],
      "proteinEffect": {
        "hgvs": "NP_060606.3:p.Trp989="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669526",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367409.9:c.2967G="
          },
          "RefSeq": {
            "hgvs": "NM_018136.5:c.2967G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356379.4:p.Trp989="
          },
          "RefSeq": {
            "hgvs": "NP_060606.3:p.Trp989="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3199,
          "referenceAllele": "G",
          "start": 3198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019048",
      "geneNCBI_id": 259266,
      "geneSymbol": "ASPM",
      "hgvs": [
        "NM_001206846.2:c.2967G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001193775.1:p.Trp989="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714237"
    }
  ],
  "type": "nucleotide"
}