{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1143355830",
  "communityStandardTitle": [
    "NM_018136.5(ASPM):c.2938C= (p.Arg980=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/199422151",
        "rs": 199422151
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 197125190,
          "referenceAllele": "G",
          "start": 197125189
        }
      ],
      "hgvs": [
        "NC_000001.11:g.197125190G=",
        "CM000663.2:g.197125190G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 197094320,
          "referenceAllele": "G",
          "start": 197094319
        }
      ],
      "hgvs": [
        "NC_000001.10:g.197094320G=",
        "CM000663.1:g.197094320G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 195360943,
          "referenceAllele": "G",
          "start": 195360942
        }
      ],
      "hgvs": [
        "NC_000001.9:g.195360943G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 26505,
          "referenceAllele": "C",
          "start": 26504
        }
      ],
      "hgvs": [
        "NG_015867.1:g.26505C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002891"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 890,
          "referenceAllele": "C",
          "start": 889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019048",
      "geneNCBI_id": 259266,
      "geneSymbol": "ASPM",
      "hgvs": [
        "ENST00000367408.6:n.890C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS750002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3170,
          "referenceAllele": "C",
          "start": 3169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019048",
      "geneNCBI_id": 259266,
      "geneSymbol": "ASPM",
      "hgvs": [
        "ENST00000367409.9:c.2938C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356379.4:p.Arg980="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750003",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367409.9:c.2938C="
          },
          "RefSeq": {
            "hgvs": "NM_018136.5:c.2938C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356379.4:p.Arg980="
          },
          "RefSeq": {
            "hgvs": "NP_060606.3:p.Arg980="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 994,
          "referenceAllele": "C",
          "start": 993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019048",
      "geneNCBI_id": 259266,
      "geneSymbol": "ASPM",
      "hgvs": [
        "ENST00000680112.1:n.994C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779733"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3170,
          "referenceAllele": "C",
          "start": 3169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019048",
      "geneNCBI_id": 259266,
      "geneSymbol": "ASPM",
      "hgvs": [
        "ENST00000680265.1:c.2938C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505384.1:p.Arg980="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779885"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2938,
          "referenceAllele": "C",
          "start": 2937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019048",
      "geneNCBI_id": 259266,
      "geneSymbol": "ASPM",
      "hgvs": [
        "ENST00000680710.1:c.2938C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506676.1:p.Arg980="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780325"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2938,
          "referenceAllele": "C",
          "start": 2937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019048",
      "geneNCBI_id": 259266,
      "geneSymbol": "ASPM",
      "hgvs": [
        "ENST00000681879.1:c.2938C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505363.1:p.Arg980="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781480"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3195,
          "referenceAllele": "C",
          "start": 3194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019048",
      "geneNCBI_id": 259266,
      "geneSymbol": "ASPM",
      "hgvs": [
        "ENST00000294732.11:c.2938C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000294732.7:p.Arg980="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253997"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 814,
          "referenceAllele": "C",
          "start": 813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019048",
      "geneNCBI_id": 259266,
      "geneSymbol": "ASPM",
      "hgvs": [
        "ENST00000367408.5:c.688C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356378.1:p.Arg230="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266370"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3195,
          "referenceAllele": "C",
          "start": 3194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019048",
      "geneNCBI_id": 259266,
      "geneSymbol": "ASPM",
      "hgvs": [
        "ENST00000367409.8:c.2938C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356379.4:p.Arg980="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266371"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 818,
          "endIntronDirection": "+",
          "endIntronOffset": 18501,
          "referenceAllele": "C",
          "start": 818,
          "startIntronDirection": "+",
          "startIntronOffset": 18500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019048",
      "geneNCBI_id": 259266,
      "geneSymbol": "ASPM",
      "hgvs": [
        "ENST00000612785.1:c.561+18501C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479244.1:n.561+18501C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401457"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3195,
          "referenceAllele": "C",
          "start": 3194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019048",
      "geneNCBI_id": 259266,
      "geneSymbol": "ASPM",
      "hgvs": [
        "NM_001206846.1:c.2938C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001193775.1:p.Arg980="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017869"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3064003362",
      "coordinates": [
        {
          "allele": "C",
          "end": 3195,
          "referenceAllele": "C",
          "start": 3194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019048",
      "geneNCBI_id": 259266,
      "geneSymbol": "ASPM",
      "hgvs": [
        "NM_018136.4:c.2938C="
      ],
      "proteinEffect": {
        "hgvs": "NP_060606.3:p.Arg980="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035482"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3064003362",
      "coordinates": [
        {
          "allele": "C",
          "end": 3170,
          "referenceAllele": "C",
          "start": 3169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019048",
      "geneNCBI_id": 259266,
      "geneSymbol": "ASPM",
      "hgvs": [
        "NM_018136.5:c.2938C="
      ],
      "proteinEffect": {
        "hgvs": "NP_060606.3:p.Arg980="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669526",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367409.9:c.2938C="
          },
          "RefSeq": {
            "hgvs": "NM_018136.5:c.2938C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356379.4:p.Arg980="
          },
          "RefSeq": {
            "hgvs": "NP_060606.3:p.Arg980="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3170,
          "referenceAllele": "C",
          "start": 3169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019048",
      "geneNCBI_id": 259266,
      "geneSymbol": "ASPM",
      "hgvs": [
        "NM_001206846.2:c.2938C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001193775.1:p.Arg980="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714237"
    }
  ],
  "type": "nucleotide"
}