{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1777409325",
  "communityStandardTitle": [
    "NM_000349.3(STAR):c.749G= (p.Trp250=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894087",
        "rs": 104894087
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 38144382,
          "referenceAllele": "C",
          "start": 38144381
        }
      ],
      "hgvs": [
        "NC_000008.11:g.38144382C=",
        "CM000670.2:g.38144382C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 38001900,
          "referenceAllele": "C",
          "start": 38001899
        }
      ],
      "hgvs": [
        "NC_000008.10:g.38001900C=",
        "CM000670.1:g.38001900C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 38121057,
          "referenceAllele": "C",
          "start": 38121056
        }
      ],
      "hgvs": [
        "NC_000008.9:g.38121057C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11701,
          "referenceAllele": "G",
          "start": 11700
        }
      ],
      "hgvs": [
        "NG_011827.1:g.11701G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002007"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 883,
          "referenceAllele": "G",
          "start": 882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011359",
      "geneNCBI_id": 6770,
      "geneSymbol": "STAR",
      "hgvs": [
        "ENST00000276449.9:c.749G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000276449.3:p.Trp250="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743427",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000276449.9:c.749G="
          },
          "RefSeq": {
            "hgvs": "NM_000349.3:c.749G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000276449.3:p.Trp250="
          },
          "RefSeq": {
            "hgvs": "NP_000340.2:p.Trp250="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1196,
          "referenceAllele": "G",
          "start": 1195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011359",
      "geneNCBI_id": 6770,
      "geneSymbol": "STAR",
      "hgvs": [
        "ENST00000276449.8:c.749G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000276449.3:p.Trp250="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252687"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2718,
          "referenceAllele": "G",
          "start": 2717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011359",
      "geneNCBI_id": 6770,
      "geneSymbol": "STAR",
      "hgvs": [
        "ENST00000520114.1:n.2718G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS347219"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 591,
          "referenceAllele": "G",
          "start": 590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011359",
      "geneNCBI_id": 6770,
      "geneSymbol": "STAR",
      "hgvs": [
        "ENST00000522050.1:c.591G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS348742"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3074697262",
      "coordinates": [
        {
          "allele": "G",
          "end": 1013,
          "referenceAllele": "G",
          "start": 1012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011359",
      "geneNCBI_id": 6770,
      "geneSymbol": "STAR",
      "hgvs": [
        "NM_000349.2:c.749G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000340.2:p.Trp250="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006412"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1102,
          "referenceAllele": "G",
          "start": 1101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011359",
      "geneNCBI_id": 6770,
      "geneSymbol": "STAR",
      "hgvs": [
        "XM_006716392.1:c.655G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006716455.1:p.Gly219="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071652"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3074697262",
      "coordinates": [
        {
          "allele": "G",
          "end": 883,
          "referenceAllele": "G",
          "start": 882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011359",
      "geneNCBI_id": 6770,
      "geneSymbol": "STAR",
      "hgvs": [
        "NM_000349.3:c.749G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000340.2:p.Trp250="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674801",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000276449.9:c.749G="
          },
          "RefSeq": {
            "hgvs": "NM_000349.3:c.749G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000276449.3:p.Trp250="
          },
          "RefSeq": {
            "hgvs": "NP_000340.2:p.Trp250="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}