{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1777409302",
  "communityStandardTitle": [
    "NM_000349.3(STAR):c.772C= (p.Gln258=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894085",
        "rs": 104894085
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 38144359,
          "referenceAllele": "G",
          "start": 38144358
        }
      ],
      "hgvs": [
        "NC_000008.11:g.38144359G=",
        "CM000670.2:g.38144359G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 38001877,
          "referenceAllele": "G",
          "start": 38001876
        }
      ],
      "hgvs": [
        "NC_000008.10:g.38001877G=",
        "CM000670.1:g.38001877G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 38121034,
          "referenceAllele": "G",
          "start": 38121033
        }
      ],
      "hgvs": [
        "NC_000008.9:g.38121034G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 11724,
          "referenceAllele": "C",
          "start": 11723
        }
      ],
      "hgvs": [
        "NG_011827.1:g.11724C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002007"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 906,
          "referenceAllele": "C",
          "start": 905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011359",
      "geneNCBI_id": 6770,
      "geneSymbol": "STAR",
      "hgvs": [
        "ENST00000276449.9:c.772C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000276449.3:p.Gln258="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743427",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000276449.9:c.772C="
          },
          "RefSeq": {
            "hgvs": "NM_000349.3:c.772C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000276449.3:p.Gln258="
          },
          "RefSeq": {
            "hgvs": "NP_000340.2:p.Gln258="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1219,
          "referenceAllele": "C",
          "start": 1218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011359",
      "geneNCBI_id": 6770,
      "geneSymbol": "STAR",
      "hgvs": [
        "ENST00000276449.8:c.772C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000276449.3:p.Gln258="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252687"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2741,
          "referenceAllele": "C",
          "start": 2740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011359",
      "geneNCBI_id": 6770,
      "geneSymbol": "STAR",
      "hgvs": [
        "ENST00000520114.1:n.2741C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS347219"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 614,
          "referenceAllele": "C",
          "start": 613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011359",
      "geneNCBI_id": 6770,
      "geneSymbol": "STAR",
      "hgvs": [
        "ENST00000522050.1:c.614C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS348742"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3074697264",
      "coordinates": [
        {
          "allele": "C",
          "end": 1036,
          "referenceAllele": "C",
          "start": 1035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011359",
      "geneNCBI_id": 6770,
      "geneSymbol": "STAR",
      "hgvs": [
        "NM_000349.2:c.772C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000340.2:p.Gln258="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006412"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1125,
          "referenceAllele": "C",
          "start": 1124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011359",
      "geneNCBI_id": 6770,
      "geneSymbol": "STAR",
      "hgvs": [
        "XM_006716392.1:c.678C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006716455.1:p.Thr226="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071652"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3074697264",
      "coordinates": [
        {
          "allele": "C",
          "end": 906,
          "referenceAllele": "C",
          "start": 905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011359",
      "geneNCBI_id": 6770,
      "geneSymbol": "STAR",
      "hgvs": [
        "NM_000349.3:c.772C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000340.2:p.Gln258="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674801",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000276449.9:c.772C="
          },
          "RefSeq": {
            "hgvs": "NM_000349.3:c.772C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000276449.3:p.Gln258="
          },
          "RefSeq": {
            "hgvs": "NP_000340.2:p.Gln258="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}