{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2202260004",
  "communityStandardTitle": [
    "NM_001199107.2(TBC1D24):c.679C= (p.Arg227=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/748302886",
        "rs": 748302886
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 2496827,
          "referenceAllele": "C",
          "start": 2496826
        }
      ],
      "hgvs": [
        "NC_000016.10:g.2496827C=",
        "CM000678.2:g.2496827C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 2546828,
          "referenceAllele": "C",
          "start": 2546827
        }
      ],
      "hgvs": [
        "NC_000016.9:g.2546828C=",
        "CM000678.1:g.2546828C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 2486829,
          "referenceAllele": "C",
          "start": 2486828
        }
      ],
      "hgvs": [
        "NC_000016.8:g.2486829C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 26682,
          "referenceAllele": "C",
          "start": 26681
        }
      ],
      "hgvs": [
        "NG_028170.1:g.26682C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004116"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 862,
          "referenceAllele": "C",
          "start": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "ENST00000562105.2:c.679C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457896.2:p.Arg227="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760346"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 914,
          "referenceAllele": "C",
          "start": 913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "ENST00000567020.6:c.679C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454408.1:p.Arg227="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760510"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 838,
          "referenceAllele": "C",
          "start": 837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "ENST00000569874.2:c.679C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455005.2:p.Arg227="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760613"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 844,
          "referenceAllele": "C",
          "start": 843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "ENST00000643767.1:c.679C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494145.1:p.Arg227="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767458"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 838,
          "referenceAllele": "C",
          "start": 837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "ENST00000646147.1:c.679C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494678.1:p.Arg227="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768725",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000646147.1:c.679C="
          },
          "RefSeq": {
            "hgvs": "NM_001199107.2:c.679C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494678.1:p.Arg227="
          },
          "RefSeq": {
            "hgvs": "NP_001186036.1:p.Arg227="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 812,
          "referenceAllele": "C",
          "start": 811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "ENST00000293970.9:c.679C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000293970.5:p.Arg227="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253932"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 796,
          "referenceAllele": "C",
          "start": 795
        }
      ],
      "hgvs": [
        "ENST00000564543.1:c.679C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455547.1:p.Arg227="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS378154"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 819,
          "referenceAllele": "C",
          "start": 818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "ENST00000567020.5:c.679C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454408.1:p.Arg227="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379836"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 904,
          "referenceAllele": "C",
          "start": 903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "ENST00000627285.1:c.679C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486121.1:p.Arg227="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406865"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 873,
          "referenceAllele": "C",
          "start": 872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "ENST00000630263.2:c.679C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486835.1:p.Arg227="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407342"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 819,
          "referenceAllele": "C",
          "start": 818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "NM_001199107.1:c.679C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001186036.1:p.Arg227="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016986"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3082979920",
      "coordinates": [
        {
          "allele": "C",
          "end": 819,
          "referenceAllele": "C",
          "start": 818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "NM_020705.2:c.679C="
      ],
      "proteinEffect": {
        "hgvs": "NP_065756.1:p.Arg227="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036515"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 861,
          "referenceAllele": "C",
          "start": 860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "XM_017023493.1:c.679C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016878982.1:p.Arg227="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574249"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 949,
          "referenceAllele": "C",
          "start": 948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "XM_017023494.1:c.679C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016878983.1:p.Arg227="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574250"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 861,
          "referenceAllele": "C",
          "start": 860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "XM_017023495.1:c.679C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016878984.1:p.Arg227="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574251"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 861,
          "referenceAllele": "C",
          "start": 860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "XR_001751956.1:n.861C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598735"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 838,
          "referenceAllele": "C",
          "start": 837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "NM_001199107.2:c.679C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001186036.1:p.Arg227="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679497",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000646147.1:c.679C="
          },
          "RefSeq": {
            "hgvs": "NM_001199107.2:c.679C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494678.1:p.Arg227="
          },
          "RefSeq": {
            "hgvs": "NP_001186036.1:p.Arg227="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA3082979920",
      "coordinates": [
        {
          "allele": "C",
          "end": 838,
          "referenceAllele": "C",
          "start": 837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "NM_020705.3:c.679C="
      ],
      "proteinEffect": {
        "hgvs": "NP_065756.1:p.Arg227="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698270"
    }
  ],
  "type": "nucleotide"
}