{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2202260709",
  "communityStandardTitle": [
    "NM_001199107.2(TBC1D24):c.999G= (p.Leu333=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/797044548",
        "rs": 797044548
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 2498253,
          "referenceAllele": "G",
          "start": 2498252
        }
      ],
      "hgvs": [
        "NC_000016.10:g.2498253G=",
        "CM000678.2:g.2498253G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 2548254,
          "referenceAllele": "G",
          "start": 2548253
        }
      ],
      "hgvs": [
        "NC_000016.9:g.2548254G=",
        "CM000678.1:g.2548254G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 2488255,
          "referenceAllele": "G",
          "start": 2488254
        }
      ],
      "hgvs": [
        "NC_000016.8:g.2488255G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 28108,
          "referenceAllele": "G",
          "start": 28107
        }
      ],
      "hgvs": [
        "NG_028170.1:g.28108G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004116"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1182,
          "referenceAllele": "G",
          "start": 1181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "ENST00000562105.2:c.999G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457896.2:p.Leu333="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760346"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1216,
          "referenceAllele": "G",
          "start": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "ENST00000567020.6:c.981G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454408.1:p.Leu327="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760510"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1140,
          "referenceAllele": "G",
          "start": 1139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "ENST00000569874.2:c.981G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455005.2:p.Leu327="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760613"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1146,
          "referenceAllele": "G",
          "start": 1145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "ENST00000643767.1:c.981G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494145.1:p.Leu327="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767458"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1158,
          "referenceAllele": "G",
          "start": 1157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "ENST00000646147.1:c.999G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494678.1:p.Leu333="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768725",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000646147.1:c.999G="
          },
          "RefSeq": {
            "hgvs": "NM_001199107.2:c.999G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494678.1:p.Leu333="
          },
          "RefSeq": {
            "hgvs": "NP_001186036.1:p.Leu333="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1132,
          "referenceAllele": "G",
          "start": 1131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "ENST00000293970.9:c.999G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000293970.5:p.Leu333="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253932"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1082,
          "endIntronDirection": "+",
          "endIntronOffset": 1140,
          "referenceAllele": "G",
          "start": 1082,
          "startIntronDirection": "+",
          "startIntronOffset": 1139
        }
      ],
      "hgvs": [
        "ENST00000564543.1:c.965+1140G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455547.1:n.965+1140G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS378154"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1121,
          "referenceAllele": "G",
          "start": 1120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "ENST00000567020.5:c.981G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454408.1:p.Leu327="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379836"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1206,
          "referenceAllele": "G",
          "start": 1205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "ENST00000627285.1:c.981G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486121.1:p.Leu327="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406865"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1171,
          "referenceAllele": "G",
          "start": 1170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "ENST00000630263.2:c.977G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486835.1:p.Trp326="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407342"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1139,
          "referenceAllele": "G",
          "start": 1138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "NM_001199107.1:c.999G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001186036.1:p.Leu333="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016986"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083017329",
      "coordinates": [
        {
          "allele": "G",
          "end": 1121,
          "referenceAllele": "G",
          "start": 1120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "NM_020705.2:c.981G="
      ],
      "proteinEffect": {
        "hgvs": "NP_065756.1:p.Leu327="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036515"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1181,
          "referenceAllele": "G",
          "start": 1180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "XM_017023493.1:c.999G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016878982.1:p.Leu333="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574249"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1251,
          "referenceAllele": "G",
          "start": 1250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "XM_017023494.1:c.981G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016878983.1:p.Leu327="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574250"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1163,
          "referenceAllele": "G",
          "start": 1162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "XM_017023495.1:c.981G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016878984.1:p.Leu327="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574251"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1181,
          "referenceAllele": "G",
          "start": 1180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "XR_001751956.1:n.1181G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598735"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1158,
          "referenceAllele": "G",
          "start": 1157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "NM_001199107.2:c.999G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001186036.1:p.Leu333="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679497",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000646147.1:c.999G="
          },
          "RefSeq": {
            "hgvs": "NM_001199107.2:c.999G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494678.1:p.Leu333="
          },
          "RefSeq": {
            "hgvs": "NP_001186036.1:p.Leu333="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083017329",
      "coordinates": [
        {
          "allele": "G",
          "end": 1140,
          "referenceAllele": "G",
          "start": 1139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "NM_020705.3:c.981G="
      ],
      "proteinEffect": {
        "hgvs": "NP_065756.1:p.Leu327="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698270"
    }
  ],
  "type": "nucleotide"
}