{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3217641358",
  "communityStandardTitle": [
    "NM_001199107.2(TBC1D24):c.1460A= (p.His487=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/797044549",
        "rs": 797044549
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 2500425,
          "referenceAllele": "A",
          "start": 2500424
        }
      ],
      "hgvs": [
        "NC_000016.10:g.2500425A=",
        "CM000678.2:g.2500425A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 2550426,
          "referenceAllele": "A",
          "start": 2550425
        }
      ],
      "hgvs": [
        "NC_000016.9:g.2550426A=",
        "CM000678.1:g.2550426A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 2490427,
          "referenceAllele": "A",
          "start": 2490426
        }
      ],
      "hgvs": [
        "NC_000016.8:g.2490427A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 30280,
          "referenceAllele": "A",
          "start": 30279
        }
      ],
      "hgvs": [
        "NG_028170.1:g.30280A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004116"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1677,
          "referenceAllele": "A",
          "start": 1676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "ENST00000567020.6:c.1442A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454408.1:p.His481="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760510"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1601,
          "referenceAllele": "A",
          "start": 1600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "ENST00000569874.2:c.1442A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455005.2:p.His481="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760613"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1619,
          "referenceAllele": "A",
          "start": 1618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "ENST00000646147.1:c.1460A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494678.1:p.His487="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768725",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000646147.1:c.1460A="
          },
          "RefSeq": {
            "hgvs": "NM_001199107.2:c.1460A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494678.1:p.His487="
          },
          "RefSeq": {
            "hgvs": "NP_001186036.1:p.His487="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1593,
          "referenceAllele": "A",
          "start": 1592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "ENST00000293970.9:c.1460A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000293970.5:p.His487="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253932"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1082,
          "endIntronDirection": "+",
          "endIntronOffset": 3312,
          "referenceAllele": "A",
          "start": 1082,
          "startIntronDirection": "+",
          "startIntronOffset": 3311
        }
      ],
      "hgvs": [
        "ENST00000564543.1:c.965+3312A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455547.1:n.965+3312A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS378154"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 329,
          "referenceAllele": "A",
          "start": 328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "ENST00000564879.2:c.329A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS378394"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1582,
          "referenceAllele": "A",
          "start": 1581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "ENST00000567020.5:c.1442A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454408.1:p.His481="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379836"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1667,
          "referenceAllele": "A",
          "start": 1666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "ENST00000627285.1:c.1442A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486121.1:p.His481="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406865"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1632,
          "referenceAllele": "A",
          "start": 1631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "ENST00000630263.2:c.*418A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486835.1:n.*418A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407342"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1600,
          "referenceAllele": "A",
          "start": 1599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "NM_001199107.1:c.1460A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001186036.1:p.His487="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016986"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083221297",
      "coordinates": [
        {
          "allele": "A",
          "end": 1582,
          "referenceAllele": "A",
          "start": 1581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "NM_020705.2:c.1442A="
      ],
      "proteinEffect": {
        "hgvs": "NP_065756.1:p.His481="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036515"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1642,
          "referenceAllele": "A",
          "start": 1641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "XM_017023493.1:c.1460A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016878982.1:p.His487="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574249"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1712,
          "referenceAllele": "A",
          "start": 1711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "XM_017023494.1:c.1442A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016878983.1:p.His481="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574250"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1624,
          "referenceAllele": "A",
          "start": 1623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "XM_017023495.1:c.1442A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016878984.1:p.His481="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574251"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1642,
          "referenceAllele": "A",
          "start": 1641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "XR_001751956.1:n.1642A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598735"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1619,
          "referenceAllele": "A",
          "start": 1618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "NM_001199107.2:c.1460A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001186036.1:p.His487="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679497",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000646147.1:c.1460A="
          },
          "RefSeq": {
            "hgvs": "NM_001199107.2:c.1460A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494678.1:p.His487="
          },
          "RefSeq": {
            "hgvs": "NP_001186036.1:p.His487="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083221297",
      "coordinates": [
        {
          "allele": "A",
          "end": 1601,
          "referenceAllele": "A",
          "start": 1600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "NM_020705.3:c.1442A="
      ],
      "proteinEffect": {
        "hgvs": "NP_065756.1:p.His481="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698270"
    }
  ],
  "type": "nucleotide"
}