{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA156356",
  "communityStandardTitle": [
    "NM_001199107.2(TBC1D24):c.533C>T (p.Ser178Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=136991[alleleid]",
        "alleleId": 136991,
        "preferredName": "NM_001199107.2(TBC1D24):c.533C>T (p.Ser178Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/133246",
        "RCV": [
          "RCV000119776",
          "RCV000144534",
          "RCV001847739",
          "RCV003764831",
          "RCV001092724"
        ],
        "variationId": 133246
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-2546682-C-T",
        "id": "16-2546682-C-T",
        "variant": "16:2546682 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.2546682C>T?assembly=hg19",
        "id": "chr16:g.2546682C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.2496681C>T?assembly=hg38",
        "id": "chr16:g.2496681C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/483352866",
        "rs": 483352866
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-2546682-C-T?dataset=gnomad_r2_1",
        "id": "16-2546682-C-T",
        "variant": "16:2546682 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-2496681-C-T?dataset=gnomad_r4",
        "id": "16-2496681-C-T",
        "variant": "16:2496681 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 2496681,
          "referenceAllele": "C",
          "start": 2496680
        }
      ],
      "hgvs": [
        "NC_000016.10:g.2496681C>T",
        "CM000678.2:g.2496681C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 2546682,
          "referenceAllele": "C",
          "start": 2546681
        }
      ],
      "hgvs": [
        "NC_000016.9:g.2546682C>T",
        "CM000678.1:g.2546682C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 2486683,
          "referenceAllele": "C",
          "start": 2486682
        }
      ],
      "hgvs": [
        "NC_000016.8:g.2486683C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26536,
          "referenceAllele": "C",
          "start": 26535
        }
      ],
      "hgvs": [
        "NG_028170.1:g.26536C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004116"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 716,
          "referenceAllele": "C",
          "start": 715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "ENST00000562105.2:c.533C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457896.2:p.Ser178Leu",
        "hgvsWellDefined": "ENSP00000457896.2:p.Ser178Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760346"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 768,
          "referenceAllele": "C",
          "start": 767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "ENST00000567020.6:c.533C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454408.1:p.Ser178Leu",
        "hgvsWellDefined": "ENSP00000454408.1:p.Ser178Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760510"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 692,
          "referenceAllele": "C",
          "start": 691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "ENST00000569874.2:c.533C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455005.2:p.Ser178Leu",
        "hgvsWellDefined": "ENSP00000455005.2:p.Ser178Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760613"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 698,
          "referenceAllele": "C",
          "start": 697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "ENST00000643767.1:c.533C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494145.1:p.Ser178Leu",
        "hgvsWellDefined": "ENSP00000494145.1:p.Ser178Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767458"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 692,
          "referenceAllele": "C",
          "start": 691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "ENST00000646147.1:c.533C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494678.1:p.Ser178Leu",
        "hgvsWellDefined": "ENSP00000494678.1:p.Ser178Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768725",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000646147.1:c.533C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001199107.2:c.533C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494678.1:p.Ser178Leu"
          },
          "RefSeq": {
            "hgvs": "NP_001186036.1:p.Ser178Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 666,
          "referenceAllele": "C",
          "start": 665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "ENST00000293970.9:c.533C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000293970.5:p.Ser178Leu",
        "hgvsWellDefined": "ENSP00000293970.5:p.Ser178Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253932"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 650,
          "referenceAllele": "C",
          "start": 649
        }
      ],
      "hgvs": [
        "ENST00000564543.1:c.533C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455547.1:p.Ser178Leu",
        "hgvsWellDefined": "ENSP00000455547.1:p.Ser178Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS378154"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 673,
          "referenceAllele": "C",
          "start": 672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "ENST00000567020.5:c.533C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454408.1:p.Ser178Leu",
        "hgvsWellDefined": "ENSP00000454408.1:p.Ser178Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379836"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 758,
          "referenceAllele": "C",
          "start": 757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "ENST00000627285.1:c.533C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486121.1:p.Ser178Leu",
        "hgvsWellDefined": "ENSP00000486121.1:p.Ser178Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406865"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 727,
          "referenceAllele": "C",
          "start": 726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "ENST00000630263.2:c.533C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486835.1:p.Ser178Leu",
        "hgvsWellDefined": "ENSP00000486835.1:p.Ser178Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407342"
    },
    {
      "@id": "http://reg.genome.network/allele/PA110777",
      "coordinates": [
        {
          "allele": "T",
          "end": 673,
          "referenceAllele": "C",
          "start": 672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "NM_001199107.1:c.533C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186036.1:p.Ser178Leu",
        "hgvsWellDefined": "NP_001186036.1:p.Ser178Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016986"
    },
    {
      "@id": "http://reg.genome.network/allele/PA156357",
      "coordinates": [
        {
          "allele": "T",
          "end": 673,
          "referenceAllele": "C",
          "start": 672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "NM_020705.2:c.533C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_065756.1:p.Ser178Leu",
        "hgvsWellDefined": "NP_065756.1:p.Ser178Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036515"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 715,
          "referenceAllele": "C",
          "start": 714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "XM_017023493.1:c.533C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878982.1:p.Ser178Leu",
        "hgvsWellDefined": "XP_016878982.1:p.Ser178Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574249"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 803,
          "referenceAllele": "C",
          "start": 802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "XM_017023494.1:c.533C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878983.1:p.Ser178Leu",
        "hgvsWellDefined": "XP_016878983.1:p.Ser178Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574250"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 715,
          "referenceAllele": "C",
          "start": 714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "XM_017023495.1:c.533C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878984.1:p.Ser178Leu",
        "hgvsWellDefined": "XP_016878984.1:p.Ser178Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574251"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 715,
          "referenceAllele": "C",
          "start": 714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "XR_001751956.1:n.715C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598735"
    },
    {
      "@id": "http://reg.genome.network/allele/PA110777",
      "coordinates": [
        {
          "allele": "T",
          "end": 692,
          "referenceAllele": "C",
          "start": 691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "NM_001199107.2:c.533C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186036.1:p.Ser178Leu",
        "hgvsWellDefined": "NP_001186036.1:p.Ser178Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679497",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000646147.1:c.533C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001199107.2:c.533C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494678.1:p.Ser178Leu"
          },
          "RefSeq": {
            "hgvs": "NP_001186036.1:p.Ser178Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA156357",
      "coordinates": [
        {
          "allele": "T",
          "end": 692,
          "referenceAllele": "C",
          "start": 691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "NM_020705.3:c.533C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_065756.1:p.Ser178Leu",
        "hgvsWellDefined": "NP_065756.1:p.Ser178Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698270"
    }
  ],
  "type": "nucleotide"
}