{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA394377161",
  "communityStandardTitle": [
    "NM_001199107.2(TBC1D24):c.753C>G (p.Phe251Leu)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.2546902C>G?assembly=hg19",
        "id": "chr16:g.2546902C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.2496901C>G?assembly=hg38",
        "id": "chr16:g.2496901C>G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 2496901,
          "referenceAllele": "C",
          "start": 2496900
        }
      ],
      "hgvs": [
        "NC_000016.10:g.2496901C>G",
        "CM000678.2:g.2496901C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 2546902,
          "referenceAllele": "C",
          "start": 2546901
        }
      ],
      "hgvs": [
        "NC_000016.9:g.2546902C>G",
        "CM000678.1:g.2546902C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 2486903,
          "referenceAllele": "C",
          "start": 2486902
        }
      ],
      "hgvs": [
        "NC_000016.8:g.2486903C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 26756,
          "referenceAllele": "C",
          "start": 26755
        }
      ],
      "hgvs": [
        "NG_028170.1:g.26756C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004116"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 936,
          "referenceAllele": "C",
          "start": 935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "ENST00000562105.2:c.753C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457896.2:p.Phe251Leu",
        "hgvsWellDefined": "ENSP00000457896.2:p.Phe251Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760346"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 988,
          "referenceAllele": "C",
          "start": 987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "ENST00000567020.6:c.753C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454408.1:p.Phe251Leu",
        "hgvsWellDefined": "ENSP00000454408.1:p.Phe251Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760510"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 912,
          "referenceAllele": "C",
          "start": 911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "ENST00000569874.2:c.753C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455005.2:p.Phe251Leu",
        "hgvsWellDefined": "ENSP00000455005.2:p.Phe251Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760613"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 918,
          "referenceAllele": "C",
          "start": 917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "ENST00000643767.1:c.753C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494145.1:p.Phe251Leu",
        "hgvsWellDefined": "ENSP00000494145.1:p.Phe251Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767458"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 912,
          "referenceAllele": "C",
          "start": 911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "ENST00000646147.1:c.753C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494678.1:p.Phe251Leu",
        "hgvsWellDefined": "ENSP00000494678.1:p.Phe251Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768725",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000646147.1:c.753C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001199107.2:c.753C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494678.1:p.Phe251Leu"
          },
          "RefSeq": {
            "hgvs": "NP_001186036.1:p.Phe251Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 886,
          "referenceAllele": "C",
          "start": 885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "ENST00000293970.9:c.753C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000293970.5:p.Phe251Leu",
        "hgvsWellDefined": "ENSP00000293970.5:p.Phe251Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253932"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 870,
          "referenceAllele": "C",
          "start": 869
        }
      ],
      "hgvs": [
        "ENST00000564543.1:c.753C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455547.1:p.Phe251Leu",
        "hgvsWellDefined": "ENSP00000455547.1:p.Phe251Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS378154"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 893,
          "referenceAllele": "C",
          "start": 892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "ENST00000567020.5:c.753C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454408.1:p.Phe251Leu",
        "hgvsWellDefined": "ENSP00000454408.1:p.Phe251Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379836"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 978,
          "referenceAllele": "C",
          "start": 977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "ENST00000627285.1:c.753C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486121.1:p.Phe251Leu",
        "hgvsWellDefined": "ENSP00000486121.1:p.Phe251Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406865"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 947,
          "referenceAllele": "C",
          "start": 946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "ENST00000630263.2:c.753C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486835.1:p.Phe251Leu",
        "hgvsWellDefined": "ENSP00000486835.1:p.Phe251Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407342"
    },
    {
      "@id": "http://reg.genome.network/allele/PA110769",
      "coordinates": [
        {
          "allele": "G",
          "end": 893,
          "referenceAllele": "C",
          "start": 892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "NM_001199107.1:c.753C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186036.1:p.Phe251Leu",
        "hgvsWellDefined": "NP_001186036.1:p.Phe251Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016986"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916076456",
      "coordinates": [
        {
          "allele": "G",
          "end": 893,
          "referenceAllele": "C",
          "start": 892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "NM_020705.2:c.753C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_065756.1:p.Phe251Leu",
        "hgvsWellDefined": "NP_065756.1:p.Phe251Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036515"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 935,
          "referenceAllele": "C",
          "start": 934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "XM_017023493.1:c.753C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878982.1:p.Phe251Leu",
        "hgvsWellDefined": "XP_016878982.1:p.Phe251Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574249"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1023,
          "referenceAllele": "C",
          "start": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "XM_017023494.1:c.753C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878983.1:p.Phe251Leu",
        "hgvsWellDefined": "XP_016878983.1:p.Phe251Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574250"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 935,
          "referenceAllele": "C",
          "start": 934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "XM_017023495.1:c.753C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878984.1:p.Phe251Leu",
        "hgvsWellDefined": "XP_016878984.1:p.Phe251Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574251"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 935,
          "referenceAllele": "C",
          "start": 934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "XR_001751956.1:n.935C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598735"
    },
    {
      "@id": "http://reg.genome.network/allele/PA110769",
      "coordinates": [
        {
          "allele": "G",
          "end": 912,
          "referenceAllele": "C",
          "start": 911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "NM_001199107.2:c.753C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186036.1:p.Phe251Leu",
        "hgvsWellDefined": "NP_001186036.1:p.Phe251Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679497",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000646147.1:c.753C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001199107.2:c.753C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494678.1:p.Phe251Leu"
          },
          "RefSeq": {
            "hgvs": "NP_001186036.1:p.Phe251Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916076456",
      "coordinates": [
        {
          "allele": "G",
          "end": 912,
          "referenceAllele": "C",
          "start": 911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "NM_020705.3:c.753C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_065756.1:p.Phe251Leu",
        "hgvsWellDefined": "NP_065756.1:p.Phe251Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698270"
    }
  ],
  "type": "nucleotide"
}