{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2102689361",
  "communityStandardTitle": [
    "NM_014832.5(TBC1D4):c.2455G= (p.Val819=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1062087",
        "rs": 1062087
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 75310080,
          "referenceAllele": "C",
          "start": 75310079
        }
      ],
      "hgvs": [
        "NC_000013.11:g.75310080C=",
        "CM000675.2:g.75310080C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 75884216,
          "referenceAllele": "C",
          "start": 75884215
        }
      ],
      "hgvs": [
        "NC_000013.10:g.75884216C=",
        "CM000675.1:g.75884216C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 74782217,
          "referenceAllele": "C",
          "start": 74782216
        }
      ],
      "hgvs": [
        "NC_000013.9:g.74782217C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 177089,
          "referenceAllele": "G",
          "start": 177088
        }
      ],
      "hgvs": [
        "NG_042850.1:g.177089G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS006042"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2857,
          "referenceAllele": "G",
          "start": 2856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019165",
      "geneNCBI_id": 9882,
      "geneSymbol": "TBC1D4",
      "hgvs": [
        "ENST00000377636.8:c.2455G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366863.3:p.Val819="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751943",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000377636.8:c.2455G="
          },
          "RefSeq": {
            "hgvs": "NM_014832.5:c.2455G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000366863.3:p.Val819="
          },
          "RefSeq": {
            "hgvs": "NP_055647.2:p.Val819="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1925,
          "referenceAllele": "G",
          "start": 1924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019165",
      "geneNCBI_id": 9882,
      "geneSymbol": "TBC1D4",
      "hgvs": [
        "ENST00000648194.1:c.1723G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496983.1:p.Val575="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769841"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2613,
          "referenceAllele": "G",
          "start": 2612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019165",
      "geneNCBI_id": 9882,
      "geneSymbol": "TBC1D4",
      "hgvs": [
        "ENST00000377625.6:c.2266G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366852.2:p.Val756="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271663"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2802,
          "referenceAllele": "G",
          "start": 2801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019165",
      "geneNCBI_id": 9882,
      "geneSymbol": "TBC1D4",
      "hgvs": [
        "ENST00000377636.7:c.2455G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366863.3:p.Val819="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271669"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 802,
          "referenceAllele": "G",
          "start": 801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019165",
      "geneNCBI_id": 9882,
      "geneSymbol": "TBC1D4",
      "hgvs": [
        "ENST00000413735.1:c.802G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396932.1:p.Val268="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283211"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2778,
          "referenceAllele": "G",
          "start": 2777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019165",
      "geneNCBI_id": 9882,
      "geneSymbol": "TBC1D4",
      "hgvs": [
        "ENST00000431480.6:c.2431G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395986.2:p.Val811="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291637"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 314,
          "referenceAllele": "G",
          "start": 313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019165",
      "geneNCBI_id": 9882,
      "geneSymbol": "TBC1D4",
      "hgvs": [
        "ENST00000493487.1:n.314G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS330629"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2778,
          "referenceAllele": "G",
          "start": 2777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019165",
      "geneNCBI_id": 9882,
      "geneSymbol": "TBC1D4",
      "hgvs": [
        "NM_001286658.1:c.2431G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001273587.1:p.Val811="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246796"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2832,
          "referenceAllele": "G",
          "start": 2831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019165",
      "geneNCBI_id": 9882,
      "geneSymbol": "TBC1D4",
      "hgvs": [
        "NM_001286658.2:c.2431G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001273587.1:p.Val811="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023045"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2613,
          "referenceAllele": "G",
          "start": 2612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019165",
      "geneNCBI_id": 9882,
      "geneSymbol": "TBC1D4",
      "hgvs": [
        "NM_001286659.1:c.2266G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001273588.1:p.Val756="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023046"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2667,
          "referenceAllele": "G",
          "start": 2666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019165",
      "geneNCBI_id": 9882,
      "geneSymbol": "TBC1D4",
      "hgvs": [
        "NM_001286659.2:c.2266G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001273588.1:p.Val756="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023047"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3080622164",
      "coordinates": [
        {
          "allele": "G",
          "end": 2802,
          "referenceAllele": "G",
          "start": 2801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019165",
      "geneNCBI_id": 9882,
      "geneSymbol": "TBC1D4",
      "hgvs": [
        "NM_014832.3:c.2455G="
      ],
      "proteinEffect": {
        "hgvs": "NP_055647.2:p.Val819="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033507"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3080622164",
      "coordinates": [
        {
          "allele": "G",
          "end": 2856,
          "referenceAllele": "G",
          "start": 2855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019165",
      "geneNCBI_id": 9882,
      "geneSymbol": "TBC1D4",
      "hgvs": [
        "NM_014832.4:c.2455G="
      ],
      "proteinEffect": {
        "hgvs": "NP_055647.2:p.Val819="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033508"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3259,
          "referenceAllele": "G",
          "start": 3258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019165",
      "geneNCBI_id": 9882,
      "geneSymbol": "TBC1D4",
      "hgvs": [
        "XM_005266603.1:c.2380G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005266660.1:p.Val794="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065126"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2058,
          "referenceAllele": "G",
          "start": 2057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019165",
      "geneNCBI_id": 9882,
      "geneSymbol": "TBC1D4",
      "hgvs": [
        "XM_005266605.1:c.1912G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005266662.1:p.Val638="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065127"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1996,
          "referenceAllele": "G",
          "start": 1995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019165",
      "geneNCBI_id": 9882,
      "geneSymbol": "TBC1D4",
      "hgvs": [
        "XM_006719903.2:c.1981G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006719966.1:p.Val661="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073386"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3223,
          "referenceAllele": "G",
          "start": 3222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019165",
      "geneNCBI_id": 9882,
      "geneSymbol": "TBC1D4",
      "hgvs": [
        "XM_011535331.1:c.2344G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533633.1:p.Val782="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102339"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3757,
          "referenceAllele": "G",
          "start": 3756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019165",
      "geneNCBI_id": 9882,
      "geneSymbol": "TBC1D4",
      "hgvs": [
        "XM_005266603.2:c.2380G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005266660.1:p.Val794="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536264"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2059,
          "referenceAllele": "G",
          "start": 2058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019165",
      "geneNCBI_id": 9882,
      "geneSymbol": "TBC1D4",
      "hgvs": [
        "XM_005266605.3:c.1912G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005266662.1:p.Val638="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536265"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2544,
          "referenceAllele": "G",
          "start": 2543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019165",
      "geneNCBI_id": 9882,
      "geneSymbol": "TBC1D4",
      "hgvs": [
        "XM_006719903.3:c.1981G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006719966.1:p.Val661="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539978"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3721,
          "referenceAllele": "G",
          "start": 3720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019165",
      "geneNCBI_id": 9882,
      "geneSymbol": "TBC1D4",
      "hgvs": [
        "XM_011535331.2:c.2344G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533633.1:p.Val782="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551993"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1870,
          "referenceAllele": "G",
          "start": 1869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019165",
      "geneNCBI_id": 9882,
      "geneSymbol": "TBC1D4",
      "hgvs": [
        "XM_017020882.2:c.1723G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016876371.1:p.Val575="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572242"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1759,
          "referenceAllele": "G",
          "start": 1758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019165",
      "geneNCBI_id": 9882,
      "geneSymbol": "TBC1D4",
      "hgvs": [
        "XM_017020883.2:c.1612G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016876372.1:p.Val538="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572243"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2316,
          "referenceAllele": "G",
          "start": 2315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019165",
      "geneNCBI_id": 9882,
      "geneSymbol": "TBC1D4",
      "hgvs": [
        "XM_017020884.2:c.22G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016876373.1:p.Val8="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572244"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3080622164",
      "coordinates": [
        {
          "allele": "G",
          "end": 2857,
          "referenceAllele": "G",
          "start": 2856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019165",
      "geneNCBI_id": 9882,
      "geneSymbol": "TBC1D4",
      "hgvs": [
        "NM_014832.5:c.2455G="
      ],
      "proteinEffect": {
        "hgvs": "NP_055647.2:p.Val819="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697363",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000377636.8:c.2455G="
          },
          "RefSeq": {
            "hgvs": "NM_014832.5:c.2455G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000366863.3:p.Val819="
          },
          "RefSeq": {
            "hgvs": "NP_055647.2:p.Val819="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}