{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4785316",
  "communityStandardTitle": [
    "NM_018972.4(GDAP1):c.*1415C>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=900041[alleleid]",
        "alleleId": 900041,
        "preferredName": "NM_018972.4(GDAP1):c.*1415C>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/908105",
        "RCV": [
          "RCV001158402",
          "RCV001158403"
        ],
        "variationId": 908105
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/8-75278017-C-T",
        "id": "8-75278017-C-T",
        "variant": "8:75278017 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.75278017C>T?assembly=hg19",
        "id": "chr8:g.75278017C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.74365782C>T?assembly=hg38",
        "id": "chr8:g.74365782C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/558846970",
        "rs": 558846970
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-75278017-C-T?dataset=gnomad_r2_1",
        "id": "8-75278017-C-T",
        "variant": "8:75278017 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-74365782-C-T?dataset=gnomad_r3",
        "id": "8-74365782-C-T",
        "variant": "8:74365782 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-74365782-C-T?dataset=gnomad_r4",
        "id": "8-74365782-C-T",
        "variant": "8:74365782 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 74365782,
          "referenceAllele": "C",
          "start": 74365781
        }
      ],
      "hgvs": [
        "NC_000008.11:g.74365782C>T",
        "CM000670.2:g.74365782C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 75278017,
          "referenceAllele": "C",
          "start": 75278016
        }
      ],
      "hgvs": [
        "NC_000008.10:g.75278017C>T",
        "CM000670.1:g.75278017C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 75440572,
          "referenceAllele": "C",
          "start": 75440571
        }
      ],
      "hgvs": [
        "NC_000008.9:g.75440572C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 49653,
          "referenceAllele": "C",
          "start": 49652
        }
      ],
      "hgvs": [
        "NG_008787.2:g.49653C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001214"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 49653,
          "referenceAllele": "C",
          "start": 49652
        }
      ],
      "hgvs": [
        "NG_008787.3:g.49653C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616113"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2551,
          "referenceAllele": "C",
          "start": 2550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000220822.12:c.*1415C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000220822.7:n.*1415C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740476",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000220822.12:c.*1415C>T"
          },
          "RefSeq": {
            "hgvs": "NM_018972.4:c.*1415C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000220822.7:n.*1415C>T"
          },
          "RefSeq": {
            "hgvs": "NP_061845.2:n.*1415C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2419,
          "referenceAllele": "C",
          "start": 2418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000434412.3:c.*1415C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417006.3:n.*1415C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755505"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2348,
          "referenceAllele": "C",
          "start": 2347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000521096.6:n.2348C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758716"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 774,
          "endIntronDirection": "+",
          "endIntronOffset": 1619,
          "referenceAllele": "C",
          "start": 774,
          "startIntronDirection": "+",
          "startIntronOffset": 1618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000522568.2:c.*545+1619C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430136.1:n.*545+1619C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758781"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 224,
          "endIntronDirection": "+",
          "endIntronOffset": 14461,
          "referenceAllele": "C",
          "start": 224,
          "startIntronDirection": "+",
          "startIntronOffset": 14460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000523640.2:c.165+14461C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502017.1:n.165+14461C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758818"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 339,
          "endIntronDirection": "+",
          "endIntronOffset": 2729,
          "referenceAllele": "C",
          "start": 339,
          "startIntronDirection": "+",
          "startIntronOffset": 2728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000524195.2:c.280+2729C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502308.1:n.280+2729C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758838"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2331,
          "referenceAllele": "C",
          "start": 2330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000674612.1:c.*1415C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501864.1:n.*1415C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774552"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 756,
          "endIntronDirection": "+",
          "endIntronOffset": 2729,
          "referenceAllele": "C",
          "start": 756,
          "startIntronDirection": "+",
          "startIntronOffset": 2728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000674710.1:c.694+2729C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502762.1:n.694+2729C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774637"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4305,
          "referenceAllele": "C",
          "start": 4304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000674754.1:c.*4055C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502063.1:n.*4055C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774673"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 577,
          "endIntronDirection": "+",
          "endIntronOffset": 2729,
          "referenceAllele": "C",
          "start": 577,
          "startIntronDirection": "+",
          "startIntronOffset": 2728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000674756.1:c.*366+2729C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501860.1:n.*366+2729C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774675"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2488,
          "referenceAllele": "C",
          "start": 2487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000674806.1:c.*1415C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502637.1:n.*1415C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774717"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2406,
          "referenceAllele": "C",
          "start": 2405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000674865.1:c.*1415C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502437.1:n.*1415C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774763"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3373,
          "referenceAllele": "C",
          "start": 3372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000674926.1:c.*3124C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501799.1:n.*3124C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774812"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2510,
          "referenceAllele": "C",
          "start": 2509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000674934.1:c.*2180C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502187.1:n.*2180C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774820"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3337,
          "referenceAllele": "C",
          "start": 3336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000674944.1:c.*3095C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501858.1:n.*3095C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774828"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 712,
          "endIntronDirection": "+",
          "endIntronOffset": 2729,
          "referenceAllele": "C",
          "start": 712,
          "startIntronDirection": "+",
          "startIntronOffset": 2728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000674946.1:c.694+2729C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501569.1:n.694+2729C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774830"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2245,
          "referenceAllele": "C",
          "start": 2244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000674973.1:c.*1415C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502447.1:n.*1415C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774855"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2431,
          "referenceAllele": "C",
          "start": 2430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000675007.1:c.*2230C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502119.1:n.*2230C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774884"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2548,
          "referenceAllele": "C",
          "start": 2547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000675165.1:c.*1415C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502612.1:n.*1415C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775030"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2348,
          "referenceAllele": "C",
          "start": 2347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000675220.1:c.*1415C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502588.1:n.*1415C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775071"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2433,
          "referenceAllele": "C",
          "start": 2432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000675265.1:c.*2242C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501848.1:n.*2242C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775108"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2232,
          "referenceAllele": "C",
          "start": 2231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000675336.1:c.*1978C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502120.1:n.*1978C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775168"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2499,
          "referenceAllele": "C",
          "start": 2498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000675376.1:c.*1415C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502838.1:n.*1415C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775206"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2623,
          "referenceAllele": "C",
          "start": 2622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000675463.1:c.*1415C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502327.1:n.*1415C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775282"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2178,
          "referenceAllele": "C",
          "start": 2177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000675472.1:c.*1978C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501946.1:n.*1978C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775291"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 608,
          "endIntronDirection": "+",
          "endIntronOffset": 2729,
          "referenceAllele": "C",
          "start": 608,
          "startIntronDirection": "+",
          "startIntronOffset": 2728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000675560.1:c.*366+2729C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502118.1:n.*366+2729C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775360"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2414,
          "referenceAllele": "C",
          "start": 2413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000675625.1:c.*2164C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501626.1:n.*2164C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775418"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2639,
          "referenceAllele": "C",
          "start": 2638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000675633.1:c.*1899C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501785.1:n.*1899C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775426"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2453,
          "referenceAllele": "C",
          "start": 2452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000675661.1:c.*2252C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501958.1:n.*2252C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775451"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4450,
          "referenceAllele": "C",
          "start": 4449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000675706.1:n.4450C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775489"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2531,
          "referenceAllele": "C",
          "start": 2530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000675821.1:c.*1415C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502198.1:n.*1415C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775591"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2358,
          "referenceAllele": "C",
          "start": 2357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000675832.1:c.*2164C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502041.1:n.*2164C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775600"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2627,
          "referenceAllele": "C",
          "start": 2626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000675944.1:c.*1415C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502673.1:n.*1415C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775697"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 753,
          "endIntronDirection": "+",
          "endIntronOffset": 2729,
          "referenceAllele": "C",
          "start": 753,
          "startIntronDirection": "+",
          "startIntronOffset": 2728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000675999.1:c.694+2729C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502572.1:n.694+2729C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775742"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2542,
          "referenceAllele": "C",
          "start": 2541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000676049.1:c.*2394C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501912.1:n.*2394C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775787"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2624,
          "referenceAllele": "C",
          "start": 2623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000676112.1:c.*1415C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502295.1:n.*1415C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775841"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2567,
          "referenceAllele": "C",
          "start": 2566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000676143.1:c.*1415C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502828.1:n.*1415C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775868"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 743,
          "endIntronDirection": "+",
          "endIntronOffset": 2729,
          "referenceAllele": "C",
          "start": 743,
          "startIntronDirection": "+",
          "startIntronOffset": 2728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000676207.1:c.694+2729C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502638.1:n.694+2729C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775923"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2269,
          "referenceAllele": "C",
          "start": 2268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000676377.1:c.*1415C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502756.1:n.*1415C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776067"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2551,
          "referenceAllele": "C",
          "start": 2550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000676415.1:c.*1798C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502665.1:n.*1798C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776099"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2511,
          "referenceAllele": "C",
          "start": 2510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000676443.1:c.*1415C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501769.1:n.*1415C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776124"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2572,
          "referenceAllele": "C",
          "start": 2571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000220822.11:c.*1415C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000220822.7:n.*1415C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248243"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 103,
          "endIntronDirection": "+",
          "endIntronOffset": 2729,
          "referenceAllele": "C",
          "start": 103,
          "startIntronDirection": "+",
          "startIntronOffset": 2728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000524195.1:n.103+2729C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS350403"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2441,
          "referenceAllele": "C",
          "start": 2440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "NM_001040875.2:c.*1415C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035808.1:n.*1415C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009641"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2571,
          "referenceAllele": "C",
          "start": 2570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "NM_018972.2:c.*1415C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_061845.2:n.*1415C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035982"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2426,
          "referenceAllele": "C",
          "start": 2425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "NR_046346.1:n.2426C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051616"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3529,
          "referenceAllele": "C",
          "start": 3528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "XM_011517551.1:c.*1415C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515853.1:n.*1415C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084739"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2272,
          "referenceAllele": "C",
          "start": 2271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "XM_011517552.1:c.*1415C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515854.1:n.*1415C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084740"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2441,
          "referenceAllele": "C",
          "start": 2440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "NM_001040875.3:c.*1415C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035808.1:n.*1415C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511161"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2426,
          "referenceAllele": "C",
          "start": 2425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "NM_001362929.1:c.*1415C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349858.1:n.*1415C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523111"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2397,
          "referenceAllele": "C",
          "start": 2396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "NM_001362930.1:c.*1415C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349859.1:n.*1415C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523112"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 773,
          "endIntronDirection": "+",
          "endIntronOffset": 2729,
          "referenceAllele": "C",
          "start": 773,
          "startIntronDirection": "+",
          "startIntronOffset": 2728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "NM_001362931.1:c.694+2729C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349860.1:n.694+2729C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523113"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2378,
          "referenceAllele": "C",
          "start": 2377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "NM_001362932.1:c.*1415C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349861.1:n.*1415C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523114"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2571,
          "referenceAllele": "C",
          "start": 2570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "NM_018972.3:c.*1415C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_061845.2:n.*1415C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525932"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 753,
          "endIntronDirection": "+",
          "endIntronOffset": 2729,
          "referenceAllele": "C",
          "start": 753,
          "startIntronDirection": "+",
          "startIntronOffset": 2728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "NM_001362931.2:c.694+2729C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349860.1:n.694+2729C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690576"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2551,
          "referenceAllele": "C",
          "start": 2550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "NM_018972.4:c.*1415C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_061845.2:n.*1415C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698118",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000220822.12:c.*1415C>T"
          },
          "RefSeq": {
            "hgvs": "NM_018972.4:c.*1415C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000220822.7:n.*1415C>T"
          },
          "RefSeq": {
            "hgvs": "NP_061845.2:n.*1415C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2421,
          "referenceAllele": "C",
          "start": 2420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "NM_001040875.4:c.*1415C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035808.1:n.*1415C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711670"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2406,
          "referenceAllele": "C",
          "start": 2405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "NM_001362929.2:c.*1415C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349858.1:n.*1415C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720677"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2377,
          "referenceAllele": "C",
          "start": 2376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "NM_001362930.2:c.*1415C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349859.1:n.*1415C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720678"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2358,
          "referenceAllele": "C",
          "start": 2357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "NM_001362932.2:c.*1415C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349861.1:n.*1415C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720679"
    }
  ],
  "type": "nucleotide"
}