{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2466674904",
  "communityStandardTitle": [
    "NM_000116.5(TAFAZZIN):c.153C= (p.Tyr51=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894941",
        "rs": 104894941
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 154412129,
          "referenceAllele": "C",
          "start": 154412128
        }
      ],
      "hgvs": [
        "NC_000023.11:g.154412129C=",
        "CM000685.2:g.154412129C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 153640466,
          "referenceAllele": "C",
          "start": 153640465
        }
      ],
      "hgvs": [
        "NC_000023.10:g.153640466C=",
        "CM000685.1:g.153640466C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 153293660,
          "referenceAllele": "C",
          "start": 153293659
        }
      ],
      "hgvs": [
        "NC_000023.9:g.153293660C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5590,
          "referenceAllele": "C",
          "start": 5589
        }
      ],
      "hgvs": [
        "NG_009634.1:g.5590C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001624"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4960,
          "referenceAllele": "G",
          "start": 4959
        }
      ],
      "hgvs": [
        "NG_012884.2:g.4960G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002608"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5595,
          "referenceAllele": "C",
          "start": 5594
        }
      ],
      "hgvs": [
        "NG_009634.2:g.5595C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706097"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 581,
          "referenceAllele": "C",
          "start": 580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000698234.1:n.581C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909245"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 140,
          "referenceAllele": "C",
          "start": 139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000698235.1:n.140C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909246"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 115,
          "referenceAllele": "C",
          "start": 114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000698317.1:n.115C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909309"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 498,
          "referenceAllele": "C",
          "start": 497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000475699.6:c.207C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419854.3:p.Tyr69="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757161"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 118,
          "referenceAllele": "C",
          "start": 117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000476800.2:n.118C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757202"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 44,
          "referenceAllele": "C",
          "start": 43
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000483674.3:n.44C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757444"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 458,
          "referenceAllele": "C",
          "start": 457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000601016.6:c.153C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000469981.1:p.Tyr51="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761529",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000601016.6:c.153C="
          },
          "RefSeq": {
            "hgvs": "NM_000116.5:c.153C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000469981.1:p.Tyr51="
          },
          "RefSeq": {
            "hgvs": "NP_000107.1:p.Tyr51="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 347,
          "referenceAllele": "C",
          "start": 346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000612012.5:c.153C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482070.2:p.Tyr51="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761855"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 458,
          "referenceAllele": "C",
          "start": 457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000612460.5:c.153C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481037.1:p.Tyr51="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761877"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 511,
          "referenceAllele": "C",
          "start": 510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000614595.2:n.511C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS761975"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 466,
          "referenceAllele": "C",
          "start": 465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000615658.5:n.466C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762024"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 207,
          "referenceAllele": "C",
          "start": 206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000616020.5:c.207C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483636.2:p.Tyr69="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762043"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 435,
          "referenceAllele": "C",
          "start": 434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000617701.5:c.153C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481645.1:p.Tyr51="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762134"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 206,
          "referenceAllele": "C",
          "start": 205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000621647.2:n.206C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762335"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 55,
          "endIntronDirection": "+",
          "endIntronOffset": 177,
          "referenceAllele": "C",
          "start": 55,
          "startIntronDirection": "+",
          "startIntronOffset": 176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000652358.1:c.-57+177C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498464.1:n.-57+177C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772163"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 72,
          "referenceAllele": "C",
          "start": 71
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000652390.1:c.72C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498858.1:p.Tyr24="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772182"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 314,
          "referenceAllele": "C",
          "start": 313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000652476.1:n.314C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772231"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 447,
          "referenceAllele": "C",
          "start": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000652682.1:c.153C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498288.1:p.Tyr51="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772349"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 205,
          "referenceAllele": "C",
          "start": 204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000652685.1:n.205C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772351"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 248,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 248,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000369776.8:c.163+123C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358791.4:n.163+123C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267699"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 167,
          "referenceAllele": "C",
          "start": 166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000439735.2:c.153C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398193.1:p.Tyr51="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295575"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 456,
          "referenceAllele": "C",
          "start": 455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000475699.5:c.153C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419854.2:p.Tyr51="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS316922"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 441,
          "referenceAllele": "C",
          "start": 440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000601016.5:c.153C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000469981.1:p.Tyr51="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS397544"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 495,
          "referenceAllele": "C",
          "start": 494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000612012.4:c.207C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482070.1:p.Tyr69="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401117"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 441,
          "referenceAllele": "C",
          "start": 440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000612460.4:c.153C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481037.1:p.Tyr51="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401315"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 456,
          "referenceAllele": "C",
          "start": 455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000613002.4:c.153C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478154.1:p.Tyr51="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401555"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 473,
          "referenceAllele": "C",
          "start": 472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000613634.4:n.473C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS401832"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 372,
          "referenceAllele": "C",
          "start": 371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000614595.1:n.372C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS402268"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 479,
          "referenceAllele": "C",
          "start": 478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000615658.4:n.479C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS402711"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 436,
          "referenceAllele": "C",
          "start": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000615986.4:c.153C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480133.1:p.Tyr51="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402857"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 510,
          "referenceAllele": "C",
          "start": 509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000616020.4:c.207C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483636.1:p.Tyr69="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402877"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 435,
          "referenceAllele": "C",
          "start": 434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000617701.4:c.153C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481645.1:p.Tyr51="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403592"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 423,
          "referenceAllele": "C",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000620808.4:c.153C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479311.1:p.Tyr51="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404991"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 438,
          "referenceAllele": "C",
          "start": 437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000621647.1:n.438C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS405367"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063194326",
      "coordinates": [
        {
          "allele": "C",
          "end": 479,
          "referenceAllele": "C",
          "start": 478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_000116.4:c.153C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000107.1:p.Tyr51="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006178"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 533,
          "referenceAllele": "C",
          "start": 532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_001303465.1:c.207C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001290394.1:p.Tyr69="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025541"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 479,
          "referenceAllele": "C",
          "start": 478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_181311.3:c.153C="
      ],
      "proteinEffect": {
        "hgvs": "NP_851828.1:p.Tyr51="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043677"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 479,
          "referenceAllele": "C",
          "start": 478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_181312.3:c.153C="
      ],
      "proteinEffect": {
        "hgvs": "NP_851829.1:p.Tyr51="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043678"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 479,
          "referenceAllele": "C",
          "start": 478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_181313.3:c.153C="
      ],
      "proteinEffect": {
        "hgvs": "NP_851830.1:p.Tyr51="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043679"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 479,
          "referenceAllele": "C",
          "start": 478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NR_024048.2:n.479C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS046722"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 510,
          "referenceAllele": "C",
          "start": 509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_006724836.1:c.207C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006724899.1:p.Tyr69="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075736"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 510,
          "referenceAllele": "C",
          "start": 509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_006724837.1:c.207C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006724900.1:p.Tyr69="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075737"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 510,
          "referenceAllele": "C",
          "start": 509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_006724839.1:c.207C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006724902.1:p.Tyr69="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075738"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 137,
          "referenceAllele": "C",
          "start": 136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_006724841.2:c.-142C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006724904.1:n.-142C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075739"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 137,
          "referenceAllele": "C",
          "start": 136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_006724842.2:c.-142C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006724905.1:n.-142C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075740"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 510,
          "referenceAllele": "C",
          "start": 509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_011531189.1:c.207C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011529491.1:p.Tyr69="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098229"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 510,
          "referenceAllele": "C",
          "start": 509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XR_938511.1:n.510C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133209"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 347,
          "referenceAllele": "C",
          "start": 346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_006724841.4:c.-142C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006724904.1:n.-142C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541081"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 347,
          "referenceAllele": "C",
          "start": 346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_006724842.4:c.-142C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006724905.1:n.-142C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541082"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 456,
          "referenceAllele": "C",
          "start": 455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_017029761.1:c.153C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016885250.1:p.Tyr51="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579256"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 510,
          "referenceAllele": "C",
          "start": 509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_017029762.1:c.207C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016885251.1:p.Tyr69="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579257"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 456,
          "referenceAllele": "C",
          "start": 455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_017029763.1:c.153C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016885252.1:p.Tyr51="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579258"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 347,
          "referenceAllele": "C",
          "start": 346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_017029765.2:c.-142C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016885254.1:n.-142C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579260"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 510,
          "referenceAllele": "C",
          "start": 509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_024452431.1:c.207C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024308199.1:p.Tyr69="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585924"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063194326",
      "coordinates": [
        {
          "allele": "C",
          "end": 458,
          "referenceAllele": "C",
          "start": 457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_000116.5:c.153C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000107.1:p.Tyr51="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662320",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000601016.6:c.153C="
          },
          "RefSeq": {
            "hgvs": "NM_000116.5:c.153C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000469981.1:p.Tyr51="
          },
          "RefSeq": {
            "hgvs": "NP_000107.1:p.Tyr51="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 512,
          "referenceAllele": "C",
          "start": 511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_001303465.2:c.207C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001290394.1:p.Tyr69="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683598"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 458,
          "referenceAllele": "C",
          "start": 457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_181311.4:c.153C="
      ],
      "proteinEffect": {
        "hgvs": "NP_851828.1:p.Tyr51="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700929"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 458,
          "referenceAllele": "C",
          "start": 457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_181312.4:c.153C="
      ],
      "proteinEffect": {
        "hgvs": "NP_851829.1:p.Tyr51="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700930"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 458,
          "referenceAllele": "C",
          "start": 457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_181313.4:c.153C="
      ],
      "proteinEffect": {
        "hgvs": "NP_851830.1:p.Tyr51="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700931"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 458,
          "referenceAllele": "C",
          "start": 457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NR_024048.3:n.458C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701850"
    }
  ],
  "type": "nucleotide"
}