{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1854042894",
  "communityStandardTitle": [
    "NM_000144.5(FXN):c.364G= (p.Asp122=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/142157346",
        "rs": 142157346
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 69053240,
          "referenceAllele": "G",
          "start": 69053239
        }
      ],
      "hgvs": [
        "NC_000009.12:g.69053240G=",
        "CM000671.2:g.69053240G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 71668156,
          "referenceAllele": "G",
          "start": 71668155
        }
      ],
      "hgvs": [
        "NC_000009.11:g.71668156G=",
        "CM000671.1:g.71668156G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 70857976,
          "referenceAllele": "G",
          "start": 70857975
        }
      ],
      "hgvs": [
        "NC_000009.10:g.70857976G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22678,
          "referenceAllele": "G",
          "start": 22677
        }
      ],
      "hgvs": [
        "NG_008845.2:g.22678G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001240"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 455,
          "referenceAllele": "G",
          "start": 454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003951",
      "geneNCBI_id": 2395,
      "geneSymbol": "FXN",
      "hgvs": [
        "ENST00000377270.8:c.139G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366482.4:p.Asp47="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751893"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 395,
          "referenceAllele": "G",
          "start": 394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003951",
      "geneNCBI_id": 2395,
      "geneSymbol": "FXN",
      "hgvs": [
        "ENST00000484259.3:c.364G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419243.2:p.Asp122="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757462",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000484259.3:c.364G="
          },
          "RefSeq": {
            "hgvs": "NM_000144.5:c.364G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000419243.2:p.Asp122="
          },
          "RefSeq": {
            "hgvs": "NP_000135.2:p.Asp122="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 400,
          "referenceAllele": "G",
          "start": 399
        }
      ],
      "hgvs": [
        "ENST00000642330.1:c.364G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493770.1:p.Asp122="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766682"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 198,
          "endIntronDirection": "+",
          "endIntronOffset": 17293,
          "referenceAllele": "G",
          "start": 198,
          "startIntronDirection": "+",
          "startIntronOffset": 17292
        }
      ],
      "hgvs": [
        "ENST00000642889.1:c.165+17293G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493780.1:n.165+17293G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766972"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 397,
          "referenceAllele": "G",
          "start": 396
        }
      ],
      "hgvs": [
        "ENST00000643352.1:c.364G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496488.1:p.Asp122="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767235"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 362,
          "referenceAllele": "G",
          "start": 361
        }
      ],
      "hgvs": [
        "ENST00000643765.1:c.362G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767457"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 295,
          "endIntronDirection": "+",
          "endIntronOffset": 6758,
          "referenceAllele": "G",
          "start": 295,
          "startIntronDirection": "+",
          "startIntronOffset": 6757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003951",
      "geneNCBI_id": 2395,
      "geneSymbol": "FXN",
      "hgvs": [
        "ENST00000644653.1:c.263+6758G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495217.1:n.263+6758G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767923"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 268,
          "referenceAllele": "G",
          "start": 267
        }
      ],
      "hgvs": [
        "ENST00000644977.1:c.*89G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495651.1:n.*89G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768103"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 296,
          "endIntronDirection": "+",
          "endIntronOffset": 6758,
          "referenceAllele": "G",
          "start": 296,
          "startIntronDirection": "+",
          "startIntronOffset": 6757
        }
      ],
      "hgvs": [
        "ENST00000645088.1:c.263+6758G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495447.1:n.263+6758G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768165"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 378,
          "referenceAllele": "G",
          "start": 377
        }
      ],
      "hgvs": [
        "ENST00000646862.1:c.364G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494599.1:p.Asp122="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769105"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 888,
          "referenceAllele": "G",
          "start": 887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003951",
      "geneNCBI_id": 2395,
      "geneSymbol": "FXN",
      "hgvs": [
        "ENST00000377270.7:c.364G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366482.3:p.Asp122="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271536"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 584,
          "referenceAllele": "G",
          "start": 583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003951",
      "geneNCBI_id": 2395,
      "geneSymbol": "FXN",
      "hgvs": [
        "ENST00000396364.7:c.364G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379650.3:p.Asp122="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277235"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 385,
          "referenceAllele": "G",
          "start": 384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003951",
      "geneNCBI_id": 2395,
      "geneSymbol": "FXN",
      "hgvs": [
        "ENST00000396366.6:c.364G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379652.2:p.Asp122="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277237"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 76,
          "endIntronDirection": "+",
          "endIntronOffset": 6758,
          "referenceAllele": "G",
          "start": 76,
          "startIntronDirection": "+",
          "startIntronOffset": 6757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003951",
      "geneNCBI_id": 2395,
      "geneSymbol": "FXN",
      "hgvs": [
        "ENST00000484259.1:c.76+6758G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS323549"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 244,
          "referenceAllele": "G",
          "start": 243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003951",
      "geneNCBI_id": 2395,
      "geneSymbol": "FXN",
      "hgvs": [
        "ENST00000498653.5:c.139G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418015.1:p.Asp47="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS334614"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075635435",
      "coordinates": [
        {
          "allele": "G",
          "end": 584,
          "referenceAllele": "G",
          "start": 583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003951",
      "geneNCBI_id": 2395,
      "geneSymbol": "FXN",
      "hgvs": [
        "NM_000144.4:c.364G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000135.2:p.Asp122="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006206"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 584,
          "referenceAllele": "G",
          "start": 583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003951",
      "geneNCBI_id": 2395,
      "geneSymbol": "FXN",
      "hgvs": [
        "NM_001161706.1:c.364G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001155178.1:p.Asp122="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014292"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 584,
          "referenceAllele": "G",
          "start": 583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003951",
      "geneNCBI_id": 2395,
      "geneSymbol": "FXN",
      "hgvs": [
        "NM_181425.2:c.364G="
      ],
      "proteinEffect": {
        "hgvs": "NP_852090.1:p.Asp122="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043699"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075635435",
      "coordinates": [
        {
          "allele": "G",
          "end": 395,
          "referenceAllele": "G",
          "start": 394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003951",
      "geneNCBI_id": 2395,
      "geneSymbol": "FXN",
      "hgvs": [
        "NM_000144.5:c.364G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000135.2:p.Asp122="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662326",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000484259.3:c.364G="
          },
          "RefSeq": {
            "hgvs": "NM_000144.5:c.364G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000419243.2:p.Asp122="
          },
          "RefSeq": {
            "hgvs": "NP_000135.2:p.Asp122="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 395,
          "referenceAllele": "G",
          "start": 394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003951",
      "geneNCBI_id": 2395,
      "geneSymbol": "FXN",
      "hgvs": [
        "NM_181425.3:c.364G="
      ],
      "proteinEffect": {
        "hgvs": "NP_852090.1:p.Asp122="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700941"
    }
  ],
  "type": "nucleotide"
}