{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1239824686",
  "communityStandardTitle": [
    "NM_194248.3(OTOF):c.3400C= (p.Arg1134=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/199848801",
        "rs": 199848801
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 26473999,
          "referenceAllele": "G",
          "start": 26473998
        }
      ],
      "hgvs": [
        "NC_000002.12:g.26473999G=",
        "CM000664.2:g.26473999G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 26696867,
          "referenceAllele": "G",
          "start": 26696866
        }
      ],
      "hgvs": [
        "NC_000002.11:g.26696867G=",
        "CM000664.1:g.26696867G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 26550371,
          "referenceAllele": "G",
          "start": 26550370
        }
      ],
      "hgvs": [
        "NC_000002.10:g.26550371G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 89700,
          "referenceAllele": "C",
          "start": 89699
        }
      ],
      "hgvs": [
        "NG_009937.1:g.89700C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001703"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3585,
          "referenceAllele": "C",
          "start": 3584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "ENST00000272371.7:c.3400C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000272371.2:p.Arg1134="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743242",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000272371.7:c.3400C="
          },
          "RefSeq": {
            "hgvs": "NM_194248.3:c.3400C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000272371.2:p.Arg1134="
          },
          "RefSeq": {
            "hgvs": "NP_919224.1:p.Arg1134="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1467,
          "referenceAllele": "C",
          "start": 1466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "ENST00000339598.8:c.1159C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344521.3:p.Arg387="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747833",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000339598.8:c.1159C="
          },
          "RefSeq": {
            "hgvs": "NM_194323.3:c.1159C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344521.3:p.Arg387="
          },
          "RefSeq": {
            "hgvs": "NP_919304.1:p.Arg387="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1479,
          "referenceAllele": "C",
          "start": 1478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "ENST00000402415.8:c.1159C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383906.4:p.Arg387="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754006"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3527,
          "referenceAllele": "C",
          "start": 3526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "ENST00000272371.6:c.3400C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000272371.2:p.Arg1134="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252367"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1385,
          "referenceAllele": "C",
          "start": 1384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "ENST00000338581.10:c.1159C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345137.6:p.Arg387="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260687"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1385,
          "referenceAllele": "C",
          "start": 1384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "ENST00000339598.7:c.1159C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344521.3:p.Arg387="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260908"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1479,
          "referenceAllele": "C",
          "start": 1478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "ENST00000402415.7:c.1330C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383906.3:p.Arg444="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279510"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3507,
          "referenceAllele": "C",
          "start": 3506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "ENST00000403946.7:c.3400C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385255.3:p.Arg1134="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279939"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826696943",
      "coordinates": [
        {
          "allele": "C",
          "end": 3527,
          "referenceAllele": "C",
          "start": 3526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "NM_001287489.1:c.3400C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001274418.1:p.Arg1134="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023354"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829570258",
      "coordinates": [
        {
          "allele": "C",
          "end": 1385,
          "referenceAllele": "C",
          "start": 1384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "NM_004802.3:c.1159C="
      ],
      "proteinEffect": {
        "hgvs": "NP_004793.2:p.Arg387="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029949"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830421329",
      "coordinates": [
        {
          "allele": "C",
          "end": 3527,
          "referenceAllele": "C",
          "start": 3526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "NM_194248.2:c.3400C="
      ],
      "proteinEffect": {
        "hgvs": "NP_919224.1:p.Arg1134="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044301"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830423981",
      "coordinates": [
        {
          "allele": "C",
          "end": 1479,
          "referenceAllele": "C",
          "start": 1478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "NM_194322.2:c.1330C="
      ],
      "proteinEffect": {
        "hgvs": "NP_919303.1:p.Arg444="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044339"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830424576",
      "coordinates": [
        {
          "allele": "C",
          "end": 1385,
          "referenceAllele": "C",
          "start": 1384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "NM_194323.2:c.1159C="
      ],
      "proteinEffect": {
        "hgvs": "NP_919304.1:p.Arg387="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044340"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3445,
          "referenceAllele": "C",
          "start": 3444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "XM_005264644.2:c.3445C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005264701.1:p.Arg1149="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064327"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3445,
          "referenceAllele": "C",
          "start": 3444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "XM_011533185.1:c.3445C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531487.1:p.Arg1149="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100210"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3400,
          "referenceAllele": "C",
          "start": 3399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "XM_017005338.1:c.3400C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016860827.1:p.Arg1134="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560624"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826696943",
      "coordinates": [
        {
          "allele": "C",
          "end": 3585,
          "referenceAllele": "C",
          "start": 3584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "NM_001287489.2:c.3400C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001274418.1:p.Arg1134="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682405"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829570258",
      "coordinates": [
        {
          "allele": "C",
          "end": 1467,
          "referenceAllele": "C",
          "start": 1466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "NM_004802.4:c.1159C="
      ],
      "proteinEffect": {
        "hgvs": "NP_004793.2:p.Arg387="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696245"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830421329",
      "coordinates": [
        {
          "allele": "C",
          "end": 3585,
          "referenceAllele": "C",
          "start": 3584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "NM_194248.3:c.3400C="
      ],
      "proteinEffect": {
        "hgvs": "NP_919224.1:p.Arg1134="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701195",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000272371.7:c.3400C="
          },
          "RefSeq": {
            "hgvs": "NM_194248.3:c.3400C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000272371.2:p.Arg1134="
          },
          "RefSeq": {
            "hgvs": "NP_919224.1:p.Arg1134="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830423981",
      "coordinates": [
        {
          "allele": "C",
          "end": 1561,
          "referenceAllele": "C",
          "start": 1560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "NM_194322.3:c.1330C="
      ],
      "proteinEffect": {
        "hgvs": "NP_919303.1:p.Arg444="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701212"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830424576",
      "coordinates": [
        {
          "allele": "C",
          "end": 1467,
          "referenceAllele": "C",
          "start": 1466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "NM_194323.3:c.1159C="
      ],
      "proteinEffect": {
        "hgvs": "NP_919304.1:p.Arg387="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701213",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000339598.8:c.1159C="
          },
          "RefSeq": {
            "hgvs": "NM_194323.3:c.1159C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344521.3:p.Arg387="
          },
          "RefSeq": {
            "hgvs": "NP_919304.1:p.Arg387="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}