{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA344698",
  "communityStandardTitle": [
    "NM_194248.3(OTOF):c.4718T>C (p.Ile1573Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=57404[alleleid]",
        "alleleId": 57404,
        "preferredName": "NM_194248.3(OTOF):c.4718T>C (p.Ile1573Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/48240",
        "RCV": [
          "RCV000041550",
          "RCV000211733",
          "RCV001778685",
          "RCV001730485",
          "RCV003556117"
        ],
        "variationId": 48240
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-26688621-A-G",
        "id": "2-26688621-A-G",
        "variant": "2:26688621 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.26688621A>G?assembly=hg19",
        "id": "chr2:g.26688621A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.26465753A>G?assembly=hg38",
        "id": "chr2:g.26465753A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/111033405",
        "rs": 111033405
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-26688621-A-G?dataset=gnomad_r2_1",
        "id": "2-26688621-A-G",
        "variant": "2:26688621 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-26465753-A-G?dataset=gnomad_r3",
        "id": "2-26465753-A-G",
        "variant": "2:26465753 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-26465753-A-G?dataset=gnomad_r4",
        "id": "2-26465753-A-G",
        "variant": "2:26465753 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 26465753,
          "referenceAllele": "A",
          "start": 26465752
        }
      ],
      "hgvs": [
        "NC_000002.12:g.26465753A>G",
        "CM000664.2:g.26465753A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 26688621,
          "referenceAllele": "A",
          "start": 26688620
        }
      ],
      "hgvs": [
        "NC_000002.11:g.26688621A>G",
        "CM000664.1:g.26688621A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 26542125,
          "referenceAllele": "A",
          "start": 26542124
        }
      ],
      "hgvs": [
        "NC_000002.10:g.26542125A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 97946,
          "referenceAllele": "T",
          "start": 97945
        }
      ],
      "hgvs": [
        "NG_009937.1:g.97946T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001703"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4903,
          "referenceAllele": "T",
          "start": 4902
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "ENST00000272371.7:c.4718T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000272371.2:p.Ile1573Thr",
        "hgvsWellDefined": "ENSP00000272371.2:p.Ile1573Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743242",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000272371.7:c.4718T>C"
          },
          "RefSeq": {
            "hgvs": "NM_194248.3:c.4718T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000272371.2:p.Ile1573Thr"
          },
          "RefSeq": {
            "hgvs": "NP_919224.1:p.Ile1573Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2725,
          "referenceAllele": "T",
          "start": 2724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "ENST00000339598.8:c.2417T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344521.3:p.Ile806Thr",
        "hgvsWellDefined": "ENSP00000344521.3:p.Ile806Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747833",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000339598.8:c.2417T>C"
          },
          "RefSeq": {
            "hgvs": "NM_194323.3:c.2417T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344521.3:p.Ile806Thr"
          },
          "RefSeq": {
            "hgvs": "NP_919304.1:p.Ile806Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2797,
          "referenceAllele": "T",
          "start": 2796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "ENST00000402415.8:c.2477T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383906.4:p.Ile826Thr",
        "hgvsWellDefined": "ENSP00000383906.4:p.Ile826Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754006"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4845,
          "referenceAllele": "T",
          "start": 4844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "ENST00000272371.6:c.4718T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000272371.2:p.Ile1573Thr",
        "hgvsWellDefined": "ENSP00000272371.2:p.Ile1573Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252367"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2643,
          "referenceAllele": "T",
          "start": 2642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "ENST00000338581.10:c.2417T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345137.6:p.Ile806Thr",
        "hgvsWellDefined": "ENSP00000345137.6:p.Ile806Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260687"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2643,
          "referenceAllele": "T",
          "start": 2642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "ENST00000339598.7:c.2417T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344521.3:p.Ile806Thr",
        "hgvsWellDefined": "ENSP00000344521.3:p.Ile806Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260908"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2797,
          "referenceAllele": "T",
          "start": 2796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "ENST00000402415.7:c.2648T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383906.3:p.Ile883Thr",
        "hgvsWellDefined": "ENSP00000383906.3:p.Ile883Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279510"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4825,
          "referenceAllele": "T",
          "start": 4824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "ENST00000403946.7:c.4718T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385255.3:p.Ile1573Thr",
        "hgvsWellDefined": "ENSP00000385255.3:p.Ile1573Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279939"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 467,
          "referenceAllele": "T",
          "start": 466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "ENST00000464574.1:n.467T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308372"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826697312",
      "coordinates": [
        {
          "allele": "C",
          "end": 4845,
          "referenceAllele": "T",
          "start": 4844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "NM_001287489.1:c.4718T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274418.1:p.Ile1573Thr",
        "hgvsWellDefined": "NP_001274418.1:p.Ile1573Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023354"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829570681",
      "coordinates": [
        {
          "allele": "C",
          "end": 2643,
          "referenceAllele": "T",
          "start": 2642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "NM_004802.3:c.2417T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004793.2:p.Ile806Thr",
        "hgvsWellDefined": "NP_004793.2:p.Ile806Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029949"
    },
    {
      "@id": "http://reg.genome.network/allele/PA344699",
      "coordinates": [
        {
          "allele": "C",
          "end": 4845,
          "referenceAllele": "T",
          "start": 4844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "NM_194248.2:c.4718T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_919224.1:p.Ile1573Thr",
        "hgvsWellDefined": "NP_919224.1:p.Ile1573Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044301"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916054280",
      "coordinates": [
        {
          "allele": "C",
          "end": 2797,
          "referenceAllele": "T",
          "start": 2796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "NM_194322.2:c.2648T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_919303.1:p.Ile883Thr",
        "hgvsWellDefined": "NP_919303.1:p.Ile883Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044339"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830424791",
      "coordinates": [
        {
          "allele": "C",
          "end": 2643,
          "referenceAllele": "T",
          "start": 2642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "NM_194323.2:c.2417T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_919304.1:p.Ile806Thr",
        "hgvsWellDefined": "NP_919304.1:p.Ile806Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044340"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4703,
          "referenceAllele": "T",
          "start": 4702
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "XM_005264644.2:c.4703T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264701.1:p.Ile1568Thr",
        "hgvsWellDefined": "XP_005264701.1:p.Ile1568Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064327"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4763,
          "referenceAllele": "T",
          "start": 4762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "XM_011533185.1:c.4763T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531487.1:p.Ile1588Thr",
        "hgvsWellDefined": "XP_011531487.1:p.Ile1588Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100210"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4658,
          "referenceAllele": "T",
          "start": 4657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "XM_017005338.1:c.4658T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860827.1:p.Ile1553Thr",
        "hgvsWellDefined": "XP_016860827.1:p.Ile1553Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560624"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826697312",
      "coordinates": [
        {
          "allele": "C",
          "end": 4903,
          "referenceAllele": "T",
          "start": 4902
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "NM_001287489.2:c.4718T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274418.1:p.Ile1573Thr",
        "hgvsWellDefined": "NP_001274418.1:p.Ile1573Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682405"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829570681",
      "coordinates": [
        {
          "allele": "C",
          "end": 2725,
          "referenceAllele": "T",
          "start": 2724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "NM_004802.4:c.2417T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004793.2:p.Ile806Thr",
        "hgvsWellDefined": "NP_004793.2:p.Ile806Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696245"
    },
    {
      "@id": "http://reg.genome.network/allele/PA344699",
      "coordinates": [
        {
          "allele": "C",
          "end": 4903,
          "referenceAllele": "T",
          "start": 4902
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "NM_194248.3:c.4718T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_919224.1:p.Ile1573Thr",
        "hgvsWellDefined": "NP_919224.1:p.Ile1573Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701195",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000272371.7:c.4718T>C"
          },
          "RefSeq": {
            "hgvs": "NM_194248.3:c.4718T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000272371.2:p.Ile1573Thr"
          },
          "RefSeq": {
            "hgvs": "NP_919224.1:p.Ile1573Thr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916054280",
      "coordinates": [
        {
          "allele": "C",
          "end": 2879,
          "referenceAllele": "T",
          "start": 2878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "NM_194322.3:c.2648T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_919303.1:p.Ile883Thr",
        "hgvsWellDefined": "NP_919303.1:p.Ile883Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701212"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830424791",
      "coordinates": [
        {
          "allele": "C",
          "end": 2725,
          "referenceAllele": "T",
          "start": 2724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "NM_194323.3:c.2417T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_919304.1:p.Ile806Thr",
        "hgvsWellDefined": "NP_919304.1:p.Ile806Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701213",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000339598.8:c.2417T>C"
          },
          "RefSeq": {
            "hgvs": "NM_194323.3:c.2417T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344521.3:p.Ile806Thr"
          },
          "RefSeq": {
            "hgvs": "NP_919304.1:p.Ile806Thr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}