{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1239827775",
  "communityStandardTitle": [
    "NM_194248.3(OTOF):c.1718T= (p.Leu573=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/397515586",
        "rs": 397515586
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 26480871,
          "referenceAllele": "A",
          "start": 26480870
        }
      ],
      "hgvs": [
        "NC_000002.12:g.26480871A=",
        "CM000664.2:g.26480871A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 26703739,
          "referenceAllele": "A",
          "start": 26703738
        }
      ],
      "hgvs": [
        "NC_000002.11:g.26703739A=",
        "CM000664.1:g.26703739A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 26557243,
          "referenceAllele": "A",
          "start": 26557242
        }
      ],
      "hgvs": [
        "NC_000002.10:g.26557243A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 82828,
          "referenceAllele": "T",
          "start": 82827
        }
      ],
      "hgvs": [
        "NG_009937.1:g.82828T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001703"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1903,
          "referenceAllele": "T",
          "start": 1902
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "ENST00000272371.7:c.1718T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000272371.2:p.Leu573="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743242",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000272371.7:c.1718T="
          },
          "RefSeq": {
            "hgvs": "NM_194248.3:c.1718T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000272371.2:p.Leu573="
          },
          "RefSeq": {
            "hgvs": "NP_919224.1:p.Leu573="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1845,
          "referenceAllele": "T",
          "start": 1844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "ENST00000272371.6:c.1718T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000272371.2:p.Leu573="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252367"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1825,
          "referenceAllele": "T",
          "start": 1824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "ENST00000403946.7:c.1718T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385255.3:p.Leu573="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279939"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1845,
          "referenceAllele": "T",
          "start": 1844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "NM_001287489.1:c.1718T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001274418.1:p.Leu573="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023354"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066671673",
      "coordinates": [
        {
          "allele": "T",
          "end": 1845,
          "referenceAllele": "T",
          "start": 1844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "NM_194248.2:c.1718T="
      ],
      "proteinEffect": {
        "hgvs": "NP_919224.1:p.Leu573="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044301"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1763,
          "referenceAllele": "T",
          "start": 1762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "XM_005264644.2:c.1763T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005264701.1:p.Leu588="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064327"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1763,
          "referenceAllele": "T",
          "start": 1762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "XM_011533185.1:c.1763T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531487.1:p.Leu588="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100210"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1718,
          "referenceAllele": "T",
          "start": 1717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "XM_017005338.1:c.1718T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016860827.1:p.Leu573="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560624"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1903,
          "referenceAllele": "T",
          "start": 1902
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "NM_001287489.2:c.1718T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001274418.1:p.Leu573="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682405"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066671673",
      "coordinates": [
        {
          "allele": "T",
          "end": 1903,
          "referenceAllele": "T",
          "start": 1902
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "NM_194248.3:c.1718T="
      ],
      "proteinEffect": {
        "hgvs": "NP_919224.1:p.Leu573="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701195",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000272371.7:c.1718T="
          },
          "RefSeq": {
            "hgvs": "NM_194248.3:c.1718T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000272371.2:p.Leu573="
          },
          "RefSeq": {
            "hgvs": "NP_919224.1:p.Leu573="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}