{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA385888920",
  "communityStandardTitle": [
    "NM_001378609.3(OTOGL):c.6235T>C (p.Cys2079Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2408465[alleleid]",
        "alleleId": 2408465,
        "preferredName": "NM_001378609.3(OTOGL):c.6235T>C (p.Cys2079Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2434528",
        "RCV": [
          "RCV003134716"
        ],
        "variationId": 2434528
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.80752648T>C?assembly=hg19",
        "id": "chr12:g.80752648T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.80358868T>C?assembly=hg38",
        "id": "chr12:g.80358868T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2541413910",
        "rs": 2541413910
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-80358868-T-C?dataset=gnomad_r4",
        "id": "12-80358868-T-C",
        "variant": "12:80358868 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 80358868,
          "referenceAllele": "T",
          "start": 80358867
        }
      ],
      "hgvs": [
        "NC_000012.12:g.80358868T>C",
        "CM000674.2:g.80358868T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 80752648,
          "referenceAllele": "T",
          "start": 80752647
        }
      ],
      "hgvs": [
        "NC_000012.11:g.80752648T>C",
        "CM000674.1:g.80752648T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 79276779,
          "referenceAllele": "T",
          "start": 79276778
        }
      ],
      "hgvs": [
        "NC_000012.10:g.79276779T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 154416,
          "referenceAllele": "T",
          "start": 154415
        }
      ],
      "hgvs": [
        "NG_033008.1:g.154416T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005346"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6323,
          "referenceAllele": "T",
          "start": 6322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026901",
      "geneNCBI_id": 283310,
      "geneSymbol": "OTOGL",
      "hgvs": [
        "ENST00000547103.7:c.6235T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447211.2:p.Cys2079Arg",
        "hgvsWellDefined": "ENSP00000447211.2:p.Cys2079Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759865",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000547103.7:c.6235T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001378609.3:c.6235T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000447211.2:p.Cys2079Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001365538.2:p.Cys2079Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 175,
          "referenceAllele": "T",
          "start": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026901",
      "geneNCBI_id": 283310,
      "geneSymbol": "OTOGL",
      "hgvs": [
        "ENST00000642294.1:c.175T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493572.1:p.Cys59Arg",
        "hgvsWellDefined": "ENSP00000493572.1:p.Cys59Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766665"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7200,
          "referenceAllele": "T",
          "start": 7199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026901",
      "geneNCBI_id": 283310,
      "geneSymbol": "OTOGL",
      "hgvs": [
        "ENST00000646859.1:c.6100T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496036.1:p.Cys2034Arg",
        "hgvsWellDefined": "ENSP00000496036.1:p.Cys2034Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769103"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1527,
          "endIntronDirection": "+",
          "endIntronOffset": 93,
          "referenceAllele": "T",
          "start": 1527,
          "startIntronDirection": "+",
          "startIntronOffset": 92
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026901",
      "geneNCBI_id": 283310,
      "geneSymbol": "OTOGL",
      "hgvs": [
        "ENST00000298820.7:c.1527+93T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS254635"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6214,
          "referenceAllele": "T",
          "start": 6213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026901",
      "geneNCBI_id": 283310,
      "geneSymbol": "OTOGL",
      "hgvs": [
        "ENST00000458043.6:c.6208T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400895.2:p.Cys2070Arg",
        "hgvsWellDefined": "ENSP00000400895.2:p.Cys2070Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304226"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 491,
          "referenceAllele": "T",
          "start": 490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026901",
      "geneNCBI_id": 283310,
      "geneSymbol": "OTOGL",
      "hgvs": [
        "ENST00000546620.5:n.491T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS365753"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6178,
          "referenceAllele": "T",
          "start": 6177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026901",
      "geneNCBI_id": 283310,
      "geneSymbol": "OTOGL",
      "hgvs": [
        "ENST00000547103.5:c.6172T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447211.1:p.Cys2058Arg",
        "hgvsWellDefined": "ENSP00000447211.1:p.Cys2058Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS366067"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 259,
          "referenceAllele": "T",
          "start": 258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026901",
      "geneNCBI_id": 283310,
      "geneSymbol": "OTOGL",
      "hgvs": [
        "ENST00000550182.2:c.259T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449641.1:p.Cys87Arg",
        "hgvsWellDefined": "ENSP00000449641.1:p.Cys87Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS367900"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 363,
          "referenceAllele": "T",
          "start": 362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026901",
      "geneNCBI_id": 283310,
      "geneSymbol": "OTOGL",
      "hgvs": [
        "ENST00000551340.5:c.363T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS368610"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6214,
          "referenceAllele": "T",
          "start": 6213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026901",
      "geneNCBI_id": 283310,
      "geneSymbol": "OTOGL",
      "hgvs": [
        "NM_173591.3:c.6208T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_775862.3:p.Cys2070Arg",
        "hgvsWellDefined": "NP_775862.3:p.Cys2070Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042937"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6890,
          "referenceAllele": "T",
          "start": 6889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026901",
      "geneNCBI_id": 283310,
      "geneSymbol": "OTOGL",
      "hgvs": [
        "XM_005268802.2:c.6259T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268859.1:p.Cys2087Arg",
        "hgvsWellDefined": "XP_005268859.1:p.Cys2087Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065880"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6291,
          "referenceAllele": "T",
          "start": 6290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026901",
      "geneNCBI_id": 283310,
      "geneSymbol": "OTOGL",
      "hgvs": [
        "XM_011538191.1:c.6259T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536493.1:p.Cys2087Arg",
        "hgvsWellDefined": "XP_011536493.1:p.Cys2087Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105148"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6150,
          "referenceAllele": "T",
          "start": 6149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026901",
      "geneNCBI_id": 283310,
      "geneSymbol": "OTOGL",
      "hgvs": [
        "XM_011538192.1:c.6106T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536494.1:p.Cys2036Arg",
        "hgvsWellDefined": "XP_011536494.1:p.Cys2036Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105149"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6151,
          "referenceAllele": "T",
          "start": 6150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026901",
      "geneNCBI_id": 283310,
      "geneSymbol": "OTOGL",
      "hgvs": [
        "XM_011538193.1:c.5893T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536495.1:p.Cys1965Arg",
        "hgvsWellDefined": "XP_011536495.1:p.Cys1965Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105150"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7015,
          "referenceAllele": "T",
          "start": 7014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026901",
      "geneNCBI_id": 283310,
      "geneSymbol": "OTOGL",
      "hgvs": [
        "XM_005268802.3:c.6259T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268859.1:p.Cys2087Arg",
        "hgvsWellDefined": "XP_005268859.1:p.Cys2087Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536652"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6232,
          "referenceAllele": "T",
          "start": 6231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026901",
      "geneNCBI_id": 283310,
      "geneSymbol": "OTOGL",
      "hgvs": [
        "XM_011538192.2:c.6106T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536494.1:p.Cys2036Arg",
        "hgvsWellDefined": "XP_011536494.1:p.Cys2036Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553183"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7200,
          "referenceAllele": "T",
          "start": 7199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026901",
      "geneNCBI_id": 283310,
      "geneSymbol": "OTOGL",
      "hgvs": [
        "NM_001368062.1:c.6073T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001354991.1:p.Cys2025Arg",
        "hgvsWellDefined": "NP_001354991.1:p.Cys2025Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691331"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828280138",
      "coordinates": [
        {
          "allele": "C",
          "end": 7200,
          "referenceAllele": "T",
          "start": 7199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026901",
      "geneNCBI_id": 283310,
      "geneSymbol": "OTOGL",
      "hgvs": [
        "NM_001368062.3:c.6100T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001354991.2:p.Cys2034Arg",
        "hgvsWellDefined": "NP_001354991.2:p.Cys2034Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721076"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828794275",
      "coordinates": [
        {
          "allele": "C",
          "end": 6323,
          "referenceAllele": "T",
          "start": 6322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026901",
      "geneNCBI_id": 283310,
      "geneSymbol": "OTOGL",
      "hgvs": [
        "NM_001378609.3:c.6235T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365538.2:p.Cys2079Arg",
        "hgvsWellDefined": "NP_001365538.2:p.Cys2079Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721803",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000547103.7:c.6235T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001378609.3:c.6235T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000447211.2:p.Cys2079Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001365538.2:p.Cys2079Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828795216",
      "coordinates": [
        {
          "allele": "C",
          "end": 6895,
          "referenceAllele": "T",
          "start": 6894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026901",
      "geneNCBI_id": 283310,
      "geneSymbol": "OTOGL",
      "hgvs": [
        "NM_001378610.3:c.6235T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365539.2:p.Cys2079Arg",
        "hgvsWellDefined": "NP_001365539.2:p.Cys2079Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721804"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580539106",
      "coordinates": [
        {
          "allele": "C",
          "end": 6313,
          "referenceAllele": "T",
          "start": 6312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026901",
      "geneNCBI_id": 283310,
      "geneSymbol": "OTOGL",
      "hgvs": [
        "NM_173591.7:c.6235T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_775862.4:p.Cys2079Arg",
        "hgvsWellDefined": "NP_775862.4:p.Cys2079Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729589"
    }
  ],
  "type": "nucleotide"
}