{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA345096",
  "communityStandardTitle": [
    "NM_194248.3(OTOF):c.1780G>A (p.Glu594Lys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=76691[alleleid]",
        "alleleId": 76691,
        "preferredName": "NM_194248.3(OTOF):c.1780G>A (p.Glu594Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/65783",
        "RCV": [
          "RCV000056022"
        ],
        "variationId": 65783
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.26703677C>T?assembly=hg19",
        "id": "chr2:g.26703677C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.26480809C>T?assembly=hg38",
        "id": "chr2:g.26480809C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/397515588",
        "rs": 397515588
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-26480809-C-T?dataset=gnomad_r4",
        "id": "2-26480809-C-T",
        "variant": "2:26480809 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 26480809,
          "referenceAllele": "C",
          "start": 26480808
        }
      ],
      "hgvs": [
        "NC_000002.12:g.26480809C>T",
        "CM000664.2:g.26480809C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 26703677,
          "referenceAllele": "C",
          "start": 26703676
        }
      ],
      "hgvs": [
        "NC_000002.11:g.26703677C>T",
        "CM000664.1:g.26703677C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 26557181,
          "referenceAllele": "C",
          "start": 26557180
        }
      ],
      "hgvs": [
        "NC_000002.10:g.26557181C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 82890,
          "referenceAllele": "G",
          "start": 82889
        }
      ],
      "hgvs": [
        "NG_009937.1:g.82890G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001703"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1965,
          "referenceAllele": "G",
          "start": 1964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "ENST00000272371.7:c.1780G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000272371.2:p.Glu594Lys",
        "hgvsWellDefined": "ENSP00000272371.2:p.Glu594Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743242",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000272371.7:c.1780G>A"
          },
          "RefSeq": {
            "hgvs": "NM_194248.3:c.1780G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000272371.2:p.Glu594Lys"
          },
          "RefSeq": {
            "hgvs": "NP_919224.1:p.Glu594Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1907,
          "referenceAllele": "G",
          "start": 1906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "ENST00000272371.6:c.1780G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000272371.2:p.Glu594Lys",
        "hgvsWellDefined": "ENSP00000272371.2:p.Glu594Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252367"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1887,
          "referenceAllele": "G",
          "start": 1886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "ENST00000403946.7:c.1780G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385255.3:p.Glu594Lys",
        "hgvsWellDefined": "ENSP00000385255.3:p.Glu594Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279939"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826696300",
      "coordinates": [
        {
          "allele": "A",
          "end": 1907,
          "referenceAllele": "G",
          "start": 1906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "NM_001287489.1:c.1780G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274418.1:p.Glu594Lys",
        "hgvsWellDefined": "NP_001274418.1:p.Glu594Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023354"
    },
    {
      "@id": "http://reg.genome.network/allele/PA345097",
      "coordinates": [
        {
          "allele": "A",
          "end": 1907,
          "referenceAllele": "G",
          "start": 1906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "NM_194248.2:c.1780G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_919224.1:p.Glu594Lys",
        "hgvsWellDefined": "NP_919224.1:p.Glu594Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044301"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1825,
          "referenceAllele": "G",
          "start": 1824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "XM_005264644.2:c.1825G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264701.1:p.Glu609Lys",
        "hgvsWellDefined": "XP_005264701.1:p.Glu609Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064327"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1825,
          "referenceAllele": "G",
          "start": 1824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "XM_011533185.1:c.1825G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531487.1:p.Glu609Lys",
        "hgvsWellDefined": "XP_011531487.1:p.Glu609Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100210"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1780,
          "referenceAllele": "G",
          "start": 1779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "XM_017005338.1:c.1780G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860827.1:p.Glu594Lys",
        "hgvsWellDefined": "XP_016860827.1:p.Glu594Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560624"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826696300",
      "coordinates": [
        {
          "allele": "A",
          "end": 1965,
          "referenceAllele": "G",
          "start": 1964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "NM_001287489.2:c.1780G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274418.1:p.Glu594Lys",
        "hgvsWellDefined": "NP_001274418.1:p.Glu594Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682405"
    },
    {
      "@id": "http://reg.genome.network/allele/PA345097",
      "coordinates": [
        {
          "allele": "A",
          "end": 1965,
          "referenceAllele": "G",
          "start": 1964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "NM_194248.3:c.1780G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_919224.1:p.Glu594Lys",
        "hgvsWellDefined": "NP_919224.1:p.Glu594Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701195",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000272371.7:c.1780G>A"
          },
          "RefSeq": {
            "hgvs": "NM_194248.3:c.1780G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000272371.2:p.Glu594Lys"
          },
          "RefSeq": {
            "hgvs": "NP_919224.1:p.Glu594Lys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}