{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA377159921",
  "communityStandardTitle": [
    "NM_022124.6(CDH23):c.7418T>C (p.Leu2473Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3498120[alleleid]",
        "alleleId": 3498120,
        "preferredName": "NM_022124.6(CDH23):c.7418T>C (p.Leu2473Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3338852",
        "RCV": [
          "RCV004702109"
        ],
        "variationId": 3338852
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.73560448T>C?assembly=hg19",
        "id": "chr10:g.73560448T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.71800691T>C?assembly=hg38",
        "id": "chr10:g.71800691T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1589429497",
        "rs": 1589429497
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 71800691,
          "referenceAllele": "T",
          "start": 71800690
        }
      ],
      "hgvs": [
        "NC_000010.11:g.71800691T>C",
        "CM000672.2:g.71800691T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 73560448,
          "referenceAllele": "T",
          "start": 73560447
        }
      ],
      "hgvs": [
        "NC_000010.10:g.73560448T>C",
        "CM000672.1:g.73560448T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 73230454,
          "referenceAllele": "T",
          "start": 73230453
        }
      ],
      "hgvs": [
        "NC_000010.9:g.73230454T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 408745,
          "referenceAllele": "T",
          "start": 408744
        }
      ],
      "hgvs": [
        "NG_008835.1:g.408745T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001230"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7822,
          "referenceAllele": "T",
          "start": 7821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000224721.12:c.7418T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000224721.9:p.Leu2473Pro",
        "hgvsWellDefined": "ENSP00000224721.9:p.Leu2473Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740637",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000224721.12:c.7418T>C"
          },
          "RefSeq": {
            "hgvs": "NM_022124.6:c.7418T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000224721.9:p.Leu2473Pro"
          },
          "RefSeq": {
            "hgvs": "NP_071407.4:p.Leu2473Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1351,
          "referenceAllele": "T",
          "start": 1350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000642965.1:c.1351T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495222.1:n.1351T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1015,
          "referenceAllele": "T",
          "start": 1014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000647092.1:c.1015T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495176.1:n.1015T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769228"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7823,
          "referenceAllele": "T",
          "start": 7822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000224721.10:c.7433T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000224721.8:p.Leu2478Pro",
        "hgvsWellDefined": "ENSP00000224721.8:p.Leu2478Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248471"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1015,
          "referenceAllele": "T",
          "start": 1014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000398788.4:c.698T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381768.3:p.Leu233Pro",
        "hgvsWellDefined": "ENSP00000381768.3:p.Leu233Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278419"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 954,
          "referenceAllele": "T",
          "start": 953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000475158.1:n.954T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316502"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1015,
          "referenceAllele": "T",
          "start": 1014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000619887.4:c.698T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478374.1:p.Leu233Pro",
        "hgvsWellDefined": "ENSP00000478374.1:p.Leu233Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404567"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7808,
          "referenceAllele": "T",
          "start": 7807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000622827.4:c.7418T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483211.1:p.Leu2473Pro",
        "hgvsWellDefined": "ENSP00000483211.1:p.Leu2473Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405902"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1015,
          "referenceAllele": "T",
          "start": 1014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NM_001171933.1:c.698T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165404.1:p.Leu233Pro",
        "hgvsWellDefined": "NP_001165404.1:p.Leu233Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015394"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1015,
          "referenceAllele": "T",
          "start": 1014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NM_001171934.1:c.698T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165405.1:p.Leu233Pro",
        "hgvsWellDefined": "NP_001165405.1:p.Leu233Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015395"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3057558236",
      "coordinates": [
        {
          "allele": "C",
          "end": 7808,
          "referenceAllele": "T",
          "start": 7807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NM_022124.5:c.7418T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_071407.4:p.Leu2473Pro",
        "hgvsWellDefined": "NP_071407.4:p.Leu2473Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037218"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7856,
          "referenceAllele": "T",
          "start": 7855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_006717940.2:c.7613T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718003.1:p.Leu2538Pro",
        "hgvsWellDefined": "XP_006718003.1:p.Leu2538Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072393"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7790,
          "referenceAllele": "T",
          "start": 7789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_006717942.2:c.7547T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718005.1:p.Leu2516Pro",
        "hgvsWellDefined": "XP_006718005.1:p.Leu2516Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072394"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7853,
          "referenceAllele": "T",
          "start": 7852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540039.1:c.7610T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538341.1:p.Leu2537Pro",
        "hgvsWellDefined": "XP_011538341.1:p.Leu2537Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106989"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7850,
          "referenceAllele": "T",
          "start": 7849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540040.1:c.7607T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538342.1:p.Leu2536Pro",
        "hgvsWellDefined": "XP_011538342.1:p.Leu2536Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106990"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7808,
          "referenceAllele": "T",
          "start": 7807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540041.1:c.7553T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538343.1:p.Leu2518Pro",
        "hgvsWellDefined": "XP_011538343.1:p.Leu2518Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106991"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7766,
          "referenceAllele": "T",
          "start": 7765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540042.1:c.7523T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538344.1:p.Leu2508Pro",
        "hgvsWellDefined": "XP_011538344.1:p.Leu2508Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106992"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7856,
          "referenceAllele": "T",
          "start": 7855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540043.1:c.7613T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538345.1:p.Leu2538Pro",
        "hgvsWellDefined": "XP_011538345.1:p.Leu2538Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106993"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7540,
          "referenceAllele": "T",
          "start": 7539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540044.1:c.7478T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538346.1:p.Leu2493Pro",
        "hgvsWellDefined": "XP_011538346.1:p.Leu2493Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106994"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7856,
          "referenceAllele": "T",
          "start": 7855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540045.1:c.7613T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538347.1:p.Leu2538Pro",
        "hgvsWellDefined": "XP_011538347.1:p.Leu2538Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106995"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7278,
          "referenceAllele": "T",
          "start": 7277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540046.1:c.7073T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538348.1:p.Leu2358Pro",
        "hgvsWellDefined": "XP_011538348.1:p.Leu2358Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106996"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6446,
          "referenceAllele": "T",
          "start": 6445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540047.1:c.6431T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538349.1:p.Leu2144Pro",
        "hgvsWellDefined": "XP_011538349.1:p.Leu2144Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106997"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4079,
          "referenceAllele": "T",
          "start": 4078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540052.1:c.3941T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538354.1:p.Leu1314Pro",
        "hgvsWellDefined": "XP_011538354.1:p.Leu1314Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107002"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3057558236",
      "coordinates": [
        {
          "allele": "C",
          "end": 7822,
          "referenceAllele": "T",
          "start": 7821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NM_022124.6:c.7418T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_071407.4:p.Leu2473Pro",
        "hgvsWellDefined": "NP_071407.4:p.Leu2473Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698509",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000224721.12:c.7418T>C"
          },
          "RefSeq": {
            "hgvs": "NM_022124.6:c.7418T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000224721.9:p.Leu2473Pro"
          },
          "RefSeq": {
            "hgvs": "NP_071407.4:p.Leu2473Pro"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}