{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA137456",
  "communityStandardTitle": [
    "NM_022124.6(CDH23):c.5050C>T (p.Arg1684Cys)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4015616",
        "active": true,
        "id": "COSM4015616"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=55127[alleleid]",
        "alleleId": 55127,
        "preferredName": "NM_022124.6(CDH23):c.5050C>T (p.Arg1684Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/45962",
        "RCV": [
          "RCV000039196",
          "RCV000317490",
          "RCV000372199",
          "RCV000723750",
          "RCV001273552",
          "RCV002513528"
        ],
        "variationId": 45962
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/10-73537641-C-T",
        "id": "10-73537641-C-T",
        "variant": "10:73537641 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.73537641C>T?assembly=hg19",
        "id": "chr10:g.73537641C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.71777884C>T?assembly=hg38",
        "id": "chr10:g.71777884C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/111033522",
        "rs": 111033522
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-73537641-C-T?dataset=gnomad_r2_1",
        "id": "10-73537641-C-T",
        "variant": "10:73537641 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-71777884-C-T?dataset=gnomad_r3",
        "id": "10-71777884-C-T",
        "variant": "10:71777884 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-71777884-C-T?dataset=gnomad_r4",
        "id": "10-71777884-C-T",
        "variant": "10:71777884 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 71777884,
          "referenceAllele": "C",
          "start": 71777883
        }
      ],
      "hgvs": [
        "NC_000010.11:g.71777884C>T",
        "CM000672.2:g.71777884C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 73537641,
          "referenceAllele": "C",
          "start": 73537640
        }
      ],
      "hgvs": [
        "NC_000010.10:g.73537641C>T",
        "CM000672.1:g.73537641C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 73207647,
          "referenceAllele": "C",
          "start": 73207646
        }
      ],
      "hgvs": [
        "NC_000010.9:g.73207647C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 385938,
          "referenceAllele": "C",
          "start": 385937
        }
      ],
      "hgvs": [
        "NG_008835.1:g.385938C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001230"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5454,
          "referenceAllele": "C",
          "start": 5453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000224721.12:c.5050C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000224721.9:p.Arg1684Cys",
        "hgvsWellDefined": "ENSP00000224721.9:p.Arg1684Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740637",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000224721.12:c.5050C>T"
          },
          "RefSeq": {
            "hgvs": "NM_022124.6:c.5050C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000224721.9:p.Arg1684Cys"
          },
          "RefSeq": {
            "hgvs": "NP_071407.4:p.Arg1684Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5455,
          "referenceAllele": "C",
          "start": 5454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000224721.10:c.5065C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000224721.8:p.Arg1689Cys",
        "hgvsWellDefined": "ENSP00000224721.8:p.Arg1689Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248471"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5440,
          "referenceAllele": "C",
          "start": 5439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000622827.4:c.5050C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483211.1:p.Arg1684Cys",
        "hgvsWellDefined": "ENSP00000483211.1:p.Arg1684Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405902"
    },
    {
      "@id": "http://reg.genome.network/allele/PA137457",
      "coordinates": [
        {
          "allele": "T",
          "end": 5440,
          "referenceAllele": "C",
          "start": 5439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NM_022124.5:c.5050C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_071407.4:p.Arg1684Cys",
        "hgvsWellDefined": "NP_071407.4:p.Arg1684Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037218"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5488,
          "referenceAllele": "C",
          "start": 5487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_006717940.2:c.5245C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718003.1:p.Arg1749Cys",
        "hgvsWellDefined": "XP_006718003.1:p.Arg1749Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072393"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5422,
          "referenceAllele": "C",
          "start": 5421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_006717942.2:c.5179C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718005.1:p.Arg1727Cys",
        "hgvsWellDefined": "XP_006718005.1:p.Arg1727Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072394"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5485,
          "referenceAllele": "C",
          "start": 5484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540039.1:c.5242C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538341.1:p.Arg1748Cys",
        "hgvsWellDefined": "XP_011538341.1:p.Arg1748Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106989"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5482,
          "referenceAllele": "C",
          "start": 5481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540040.1:c.5239C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538342.1:p.Arg1747Cys",
        "hgvsWellDefined": "XP_011538342.1:p.Arg1747Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106990"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5440,
          "referenceAllele": "C",
          "start": 5439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540041.1:c.5185C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538343.1:p.Arg1729Cys",
        "hgvsWellDefined": "XP_011538343.1:p.Arg1729Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106991"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5488,
          "referenceAllele": "C",
          "start": 5487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540042.1:c.5245C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538344.1:p.Arg1749Cys",
        "hgvsWellDefined": "XP_011538344.1:p.Arg1749Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106992"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5488,
          "referenceAllele": "C",
          "start": 5487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540043.1:c.5245C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538345.1:p.Arg1749Cys",
        "hgvsWellDefined": "XP_011538345.1:p.Arg1749Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106993"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5172,
          "referenceAllele": "C",
          "start": 5171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540044.1:c.5110C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538346.1:p.Arg1704Cys",
        "hgvsWellDefined": "XP_011538346.1:p.Arg1704Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106994"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5488,
          "referenceAllele": "C",
          "start": 5487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540045.1:c.5245C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538347.1:p.Arg1749Cys",
        "hgvsWellDefined": "XP_011538347.1:p.Arg1749Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106995"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4910,
          "referenceAllele": "C",
          "start": 4909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540046.1:c.4705C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538348.1:p.Arg1569Cys",
        "hgvsWellDefined": "XP_011538348.1:p.Arg1569Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106996"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4078,
          "referenceAllele": "C",
          "start": 4077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540047.1:c.4063C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538349.1:p.Arg1355Cys",
        "hgvsWellDefined": "XP_011538349.1:p.Arg1355Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106997"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5488,
          "referenceAllele": "C",
          "start": 5487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540048.1:c.5245C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538350.1:p.Arg1749Cys",
        "hgvsWellDefined": "XP_011538350.1:p.Arg1749Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106998"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5488,
          "referenceAllele": "C",
          "start": 5487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540049.1:c.5245C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538351.1:p.Arg1749Cys",
        "hgvsWellDefined": "XP_011538351.1:p.Arg1749Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106999"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5488,
          "referenceAllele": "C",
          "start": 5487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540050.1:c.5245C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538352.1:p.Arg1749Cys",
        "hgvsWellDefined": "XP_011538352.1:p.Arg1749Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107000"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5488,
          "referenceAllele": "C",
          "start": 5487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540051.1:c.5245C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538353.1:p.Arg1749Cys",
        "hgvsWellDefined": "XP_011538353.1:p.Arg1749Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1711,
          "referenceAllele": "C",
          "start": 1710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540052.1:c.1573C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538354.1:p.Arg525Cys",
        "hgvsWellDefined": "XP_011538354.1:p.Arg525Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5488,
          "referenceAllele": "C",
          "start": 5487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540053.1:c.5245C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538355.1:p.Arg1749Cys",
        "hgvsWellDefined": "XP_011538355.1:p.Arg1749Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5488,
          "referenceAllele": "C",
          "start": 5487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XR_945796.1:n.5488C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS139429"
    },
    {
      "@id": "http://reg.genome.network/allele/PA137457",
      "coordinates": [
        {
          "allele": "T",
          "end": 5454,
          "referenceAllele": "C",
          "start": 5453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NM_022124.6:c.5050C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_071407.4:p.Arg1684Cys",
        "hgvsWellDefined": "NP_071407.4:p.Arg1684Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698509",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000224721.12:c.5050C>T"
          },
          "RefSeq": {
            "hgvs": "NM_022124.6:c.5050C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000224721.9:p.Arg1684Cys"
          },
          "RefSeq": {
            "hgvs": "NP_071407.4:p.Arg1684Cys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}