{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA137554",
  "communityStandardTitle": [
    "NM_022124.6(CDH23):c.6911G>A (p.Arg2304Gln)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=920159",
        "active": true,
        "id": "COSM920159"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=55186[alleleid]",
        "alleleId": 55186,
        "preferredName": "NM_022124.6(CDH23):c.6911G>A (p.Arg2304Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/46021",
        "RCV": [
          "RCV000039257",
          "RCV000260501",
          "RCV000353028",
          "RCV000764921",
          "RCV001244627",
          "RCV001275584",
          "RCV004528196"
        ],
        "variationId": 46021
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/10-73558192-G-A",
        "id": "10-73558192-G-A",
        "variant": "10:73558192 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.73558192G>A?assembly=hg19",
        "id": "chr10:g.73558192G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.71798435G>A?assembly=hg38",
        "id": "chr10:g.71798435G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/201434373",
        "rs": 201434373
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-73558192-G-A?dataset=gnomad_r2_1",
        "id": "10-73558192-G-A",
        "variant": "10:73558192 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-71798435-G-A?dataset=gnomad_r3",
        "id": "10-71798435-G-A",
        "variant": "10:71798435 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-71798435-G-A?dataset=gnomad_r4",
        "id": "10-71798435-G-A",
        "variant": "10:71798435 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 71798435,
          "referenceAllele": "G",
          "start": 71798434
        }
      ],
      "hgvs": [
        "NC_000010.11:g.71798435G>A",
        "CM000672.2:g.71798435G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 73558192,
          "referenceAllele": "G",
          "start": 73558191
        }
      ],
      "hgvs": [
        "NC_000010.10:g.73558192G>A",
        "CM000672.1:g.73558192G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 73228198,
          "referenceAllele": "G",
          "start": 73228197
        }
      ],
      "hgvs": [
        "NC_000010.9:g.73228198G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 406489,
          "referenceAllele": "G",
          "start": 406488
        }
      ],
      "hgvs": [
        "NG_008835.1:g.406489G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001230"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7315,
          "referenceAllele": "G",
          "start": 7314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000224721.12:c.6911G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000224721.9:p.Arg2304Gln",
        "hgvsWellDefined": "ENSP00000224721.9:p.Arg2304Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740637",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000224721.12:c.6911G>A"
          },
          "RefSeq": {
            "hgvs": "NM_022124.6:c.6911G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000224721.9:p.Arg2304Gln"
          },
          "RefSeq": {
            "hgvs": "NP_071407.4:p.Arg2304Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 844,
          "referenceAllele": "G",
          "start": 843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000642965.1:c.844G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495222.1:n.844G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767016"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 508,
          "referenceAllele": "G",
          "start": 507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000647092.1:c.508G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495176.1:n.508G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769228"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7316,
          "referenceAllele": "G",
          "start": 7315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000224721.10:c.6926G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000224721.8:p.Arg2309Gln",
        "hgvsWellDefined": "ENSP00000224721.8:p.Arg2309Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248471"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 508,
          "referenceAllele": "G",
          "start": 507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000398788.4:c.191G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381768.3:p.Arg64Gln",
        "hgvsWellDefined": "ENSP00000381768.3:p.Arg64Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278419"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 447,
          "referenceAllele": "G",
          "start": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000475158.1:n.447G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316502"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 508,
          "referenceAllele": "G",
          "start": 507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000619887.4:c.191G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478374.1:p.Arg64Gln",
        "hgvsWellDefined": "ENSP00000478374.1:p.Arg64Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404567"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7301,
          "referenceAllele": "G",
          "start": 7300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000622827.4:c.6911G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483211.1:p.Arg2304Gln",
        "hgvsWellDefined": "ENSP00000483211.1:p.Arg2304Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405902"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826096348",
      "coordinates": [
        {
          "allele": "A",
          "end": 508,
          "referenceAllele": "G",
          "start": 507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NM_001171933.1:c.191G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165404.1:p.Arg64Gln",
        "hgvsWellDefined": "NP_001165404.1:p.Arg64Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015394"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915991931",
      "coordinates": [
        {
          "allele": "A",
          "end": 508,
          "referenceAllele": "G",
          "start": 507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NM_001171934.1:c.191G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165405.1:p.Arg64Gln",
        "hgvsWellDefined": "NP_001165405.1:p.Arg64Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015395"
    },
    {
      "@id": "http://reg.genome.network/allele/PA137555",
      "coordinates": [
        {
          "allele": "A",
          "end": 7301,
          "referenceAllele": "G",
          "start": 7300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NM_022124.5:c.6911G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_071407.4:p.Arg2304Gln",
        "hgvsWellDefined": "NP_071407.4:p.Arg2304Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037218"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7349,
          "referenceAllele": "G",
          "start": 7348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_006717940.2:c.7106G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718003.1:p.Arg2369Gln",
        "hgvsWellDefined": "XP_006718003.1:p.Arg2369Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072393"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7283,
          "referenceAllele": "G",
          "start": 7282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_006717942.2:c.7040G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718005.1:p.Arg2347Gln",
        "hgvsWellDefined": "XP_006718005.1:p.Arg2347Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072394"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7346,
          "referenceAllele": "G",
          "start": 7345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540039.1:c.7103G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538341.1:p.Arg2368Gln",
        "hgvsWellDefined": "XP_011538341.1:p.Arg2368Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106989"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7343,
          "referenceAllele": "G",
          "start": 7342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540040.1:c.7100G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538342.1:p.Arg2367Gln",
        "hgvsWellDefined": "XP_011538342.1:p.Arg2367Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106990"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7301,
          "referenceAllele": "G",
          "start": 7300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540041.1:c.7046G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538343.1:p.Arg2349Gln",
        "hgvsWellDefined": "XP_011538343.1:p.Arg2349Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106991"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7259,
          "referenceAllele": "G",
          "start": 7258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540042.1:c.7016G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538344.1:p.Arg2339Gln",
        "hgvsWellDefined": "XP_011538344.1:p.Arg2339Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106992"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7349,
          "referenceAllele": "G",
          "start": 7348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540043.1:c.7106G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538345.1:p.Arg2369Gln",
        "hgvsWellDefined": "XP_011538345.1:p.Arg2369Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106993"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7033,
          "referenceAllele": "G",
          "start": 7032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540044.1:c.6971G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538346.1:p.Arg2324Gln",
        "hgvsWellDefined": "XP_011538346.1:p.Arg2324Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106994"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7349,
          "referenceAllele": "G",
          "start": 7348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540045.1:c.7106G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538347.1:p.Arg2369Gln",
        "hgvsWellDefined": "XP_011538347.1:p.Arg2369Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106995"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6771,
          "referenceAllele": "G",
          "start": 6770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540046.1:c.6566G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538348.1:p.Arg2189Gln",
        "hgvsWellDefined": "XP_011538348.1:p.Arg2189Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106996"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5939,
          "referenceAllele": "G",
          "start": 5938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540047.1:c.5924G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538349.1:p.Arg1975Gln",
        "hgvsWellDefined": "XP_011538349.1:p.Arg1975Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106997"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3572,
          "referenceAllele": "G",
          "start": 3571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540052.1:c.3434G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538354.1:p.Arg1145Gln",
        "hgvsWellDefined": "XP_011538354.1:p.Arg1145Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107002"
    },
    {
      "@id": "http://reg.genome.network/allele/PA137555",
      "coordinates": [
        {
          "allele": "A",
          "end": 7315,
          "referenceAllele": "G",
          "start": 7314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NM_022124.6:c.6911G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_071407.4:p.Arg2304Gln",
        "hgvsWellDefined": "NP_071407.4:p.Arg2304Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698509",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000224721.12:c.6911G>A"
          },
          "RefSeq": {
            "hgvs": "NM_022124.6:c.6911G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000224721.9:p.Arg2304Gln"
          },
          "RefSeq": {
            "hgvs": "NP_071407.4:p.Arg2304Gln"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}