{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA184009",
  "communityStandardTitle": [
    "NM_022124.6(CDH23):c.9078G>C (p.Arg3026=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=175282[alleleid]",
        "alleleId": 175282,
        "preferredName": "NM_022124.6(CDH23):c.9078G>C (p.Arg3026=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/179230",
        "RCV": [
          "RCV000156017",
          "RCV001831972",
          "RCV002516144"
        ],
        "variationId": 179230
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/10-73571072-G-C",
        "id": "10-73571072-G-C",
        "variant": "10:73571072 G / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.73571072G>C?assembly=hg19",
        "id": "chr10:g.73571072G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.71811315G>C?assembly=hg38",
        "id": "chr10:g.71811315G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/727504725",
        "rs": 727504725
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-73571072-G-C?dataset=gnomad_r2_1",
        "id": "10-73571072-G-C",
        "variant": "10:73571072 G / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-71811315-G-C?dataset=gnomad_r3",
        "id": "10-71811315-G-C",
        "variant": "10:71811315 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-71811315-G-C?dataset=gnomad_r4",
        "id": "10-71811315-G-C",
        "variant": "10:71811315 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 71811315,
          "referenceAllele": "G",
          "start": 71811314
        }
      ],
      "hgvs": [
        "NC_000010.11:g.71811315G>C",
        "CM000672.2:g.71811315G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 73571072,
          "referenceAllele": "G",
          "start": 73571071
        }
      ],
      "hgvs": [
        "NC_000010.10:g.73571072G>C",
        "CM000672.1:g.73571072G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 73241078,
          "referenceAllele": "G",
          "start": 73241077
        }
      ],
      "hgvs": [
        "NC_000010.9:g.73241078G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 419369,
          "referenceAllele": "G",
          "start": 419368
        }
      ],
      "hgvs": [
        "NG_008835.1:g.419369G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001230"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9482,
          "referenceAllele": "G",
          "start": 9481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000224721.12:c.9078G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000224721.9:p.Arg3026="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740637",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000224721.12:c.9078G>C"
          },
          "RefSeq": {
            "hgvs": "NM_022124.6:c.9078G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000224721.9:p.Arg3026="
          },
          "RefSeq": {
            "hgvs": "NP_071407.4:p.Arg3026="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3011,
          "referenceAllele": "G",
          "start": 3010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000642965.1:c.3011G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495222.1:n.3011G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2675,
          "referenceAllele": "G",
          "start": 2674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000647092.1:c.2675G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495176.1:n.2675G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769228"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9483,
          "referenceAllele": "G",
          "start": 9482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000224721.10:c.9093G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000224721.8:p.Arg3031="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248471"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2675,
          "referenceAllele": "G",
          "start": 2674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000398788.4:c.2358G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381768.3:p.Arg786="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278419"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2614,
          "referenceAllele": "G",
          "start": 2613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000475158.1:n.2614G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316502"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2675,
          "referenceAllele": "G",
          "start": 2674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000619887.4:c.2358G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478374.1:p.Arg786="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404567"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9468,
          "referenceAllele": "G",
          "start": 9467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000622827.4:c.9078G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483211.1:p.Arg3026="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405902"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826097638",
      "coordinates": [
        {
          "allele": "C",
          "end": 2675,
          "referenceAllele": "G",
          "start": 2674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NM_001171933.1:c.2358G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165404.1:p.Arg786="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015394"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826099669",
      "coordinates": [
        {
          "allele": "C",
          "end": 2675,
          "referenceAllele": "G",
          "start": 2674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NM_001171934.1:c.2358G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165405.1:p.Arg786="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015395"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829975535",
      "coordinates": [
        {
          "allele": "C",
          "end": 9468,
          "referenceAllele": "G",
          "start": 9467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NM_022124.5:c.9078G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_071407.4:p.Arg3026="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037218"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9516,
          "referenceAllele": "G",
          "start": 9515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_006717940.2:c.9273G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718003.1:p.Arg3091="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072393"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9450,
          "referenceAllele": "G",
          "start": 9449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_006717942.2:c.9207G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718005.1:p.Arg3069="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072394"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9513,
          "referenceAllele": "G",
          "start": 9512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540039.1:c.9270G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538341.1:p.Arg3090="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106989"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9510,
          "referenceAllele": "G",
          "start": 9509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540040.1:c.9267G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538342.1:p.Arg3089="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106990"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9468,
          "referenceAllele": "G",
          "start": 9467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540041.1:c.9213G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538343.1:p.Arg3071="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106991"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9426,
          "referenceAllele": "G",
          "start": 9425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540042.1:c.9183G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538344.1:p.Arg3061="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106992"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9516,
          "referenceAllele": "G",
          "start": 9515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540043.1:c.9273G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538345.1:p.Arg3091="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106993"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9200,
          "referenceAllele": "G",
          "start": 9199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540044.1:c.9138G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538346.1:p.Arg3046="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106994"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9516,
          "referenceAllele": "G",
          "start": 9515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540045.1:c.9273G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538347.1:p.Arg3091="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106995"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8938,
          "referenceAllele": "G",
          "start": 8937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540046.1:c.8733G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538348.1:p.Arg2911="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106996"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8106,
          "referenceAllele": "G",
          "start": 8105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540047.1:c.8091G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538349.1:p.Arg2697="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106997"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5739,
          "referenceAllele": "G",
          "start": 5738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540052.1:c.5601G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538354.1:p.Arg1867="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107002"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829975535",
      "coordinates": [
        {
          "allele": "C",
          "end": 9482,
          "referenceAllele": "G",
          "start": 9481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NM_022124.6:c.9078G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_071407.4:p.Arg3026="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698509",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000224721.12:c.9078G>C"
          },
          "RefSeq": {
            "hgvs": "NM_022124.6:c.9078G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000224721.9:p.Arg3026="
          },
          "RefSeq": {
            "hgvs": "NP_071407.4:p.Arg3026="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}