{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA175526",
  "communityStandardTitle": [
    "NM_022124.6(CDH23):c.8823C>T (p.Asn2941=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=175002[alleleid]",
        "alleleId": 175002,
        "preferredName": "NM_022124.6(CDH23):c.8823C>T (p.Asn2941=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/162948",
        "RCV": [
          "RCV000150326",
          "RCV000900337",
          "RCV001106037",
          "RCV001106038"
        ],
        "variationId": 162948
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/10-73569677-C-T",
        "id": "10-73569677-C-T",
        "variant": "10:73569677 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.73569677C>T?assembly=hg19",
        "id": "chr10:g.73569677C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.71809920C>T?assembly=hg38",
        "id": "chr10:g.71809920C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/370184182",
        "rs": 370184182
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-73569677-C-T?dataset=gnomad_r2_1",
        "id": "10-73569677-C-T",
        "variant": "10:73569677 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-71809920-C-T?dataset=gnomad_r3",
        "id": "10-71809920-C-T",
        "variant": "10:71809920 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-71809920-C-T?dataset=gnomad_r4",
        "id": "10-71809920-C-T",
        "variant": "10:71809920 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 71809920,
          "referenceAllele": "C",
          "start": 71809919
        }
      ],
      "hgvs": [
        "NC_000010.11:g.71809920C>T",
        "CM000672.2:g.71809920C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 73569677,
          "referenceAllele": "C",
          "start": 73569676
        }
      ],
      "hgvs": [
        "NC_000010.10:g.73569677C>T",
        "CM000672.1:g.73569677C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 73239683,
          "referenceAllele": "C",
          "start": 73239682
        }
      ],
      "hgvs": [
        "NC_000010.9:g.73239683C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 417974,
          "referenceAllele": "C",
          "start": 417973
        }
      ],
      "hgvs": [
        "NG_008835.1:g.417974C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001230"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9227,
          "referenceAllele": "C",
          "start": 9226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000224721.12:c.8823C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000224721.9:p.Asn2941="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740637",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000224721.12:c.8823C>T"
          },
          "RefSeq": {
            "hgvs": "NM_022124.6:c.8823C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000224721.9:p.Asn2941="
          },
          "RefSeq": {
            "hgvs": "NP_071407.4:p.Asn2941="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2756,
          "referenceAllele": "C",
          "start": 2755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000642965.1:c.2756C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495222.1:n.2756C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2420,
          "referenceAllele": "C",
          "start": 2419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000647092.1:c.2420C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495176.1:n.2420C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769228"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9228,
          "referenceAllele": "C",
          "start": 9227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000224721.10:c.8838C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000224721.8:p.Asn2946="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248471"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2420,
          "referenceAllele": "C",
          "start": 2419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000398788.4:c.2103C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381768.3:p.Asn701="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278419"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2359,
          "referenceAllele": "C",
          "start": 2358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000475158.1:n.2359C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316502"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2420,
          "referenceAllele": "C",
          "start": 2419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000619887.4:c.2103C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478374.1:p.Asn701="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404567"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9213,
          "referenceAllele": "C",
          "start": 9212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000622827.4:c.8823C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483211.1:p.Asn2941="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405902"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826097431",
      "coordinates": [
        {
          "allele": "T",
          "end": 2420,
          "referenceAllele": "C",
          "start": 2419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NM_001171933.1:c.2103C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165404.1:p.Asn701="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015394"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826099476",
      "coordinates": [
        {
          "allele": "T",
          "end": 2420,
          "referenceAllele": "C",
          "start": 2419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NM_001171934.1:c.2103C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165405.1:p.Asn701="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015395"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829975307",
      "coordinates": [
        {
          "allele": "T",
          "end": 9213,
          "referenceAllele": "C",
          "start": 9212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NM_022124.5:c.8823C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_071407.4:p.Asn2941="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037218"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9261,
          "referenceAllele": "C",
          "start": 9260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_006717940.2:c.9018C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718003.1:p.Asn3006="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072393"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9195,
          "referenceAllele": "C",
          "start": 9194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_006717942.2:c.8952C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718005.1:p.Asn2984="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072394"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9258,
          "referenceAllele": "C",
          "start": 9257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540039.1:c.9015C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538341.1:p.Asn3005="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106989"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9255,
          "referenceAllele": "C",
          "start": 9254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540040.1:c.9012C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538342.1:p.Asn3004="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106990"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9213,
          "referenceAllele": "C",
          "start": 9212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540041.1:c.8958C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538343.1:p.Asn2986="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106991"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9171,
          "referenceAllele": "C",
          "start": 9170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540042.1:c.8928C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538344.1:p.Asn2976="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106992"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9261,
          "referenceAllele": "C",
          "start": 9260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540043.1:c.9018C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538345.1:p.Asn3006="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106993"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8945,
          "referenceAllele": "C",
          "start": 8944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540044.1:c.8883C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538346.1:p.Asn2961="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106994"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9261,
          "referenceAllele": "C",
          "start": 9260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540045.1:c.9018C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538347.1:p.Asn3006="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106995"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8683,
          "referenceAllele": "C",
          "start": 8682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540046.1:c.8478C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538348.1:p.Asn2826="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106996"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7851,
          "referenceAllele": "C",
          "start": 7850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540047.1:c.7836C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538349.1:p.Asn2612="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106997"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5484,
          "referenceAllele": "C",
          "start": 5483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540052.1:c.5346C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538354.1:p.Asn1782="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107002"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829975307",
      "coordinates": [
        {
          "allele": "T",
          "end": 9227,
          "referenceAllele": "C",
          "start": 9226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NM_022124.6:c.8823C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_071407.4:p.Asn2941="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698509",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000224721.12:c.8823C>T"
          },
          "RefSeq": {
            "hgvs": "NM_022124.6:c.8823C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000224721.9:p.Asn2941="
          },
          "RefSeq": {
            "hgvs": "NP_071407.4:p.Asn2941="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}