{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA182092",
  "communityStandardTitle": [
    "NM_022124.6(CDH23):c.9629T>C (p.Ile3210Thr)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM5989707"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=175287[alleleid]",
        "alleleId": 175287,
        "preferredName": "NM_022124.6(CDH23):c.9629T>C (p.Ile3210Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/178315",
        "RCV": [
          "RCV000155059",
          "RCV000317072",
          "RCV000277348",
          "RCV000298108",
          "RCV000371681",
          "RCV000313766",
          "RCV000353393",
          "RCV001241617",
          "RCV001276933",
          "RCV001526764"
        ],
        "variationId": 178315
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/10-73572643-T-C",
        "id": "10-73572643-T-C",
        "variant": "10:73572643 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.73572643T>C?assembly=hg19",
        "id": "chr10:g.73572643T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.71812886T>C?assembly=hg38",
        "id": "chr10:g.71812886T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/144688588",
        "rs": 144688588
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-73572643-T-C?dataset=gnomad_r2_1",
        "id": "10-73572643-T-C",
        "variant": "10:73572643 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-71812886-T-C?dataset=gnomad_r3",
        "id": "10-71812886-T-C",
        "variant": "10:71812886 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-71812886-T-C?dataset=gnomad_r4",
        "id": "10-71812886-T-C",
        "variant": "10:71812886 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 71812886,
          "referenceAllele": "T",
          "start": 71812885
        }
      ],
      "hgvs": [
        "NC_000010.11:g.71812886T>C",
        "CM000672.2:g.71812886T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 73572643,
          "referenceAllele": "T",
          "start": 73572642
        }
      ],
      "hgvs": [
        "NC_000010.10:g.73572643T>C",
        "CM000672.1:g.73572643T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 73242649,
          "referenceAllele": "T",
          "start": 73242648
        }
      ],
      "hgvs": [
        "NC_000010.9:g.73242649T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 420940,
          "referenceAllele": "T",
          "start": 420939
        }
      ],
      "hgvs": [
        "NG_008835.1:g.420940T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001230"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 10033,
          "referenceAllele": "T",
          "start": 10032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000224721.12:c.9629T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000224721.9:p.Ile3210Thr",
        "hgvsWellDefined": "ENSP00000224721.9:p.Ile3210Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740637",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000224721.12:c.9629T>C"
          },
          "RefSeq": {
            "hgvs": "NM_022124.6:c.9629T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000224721.9:p.Ile3210Thr"
          },
          "RefSeq": {
            "hgvs": "NP_071407.4:p.Ile3210Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3562,
          "referenceAllele": "T",
          "start": 3561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000642965.1:c.3562T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495222.1:n.3562T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3226,
          "referenceAllele": "T",
          "start": 3225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000647092.1:c.3226T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495176.1:n.3226T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769228"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 10034,
          "referenceAllele": "T",
          "start": 10033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000224721.10:c.9644T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000224721.8:p.Ile3215Thr",
        "hgvsWellDefined": "ENSP00000224721.8:p.Ile3215Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248471"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3226,
          "referenceAllele": "T",
          "start": 3225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000398788.4:c.2909T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381768.3:p.Ile970Thr",
        "hgvsWellDefined": "ENSP00000381768.3:p.Ile970Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278419"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3165,
          "referenceAllele": "T",
          "start": 3164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000475158.1:n.3165T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316502"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3226,
          "referenceAllele": "T",
          "start": 3225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000619887.4:c.2909T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478374.1:p.Ile970Thr",
        "hgvsWellDefined": "ENSP00000478374.1:p.Ile970Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404567"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 10019,
          "referenceAllele": "T",
          "start": 10018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000622827.4:c.9629T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483211.1:p.Ile3210Thr",
        "hgvsWellDefined": "ENSP00000483211.1:p.Ile3210Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405902"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826097927",
      "coordinates": [
        {
          "allele": "C",
          "end": 3226,
          "referenceAllele": "T",
          "start": 3225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NM_001171933.1:c.2909T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165404.1:p.Ile970Thr",
        "hgvsWellDefined": "NP_001165404.1:p.Ile970Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015394"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915992219",
      "coordinates": [
        {
          "allele": "C",
          "end": 3226,
          "referenceAllele": "T",
          "start": 3225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NM_001171934.1:c.2909T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165405.1:p.Ile970Thr",
        "hgvsWellDefined": "NP_001165405.1:p.Ile970Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015395"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826100531",
      "coordinates": [
        {
          "allele": "C",
          "end": 729,
          "referenceAllele": "T",
          "start": 728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NM_001171935.1:c.320T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165406.1:p.Ile107Thr",
        "hgvsWellDefined": "NP_001165406.1:p.Ile107Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015396"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826101203",
      "coordinates": [
        {
          "allele": "C",
          "end": 729,
          "referenceAllele": "T",
          "start": 728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NM_001171936.1:c.320T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165407.1:p.Ile107Thr",
        "hgvsWellDefined": "NP_001165407.1:p.Ile107Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015397"
    },
    {
      "@id": "http://reg.genome.network/allele/PA182093",
      "coordinates": [
        {
          "allele": "C",
          "end": 10019,
          "referenceAllele": "T",
          "start": 10018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NM_022124.5:c.9629T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_071407.4:p.Ile3210Thr",
        "hgvsWellDefined": "NP_071407.4:p.Ile3210Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037218"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 10067,
          "referenceAllele": "T",
          "start": 10066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_006717940.2:c.9824T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718003.1:p.Ile3275Thr",
        "hgvsWellDefined": "XP_006718003.1:p.Ile3275Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072393"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 10001,
          "referenceAllele": "T",
          "start": 10000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_006717942.2:c.9758T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718005.1:p.Ile3253Thr",
        "hgvsWellDefined": "XP_006718005.1:p.Ile3253Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072394"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 10064,
          "referenceAllele": "T",
          "start": 10063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540039.1:c.9821T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538341.1:p.Ile3274Thr",
        "hgvsWellDefined": "XP_011538341.1:p.Ile3274Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106989"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 10061,
          "referenceAllele": "T",
          "start": 10060
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540040.1:c.9818T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538342.1:p.Ile3273Thr",
        "hgvsWellDefined": "XP_011538342.1:p.Ile3273Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106990"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 10019,
          "referenceAllele": "T",
          "start": 10018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540041.1:c.9764T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538343.1:p.Ile3255Thr",
        "hgvsWellDefined": "XP_011538343.1:p.Ile3255Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106991"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9977,
          "referenceAllele": "T",
          "start": 9976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540042.1:c.9734T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538344.1:p.Ile3245Thr",
        "hgvsWellDefined": "XP_011538344.1:p.Ile3245Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106992"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 10067,
          "referenceAllele": "T",
          "start": 10066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540043.1:c.9824T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538345.1:p.Ile3275Thr",
        "hgvsWellDefined": "XP_011538345.1:p.Ile3275Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106993"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9751,
          "referenceAllele": "T",
          "start": 9750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540044.1:c.9689T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538346.1:p.Ile3230Thr",
        "hgvsWellDefined": "XP_011538346.1:p.Ile3230Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106994"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 10067,
          "referenceAllele": "T",
          "start": 10066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540045.1:c.9824T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538347.1:p.Ile3275Thr",
        "hgvsWellDefined": "XP_011538347.1:p.Ile3275Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106995"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9489,
          "referenceAllele": "T",
          "start": 9488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540046.1:c.9284T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538348.1:p.Ile3095Thr",
        "hgvsWellDefined": "XP_011538348.1:p.Ile3095Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106996"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8657,
          "referenceAllele": "T",
          "start": 8656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540047.1:c.8642T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538349.1:p.Ile2881Thr",
        "hgvsWellDefined": "XP_011538349.1:p.Ile2881Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106997"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6290,
          "referenceAllele": "T",
          "start": 6289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540052.1:c.6152T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538354.1:p.Ile2051Thr",
        "hgvsWellDefined": "XP_011538354.1:p.Ile2051Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107002"
    },
    {
      "@id": "http://reg.genome.network/allele/PA182093",
      "coordinates": [
        {
          "allele": "C",
          "end": 10033,
          "referenceAllele": "T",
          "start": 10032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NM_022124.6:c.9629T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_071407.4:p.Ile3210Thr",
        "hgvsWellDefined": "NP_071407.4:p.Ile3210Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698509",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000224721.12:c.9629T>C"
          },
          "RefSeq": {
            "hgvs": "NM_022124.6:c.9629T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000224721.9:p.Ile3210Thr"
          },
          "RefSeq": {
            "hgvs": "NP_071407.4:p.Ile3210Thr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}