{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA137543",
  "communityStandardTitle": [
    "NM_022124.6(CDH23):c.6648C>T (p.Ala2216=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=55180[alleleid]",
        "alleleId": 55180,
        "preferredName": "NM_022124.6(CDH23):c.6648C>T (p.Ala2216=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/46015",
        "RCV": [
          "RCV000039251",
          "RCV001104587",
          "RCV000488048",
          "RCV001107333",
          "RCV001275577"
        ],
        "variationId": 46015
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/10-73553333-C-T",
        "id": "10-73553333-C-T",
        "variant": "10:73553333 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.73553333C>T?assembly=hg19",
        "id": "chr10:g.73553333C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.71793576C>T?assembly=hg38",
        "id": "chr10:g.71793576C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/186394654",
        "rs": 186394654
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-73553333-C-T?dataset=gnomad_r2_1",
        "id": "10-73553333-C-T",
        "variant": "10:73553333 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-71793576-C-T?dataset=gnomad_r3",
        "id": "10-71793576-C-T",
        "variant": "10:71793576 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-71793576-C-T?dataset=gnomad_r4",
        "id": "10-71793576-C-T",
        "variant": "10:71793576 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 71793576,
          "referenceAllele": "C",
          "start": 71793575
        }
      ],
      "hgvs": [
        "NC_000010.11:g.71793576C>T",
        "CM000672.2:g.71793576C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 73553333,
          "referenceAllele": "C",
          "start": 73553332
        }
      ],
      "hgvs": [
        "NC_000010.10:g.73553333C>T",
        "CM000672.1:g.73553333C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 73223339,
          "referenceAllele": "C",
          "start": 73223338
        }
      ],
      "hgvs": [
        "NC_000010.9:g.73223339C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 401630,
          "referenceAllele": "C",
          "start": 401629
        }
      ],
      "hgvs": [
        "NG_008835.1:g.401630C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001230"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7052,
          "referenceAllele": "C",
          "start": 7051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000224721.12:c.6648C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000224721.9:p.Ala2216="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740637",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000224721.12:c.6648C>T"
          },
          "RefSeq": {
            "hgvs": "NM_022124.6:c.6648C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000224721.9:p.Ala2216="
          },
          "RefSeq": {
            "hgvs": "NP_071407.4:p.Ala2216="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7053,
          "referenceAllele": "C",
          "start": 7052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000224721.10:c.6663C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000224721.8:p.Ala2221="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248471"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7038,
          "referenceAllele": "C",
          "start": 7037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000622827.4:c.6648C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483211.1:p.Ala2216="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405902"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829974001",
      "coordinates": [
        {
          "allele": "T",
          "end": 7038,
          "referenceAllele": "C",
          "start": 7037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NM_022124.5:c.6648C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_071407.4:p.Ala2216="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037218"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7086,
          "referenceAllele": "C",
          "start": 7085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_006717940.2:c.6843C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718003.1:p.Ala2281="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072393"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7020,
          "referenceAllele": "C",
          "start": 7019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_006717942.2:c.6777C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718005.1:p.Ala2259="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072394"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7083,
          "referenceAllele": "C",
          "start": 7082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540039.1:c.6840C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538341.1:p.Ala2280="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106989"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7080,
          "referenceAllele": "C",
          "start": 7079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540040.1:c.6837C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538342.1:p.Ala2279="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106990"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7038,
          "referenceAllele": "C",
          "start": 7037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540041.1:c.6783C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538343.1:p.Ala2261="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106991"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6996,
          "referenceAllele": "C",
          "start": 6995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540042.1:c.6753C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538344.1:p.Ala2251="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106992"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7086,
          "referenceAllele": "C",
          "start": 7085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540043.1:c.6843C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538345.1:p.Ala2281="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106993"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6770,
          "referenceAllele": "C",
          "start": 6769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540044.1:c.6708C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538346.1:p.Ala2236="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106994"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7086,
          "referenceAllele": "C",
          "start": 7085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540045.1:c.6843C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538347.1:p.Ala2281="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106995"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6508,
          "referenceAllele": "C",
          "start": 6507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540046.1:c.6303C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538348.1:p.Ala2101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106996"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5676,
          "referenceAllele": "C",
          "start": 5675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540047.1:c.5661C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538349.1:p.Ala1887="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106997"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7086,
          "referenceAllele": "C",
          "start": 7085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540048.1:c.6843C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538350.1:p.Ala2281="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106998"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7086,
          "referenceAllele": "C",
          "start": 7085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540049.1:c.6843C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538351.1:p.Ala2281="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106999"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7086,
          "referenceAllele": "C",
          "start": 7085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540050.1:c.6843C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538352.1:p.Ala2281="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107000"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7086,
          "referenceAllele": "C",
          "start": 7085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540051.1:c.6843C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538353.1:p.Ala2281="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3309,
          "referenceAllele": "C",
          "start": 3308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540052.1:c.3171C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538354.1:p.Ala1057="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7086,
          "referenceAllele": "C",
          "start": 7085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XR_945796.1:n.7086C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS139429"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829974001",
      "coordinates": [
        {
          "allele": "T",
          "end": 7052,
          "referenceAllele": "C",
          "start": 7051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NM_022124.6:c.6648C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_071407.4:p.Ala2216="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698509",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000224721.12:c.6648C>T"
          },
          "RefSeq": {
            "hgvs": "NM_022124.6:c.6648C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000224721.9:p.Ala2216="
          },
          "RefSeq": {
            "hgvs": "NP_071407.4:p.Ala2216="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}