{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA137393",
  "communityStandardTitle": [
    "NM_022124.6(CDH23):c.3801C>T (p.Thr1267=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=55095[alleleid]",
        "alleleId": 55095,
        "preferredName": "NM_022124.6(CDH23):c.3801C>T (p.Thr1267=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/45930",
        "RCV": [
          "RCV000039164",
          "RCV000723699",
          "RCV001103710",
          "RCV001272566",
          "RCV001103709"
        ],
        "variationId": 45930
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/10-73491829-C-T",
        "id": "10-73491829-C-T",
        "variant": "10:73491829 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.73491829C>T?assembly=hg19",
        "id": "chr10:g.73491829C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.71732072C>T?assembly=hg38",
        "id": "chr10:g.71732072C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/56107171",
        "rs": 56107171
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-73491829-C-T?dataset=gnomad_r2_1",
        "id": "10-73491829-C-T",
        "variant": "10:73491829 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-71732072-C-T?dataset=gnomad_r3",
        "id": "10-71732072-C-T",
        "variant": "10:71732072 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-71732072-C-T?dataset=gnomad_r4",
        "id": "10-71732072-C-T",
        "variant": "10:71732072 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 71732072,
          "referenceAllele": "C",
          "start": 71732071
        }
      ],
      "hgvs": [
        "NC_000010.11:g.71732072C>T",
        "CM000672.2:g.71732072C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 73491829,
          "referenceAllele": "C",
          "start": 73491828
        }
      ],
      "hgvs": [
        "NC_000010.10:g.73491829C>T",
        "CM000672.1:g.73491829C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 73161835,
          "referenceAllele": "C",
          "start": 73161834
        }
      ],
      "hgvs": [
        "NC_000010.9:g.73161835C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 340126,
          "referenceAllele": "C",
          "start": 340125
        }
      ],
      "hgvs": [
        "NG_008835.1:g.340126C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001230"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4205,
          "referenceAllele": "C",
          "start": 4204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000224721.12:c.3801C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000224721.9:p.Thr1267="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740637",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000224721.12:c.3801C>T"
          },
          "RefSeq": {
            "hgvs": "NM_022124.6:c.3801C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000224721.9:p.Thr1267="
          },
          "RefSeq": {
            "hgvs": "NP_071407.4:p.Thr1267="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4188,
          "referenceAllele": "C",
          "start": 4187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000398809.9:c.3798C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381789.5:p.Thr1266="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753788"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4206,
          "referenceAllele": "C",
          "start": 4205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000224721.10:c.3816C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000224721.8:p.Thr1272="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248471"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 97,
          "endIntronDirection": "+",
          "endIntronOffset": 5656,
          "referenceAllele": "G",
          "start": 97,
          "startIntronDirection": "+",
          "startIntronOffset": 5655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020304",
      "geneNCBI_id": 414152,
      "geneSymbol": "C10orf105",
      "hgvs": [
        "ENST00000398786.2:c.-6+5656G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381766.3:n.-6+5656G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278418"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 493,
          "referenceAllele": "C",
          "start": 492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000398792.3:n.493C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS278420"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4188,
          "referenceAllele": "C",
          "start": 4187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000398809.8:c.3798C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381789.5:p.Thr1266="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278430"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4163,
          "referenceAllele": "C",
          "start": 4162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000616684.4:c.3801C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482036.2:p.Thr1267="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403156"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4191,
          "referenceAllele": "C",
          "start": 4190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000622827.4:c.3801C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483211.1:p.Thr1267="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405902"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 97,
          "endIntronDirection": "+",
          "endIntronOffset": 5656,
          "referenceAllele": "G",
          "start": 97,
          "startIntronDirection": "+",
          "startIntronOffset": 5655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020304",
      "geneNCBI_id": 414152,
      "geneSymbol": "C10orf105",
      "hgvs": [
        "NM_001168390.1:c.-6+5656G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161862.1:n.-6+5656G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015107"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826092994",
      "coordinates": [
        {
          "allele": "T",
          "end": 4191,
          "referenceAllele": "C",
          "start": 4190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NM_001171930.1:c.3801C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165401.1:p.Thr1267="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015391"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829972373",
      "coordinates": [
        {
          "allele": "T",
          "end": 4191,
          "referenceAllele": "C",
          "start": 4190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NM_022124.5:c.3801C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_071407.4:p.Thr1267="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037218"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4239,
          "referenceAllele": "C",
          "start": 4238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_006717940.2:c.3996C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718003.1:p.Thr1332="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072393"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4173,
          "referenceAllele": "C",
          "start": 4172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_006717942.2:c.3930C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718005.1:p.Thr1310="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072394"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4239,
          "referenceAllele": "C",
          "start": 4238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540039.1:c.3996C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538341.1:p.Thr1332="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106989"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4233,
          "referenceAllele": "C",
          "start": 4232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540040.1:c.3990C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538342.1:p.Thr1330="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106990"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4191,
          "referenceAllele": "C",
          "start": 4190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540041.1:c.3936C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538343.1:p.Thr1312="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106991"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4239,
          "referenceAllele": "C",
          "start": 4238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540042.1:c.3996C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538344.1:p.Thr1332="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106992"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4239,
          "referenceAllele": "C",
          "start": 4238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540043.1:c.3996C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538345.1:p.Thr1332="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106993"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3923,
          "referenceAllele": "C",
          "start": 3922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540044.1:c.3861C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538346.1:p.Thr1287="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106994"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4239,
          "referenceAllele": "C",
          "start": 4238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540045.1:c.3996C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538347.1:p.Thr1332="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106995"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3661,
          "referenceAllele": "C",
          "start": 3660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540046.1:c.3456C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538348.1:p.Thr1152="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106996"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2829,
          "referenceAllele": "C",
          "start": 2828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540047.1:c.2814C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538349.1:p.Thr938="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106997"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4239,
          "referenceAllele": "C",
          "start": 4238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540048.1:c.3996C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538350.1:p.Thr1332="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106998"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4239,
          "referenceAllele": "C",
          "start": 4238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540049.1:c.3996C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538351.1:p.Thr1332="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106999"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4239,
          "referenceAllele": "C",
          "start": 4238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540050.1:c.3996C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538352.1:p.Thr1332="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107000"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4239,
          "referenceAllele": "C",
          "start": 4238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540051.1:c.3996C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538353.1:p.Thr1332="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 462,
          "referenceAllele": "C",
          "start": 461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540052.1:c.324C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538354.1:p.Thr108="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4239,
          "referenceAllele": "C",
          "start": 4238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540053.1:c.3996C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538355.1:p.Thr1332="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4239,
          "referenceAllele": "C",
          "start": 4238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XR_945796.1:n.4239C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS139429"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 123,
          "endIntronDirection": "+",
          "endIntronOffset": 5656,
          "referenceAllele": "G",
          "start": 123,
          "startIntronDirection": "+",
          "startIntronOffset": 5655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020304",
      "geneNCBI_id": 414152,
      "geneSymbol": "C10orf105",
      "hgvs": [
        "NM_001168390.2:c.-6+5656G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161862.1:n.-6+5656G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678588"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826092994",
      "coordinates": [
        {
          "allele": "T",
          "end": 4205,
          "referenceAllele": "C",
          "start": 4204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NM_001171930.2:c.3801C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165401.1:p.Thr1267="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678723"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829972373",
      "coordinates": [
        {
          "allele": "T",
          "end": 4205,
          "referenceAllele": "C",
          "start": 4204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NM_022124.6:c.3801C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_071407.4:p.Thr1267="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698509",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000224721.12:c.3801C>T"
          },
          "RefSeq": {
            "hgvs": "NM_022124.6:c.3801C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000224721.9:p.Thr1267="
          },
          "RefSeq": {
            "hgvs": "NP_071407.4:p.Thr1267="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}