{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA137558",
  "communityStandardTitle": [
    "NM_022124.6(CDH23):c.6990G>T (p.Leu2330=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=55189[alleleid]",
        "alleleId": 55189,
        "preferredName": "NM_022124.6(CDH23):c.6990G>T (p.Leu2330=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/46024",
        "RCV": [
          "RCV000039260",
          "RCV000840098",
          "RCV001102754",
          "RCV001102755",
          "RCV001831674"
        ],
        "variationId": 46024
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/10-73558271-G-T",
        "id": "10-73558271-G-T",
        "variant": "10:73558271 G / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.73558271G>T?assembly=hg19",
        "id": "chr10:g.73558271G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.71798514G>T?assembly=hg38",
        "id": "chr10:g.71798514G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/111033495",
        "rs": 111033495
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-73558271-G-T?dataset=gnomad_r2_1",
        "id": "10-73558271-G-T",
        "variant": "10:73558271 G / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-71798514-G-T?dataset=gnomad_r3",
        "id": "10-71798514-G-T",
        "variant": "10:71798514 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-71798514-G-T?dataset=gnomad_r4",
        "id": "10-71798514-G-T",
        "variant": "10:71798514 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 71798514,
          "referenceAllele": "G",
          "start": 71798513
        }
      ],
      "hgvs": [
        "NC_000010.11:g.71798514G>T",
        "CM000672.2:g.71798514G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 73558271,
          "referenceAllele": "G",
          "start": 73558270
        }
      ],
      "hgvs": [
        "NC_000010.10:g.73558271G>T",
        "CM000672.1:g.73558271G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 73228277,
          "referenceAllele": "G",
          "start": 73228276
        }
      ],
      "hgvs": [
        "NC_000010.9:g.73228277G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 406568,
          "referenceAllele": "G",
          "start": 406567
        }
      ],
      "hgvs": [
        "NG_008835.1:g.406568G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001230"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7394,
          "referenceAllele": "G",
          "start": 7393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000224721.12:c.6990G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000224721.9:p.Leu2330="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740637",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000224721.12:c.6990G>T"
          },
          "RefSeq": {
            "hgvs": "NM_022124.6:c.6990G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000224721.9:p.Leu2330="
          },
          "RefSeq": {
            "hgvs": "NP_071407.4:p.Leu2330="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 923,
          "referenceAllele": "G",
          "start": 922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000642965.1:c.923G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495222.1:n.923G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 587,
          "referenceAllele": "G",
          "start": 586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000647092.1:c.587G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495176.1:n.587G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769228"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7395,
          "referenceAllele": "G",
          "start": 7394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000224721.10:c.7005G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000224721.8:p.Leu2335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248471"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 587,
          "referenceAllele": "G",
          "start": 586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000398788.4:c.270G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381768.3:p.Leu90="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278419"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 526,
          "referenceAllele": "G",
          "start": 525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000475158.1:n.526G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316502"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 587,
          "referenceAllele": "G",
          "start": 586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000619887.4:c.270G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478374.1:p.Leu90="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404567"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7380,
          "referenceAllele": "G",
          "start": 7379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000622827.4:c.6990G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483211.1:p.Leu2330="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405902"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826096408",
      "coordinates": [
        {
          "allele": "T",
          "end": 587,
          "referenceAllele": "G",
          "start": 586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NM_001171933.1:c.270G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165404.1:p.Leu90="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015394"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826098440",
      "coordinates": [
        {
          "allele": "T",
          "end": 587,
          "referenceAllele": "G",
          "start": 586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NM_001171934.1:c.270G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165405.1:p.Leu90="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015395"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829974157",
      "coordinates": [
        {
          "allele": "T",
          "end": 7380,
          "referenceAllele": "G",
          "start": 7379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NM_022124.5:c.6990G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_071407.4:p.Leu2330="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037218"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7428,
          "referenceAllele": "G",
          "start": 7427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_006717940.2:c.7185G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718003.1:p.Leu2395="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072393"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7362,
          "referenceAllele": "G",
          "start": 7361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_006717942.2:c.7119G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718005.1:p.Leu2373="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072394"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7425,
          "referenceAllele": "G",
          "start": 7424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540039.1:c.7182G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538341.1:p.Leu2394="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106989"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7422,
          "referenceAllele": "G",
          "start": 7421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540040.1:c.7179G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538342.1:p.Leu2393="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106990"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7380,
          "referenceAllele": "G",
          "start": 7379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540041.1:c.7125G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538343.1:p.Leu2375="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106991"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7338,
          "referenceAllele": "G",
          "start": 7337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540042.1:c.7095G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538344.1:p.Leu2365="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106992"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7428,
          "referenceAllele": "G",
          "start": 7427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540043.1:c.7185G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538345.1:p.Leu2395="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106993"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7112,
          "referenceAllele": "G",
          "start": 7111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540044.1:c.7050G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538346.1:p.Leu2350="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106994"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7428,
          "referenceAllele": "G",
          "start": 7427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540045.1:c.7185G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538347.1:p.Leu2395="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106995"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6850,
          "referenceAllele": "G",
          "start": 6849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540046.1:c.6645G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538348.1:p.Leu2215="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106996"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6018,
          "referenceAllele": "G",
          "start": 6017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540047.1:c.6003G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538349.1:p.Leu2001="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106997"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3651,
          "referenceAllele": "G",
          "start": 3650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540052.1:c.3513G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538354.1:p.Leu1171="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107002"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829974157",
      "coordinates": [
        {
          "allele": "T",
          "end": 7394,
          "referenceAllele": "G",
          "start": 7393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NM_022124.6:c.6990G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_071407.4:p.Leu2330="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698509",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000224721.12:c.6990G>T"
          },
          "RefSeq": {
            "hgvs": "NM_022124.6:c.6990G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000224721.9:p.Leu2330="
          },
          "RefSeq": {
            "hgvs": "NP_071407.4:p.Leu2330="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}