{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA180727",
  "communityStandardTitle": [
    "NM_022124.6(CDH23):c.8311G>A (p.Gly2771Ser)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3375524",
        "active": true,
        "id": "COSM3375524"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=175000[alleleid]",
        "alleleId": 175000,
        "preferredName": "NM_022124.6(CDH23):c.8311G>A (p.Gly2771Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/177767",
        "RCV": [
          "RCV000154384",
          "RCV001053772",
          "RCV001102961",
          "RCV001102962",
          "RCV001276918",
          "RCV001375066"
        ],
        "variationId": 177767
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/10-73567275-G-A",
        "id": "10-73567275-G-A",
        "variant": "10:73567275 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.73567275G>A?assembly=hg19",
        "id": "chr10:g.73567275G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.71807518G>A?assembly=hg38",
        "id": "chr10:g.71807518G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/201076440",
        "rs": 201076440
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-73567275-G-A?dataset=gnomad_r2_1",
        "id": "10-73567275-G-A",
        "variant": "10:73567275 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-71807518-G-A?dataset=gnomad_r3",
        "id": "10-71807518-G-A",
        "variant": "10:71807518 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-71807518-G-A?dataset=gnomad_r4",
        "id": "10-71807518-G-A",
        "variant": "10:71807518 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 71807518,
          "referenceAllele": "G",
          "start": 71807517
        }
      ],
      "hgvs": [
        "NC_000010.11:g.71807518G>A",
        "CM000672.2:g.71807518G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 73567275,
          "referenceAllele": "G",
          "start": 73567274
        }
      ],
      "hgvs": [
        "NC_000010.10:g.73567275G>A",
        "CM000672.1:g.73567275G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 73237281,
          "referenceAllele": "G",
          "start": 73237280
        }
      ],
      "hgvs": [
        "NC_000010.9:g.73237281G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 415572,
          "referenceAllele": "G",
          "start": 415571
        }
      ],
      "hgvs": [
        "NG_008835.1:g.415572G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001230"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8715,
          "referenceAllele": "G",
          "start": 8714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000224721.12:c.8311G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000224721.9:p.Gly2771Ser",
        "hgvsWellDefined": "ENSP00000224721.9:p.Gly2771Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740637",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000224721.12:c.8311G>A"
          },
          "RefSeq": {
            "hgvs": "NM_022124.6:c.8311G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000224721.9:p.Gly2771Ser"
          },
          "RefSeq": {
            "hgvs": "NP_071407.4:p.Gly2771Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2244,
          "referenceAllele": "G",
          "start": 2243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000642965.1:c.2244G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495222.1:n.2244G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767016"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1908,
          "referenceAllele": "G",
          "start": 1907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000647092.1:c.1908G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495176.1:n.1908G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769228"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8716,
          "referenceAllele": "G",
          "start": 8715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000224721.10:c.8326G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000224721.8:p.Gly2776Ser",
        "hgvsWellDefined": "ENSP00000224721.8:p.Gly2776Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248471"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1908,
          "referenceAllele": "G",
          "start": 1907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000398788.4:c.1591G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381768.3:p.Gly531Ser",
        "hgvsWellDefined": "ENSP00000381768.3:p.Gly531Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278419"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1847,
          "referenceAllele": "G",
          "start": 1846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000475158.1:n.1847G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316502"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1908,
          "referenceAllele": "G",
          "start": 1907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000619887.4:c.1591G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478374.1:p.Gly531Ser",
        "hgvsWellDefined": "ENSP00000478374.1:p.Gly531Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404567"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8701,
          "referenceAllele": "G",
          "start": 8700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000622827.4:c.8311G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483211.1:p.Gly2771Ser",
        "hgvsWellDefined": "ENSP00000483211.1:p.Gly2771Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405902"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826097132",
      "coordinates": [
        {
          "allele": "A",
          "end": 1908,
          "referenceAllele": "G",
          "start": 1907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NM_001171933.1:c.1591G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165404.1:p.Gly531Ser",
        "hgvsWellDefined": "NP_001165404.1:p.Gly531Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015394"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915992065",
      "coordinates": [
        {
          "allele": "A",
          "end": 1908,
          "referenceAllele": "G",
          "start": 1907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NM_001171934.1:c.1591G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165405.1:p.Gly531Ser",
        "hgvsWellDefined": "NP_001165405.1:p.Gly531Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015395"
    },
    {
      "@id": "http://reg.genome.network/allele/PA180728",
      "coordinates": [
        {
          "allele": "A",
          "end": 8701,
          "referenceAllele": "G",
          "start": 8700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NM_022124.5:c.8311G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_071407.4:p.Gly2771Ser",
        "hgvsWellDefined": "NP_071407.4:p.Gly2771Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037218"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8749,
          "referenceAllele": "G",
          "start": 8748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_006717940.2:c.8506G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718003.1:p.Gly2836Ser",
        "hgvsWellDefined": "XP_006718003.1:p.Gly2836Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072393"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8683,
          "referenceAllele": "G",
          "start": 8682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_006717942.2:c.8440G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718005.1:p.Gly2814Ser",
        "hgvsWellDefined": "XP_006718005.1:p.Gly2814Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072394"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8746,
          "referenceAllele": "G",
          "start": 8745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540039.1:c.8503G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538341.1:p.Gly2835Ser",
        "hgvsWellDefined": "XP_011538341.1:p.Gly2835Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106989"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8743,
          "referenceAllele": "G",
          "start": 8742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540040.1:c.8500G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538342.1:p.Gly2834Ser",
        "hgvsWellDefined": "XP_011538342.1:p.Gly2834Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106990"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8701,
          "referenceAllele": "G",
          "start": 8700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540041.1:c.8446G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538343.1:p.Gly2816Ser",
        "hgvsWellDefined": "XP_011538343.1:p.Gly2816Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106991"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8659,
          "referenceAllele": "G",
          "start": 8658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540042.1:c.8416G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538344.1:p.Gly2806Ser",
        "hgvsWellDefined": "XP_011538344.1:p.Gly2806Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106992"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8749,
          "referenceAllele": "G",
          "start": 8748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540043.1:c.8506G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538345.1:p.Gly2836Ser",
        "hgvsWellDefined": "XP_011538345.1:p.Gly2836Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106993"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8433,
          "referenceAllele": "G",
          "start": 8432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540044.1:c.8371G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538346.1:p.Gly2791Ser",
        "hgvsWellDefined": "XP_011538346.1:p.Gly2791Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106994"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8749,
          "referenceAllele": "G",
          "start": 8748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540045.1:c.8506G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538347.1:p.Gly2836Ser",
        "hgvsWellDefined": "XP_011538347.1:p.Gly2836Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106995"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8171,
          "referenceAllele": "G",
          "start": 8170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540046.1:c.7966G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538348.1:p.Gly2656Ser",
        "hgvsWellDefined": "XP_011538348.1:p.Gly2656Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106996"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7339,
          "referenceAllele": "G",
          "start": 7338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540047.1:c.7324G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538349.1:p.Gly2442Ser",
        "hgvsWellDefined": "XP_011538349.1:p.Gly2442Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106997"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4972,
          "referenceAllele": "G",
          "start": 4971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540052.1:c.4834G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538354.1:p.Gly1612Ser",
        "hgvsWellDefined": "XP_011538354.1:p.Gly1612Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107002"
    },
    {
      "@id": "http://reg.genome.network/allele/PA180728",
      "coordinates": [
        {
          "allele": "A",
          "end": 8715,
          "referenceAllele": "G",
          "start": 8714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NM_022124.6:c.8311G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_071407.4:p.Gly2771Ser",
        "hgvsWellDefined": "NP_071407.4:p.Gly2771Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698509",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000224721.12:c.8311G>A"
          },
          "RefSeq": {
            "hgvs": "NM_022124.6:c.8311G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000224721.9:p.Gly2771Ser"
          },
          "RefSeq": {
            "hgvs": "NP_071407.4:p.Gly2771Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}