{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA377159477",
  "communityStandardTitle": [
    "NM_022124.6(CDH23):c.4328C>G (p.Ala1443Gly)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.73498373C>G?assembly=hg19",
        "id": "chr10:g.73498373C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.71738616C>G?assembly=hg38",
        "id": "chr10:g.71738616C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1839637016",
        "rs": 1839637016
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-71738616-C-G?dataset=gnomad_r4",
        "id": "10-71738616-C-G",
        "variant": "10:71738616 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 71738616,
          "referenceAllele": "C",
          "start": 71738615
        }
      ],
      "hgvs": [
        "NC_000010.11:g.71738616C>G",
        "CM000672.2:g.71738616C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 73498373,
          "referenceAllele": "C",
          "start": 73498372
        }
      ],
      "hgvs": [
        "NC_000010.10:g.73498373C>G",
        "CM000672.1:g.73498373C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 73168379,
          "referenceAllele": "C",
          "start": 73168378
        }
      ],
      "hgvs": [
        "NC_000010.9:g.73168379C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 346670,
          "referenceAllele": "C",
          "start": 346669
        }
      ],
      "hgvs": [
        "NG_008835.1:g.346670C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001230"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4732,
          "referenceAllele": "C",
          "start": 4731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000224721.12:c.4328C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000224721.9:p.Ala1443Gly",
        "hgvsWellDefined": "ENSP00000224721.9:p.Ala1443Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740637",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000224721.12:c.4328C>G"
          },
          "RefSeq": {
            "hgvs": "NM_022124.6:c.4328C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000224721.9:p.Ala1443Gly"
          },
          "RefSeq": {
            "hgvs": "NP_071407.4:p.Ala1443Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4733,
          "referenceAllele": "C",
          "start": 4732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000224721.10:c.4343C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000224721.8:p.Ala1448Gly",
        "hgvsWellDefined": "ENSP00000224721.8:p.Ala1448Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248471"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1017,
          "referenceAllele": "C",
          "start": 1016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000398792.3:n.1017C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS278420"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4718,
          "referenceAllele": "C",
          "start": 4717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000622827.4:c.4328C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483211.1:p.Ala1443Gly",
        "hgvsWellDefined": "ENSP00000483211.1:p.Ala1443Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405902"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077342279",
      "coordinates": [
        {
          "allele": "G",
          "end": 4718,
          "referenceAllele": "C",
          "start": 4717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NM_022124.5:c.4328C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_071407.4:p.Ala1443Gly",
        "hgvsWellDefined": "NP_071407.4:p.Ala1443Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037218"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4766,
          "referenceAllele": "C",
          "start": 4765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_006717940.2:c.4523C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718003.1:p.Ala1508Gly",
        "hgvsWellDefined": "XP_006718003.1:p.Ala1508Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072393"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4700,
          "referenceAllele": "C",
          "start": 4699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_006717942.2:c.4457C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718005.1:p.Ala1486Gly",
        "hgvsWellDefined": "XP_006718005.1:p.Ala1486Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072394"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4763,
          "referenceAllele": "C",
          "start": 4762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540039.1:c.4520C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538341.1:p.Ala1507Gly",
        "hgvsWellDefined": "XP_011538341.1:p.Ala1507Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106989"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4760,
          "referenceAllele": "C",
          "start": 4759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540040.1:c.4517C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538342.1:p.Ala1506Gly",
        "hgvsWellDefined": "XP_011538342.1:p.Ala1506Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106990"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4718,
          "referenceAllele": "C",
          "start": 4717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540041.1:c.4463C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538343.1:p.Ala1488Gly",
        "hgvsWellDefined": "XP_011538343.1:p.Ala1488Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106991"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4766,
          "referenceAllele": "C",
          "start": 4765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540042.1:c.4523C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538344.1:p.Ala1508Gly",
        "hgvsWellDefined": "XP_011538344.1:p.Ala1508Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106992"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4766,
          "referenceAllele": "C",
          "start": 4765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540043.1:c.4523C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538345.1:p.Ala1508Gly",
        "hgvsWellDefined": "XP_011538345.1:p.Ala1508Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106993"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4450,
          "referenceAllele": "C",
          "start": 4449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540044.1:c.4388C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538346.1:p.Ala1463Gly",
        "hgvsWellDefined": "XP_011538346.1:p.Ala1463Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106994"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4766,
          "referenceAllele": "C",
          "start": 4765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540045.1:c.4523C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538347.1:p.Ala1508Gly",
        "hgvsWellDefined": "XP_011538347.1:p.Ala1508Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106995"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4188,
          "referenceAllele": "C",
          "start": 4187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540046.1:c.3983C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538348.1:p.Ala1328Gly",
        "hgvsWellDefined": "XP_011538348.1:p.Ala1328Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106996"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3356,
          "referenceAllele": "C",
          "start": 3355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540047.1:c.3341C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538349.1:p.Ala1114Gly",
        "hgvsWellDefined": "XP_011538349.1:p.Ala1114Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106997"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4766,
          "referenceAllele": "C",
          "start": 4765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540048.1:c.4523C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538350.1:p.Ala1508Gly",
        "hgvsWellDefined": "XP_011538350.1:p.Ala1508Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106998"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4766,
          "referenceAllele": "C",
          "start": 4765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540049.1:c.4523C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538351.1:p.Ala1508Gly",
        "hgvsWellDefined": "XP_011538351.1:p.Ala1508Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106999"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4766,
          "referenceAllele": "C",
          "start": 4765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540050.1:c.4523C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538352.1:p.Ala1508Gly",
        "hgvsWellDefined": "XP_011538352.1:p.Ala1508Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107000"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4766,
          "referenceAllele": "C",
          "start": 4765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540051.1:c.4523C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538353.1:p.Ala1508Gly",
        "hgvsWellDefined": "XP_011538353.1:p.Ala1508Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 989,
          "referenceAllele": "C",
          "start": 988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540052.1:c.851C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538354.1:p.Ala284Gly",
        "hgvsWellDefined": "XP_011538354.1:p.Ala284Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4766,
          "referenceAllele": "C",
          "start": 4765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540053.1:c.4523C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538355.1:p.Ala1508Gly",
        "hgvsWellDefined": "XP_011538355.1:p.Ala1508Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107003"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4766,
          "referenceAllele": "C",
          "start": 4765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XR_945796.1:n.4766C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS139429"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077342279",
      "coordinates": [
        {
          "allele": "G",
          "end": 4732,
          "referenceAllele": "C",
          "start": 4731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NM_022124.6:c.4328C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_071407.4:p.Ala1443Gly",
        "hgvsWellDefined": "NP_071407.4:p.Ala1443Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698509",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000224721.12:c.4328C>G"
          },
          "RefSeq": {
            "hgvs": "NM_022124.6:c.4328C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000224721.9:p.Ala1443Gly"
          },
          "RefSeq": {
            "hgvs": "NP_071407.4:p.Ala1443Gly"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}