{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA377154715",
  "communityStandardTitle": [
    "NM_022124.6(CDH23):c.6389C>T (p.Ala2130Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1384967[alleleid]",
        "alleleId": 1384967,
        "preferredName": "NM_022124.6(CDH23):c.6389C>T (p.Ala2130Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1444877",
        "RCV": [
          "RCV001956020"
        ],
        "variationId": 1444877
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.73553074C>T?assembly=hg19",
        "id": "chr10:g.73553074C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.71793317C>T?assembly=hg38",
        "id": "chr10:g.71793317C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2132953541",
        "rs": 2132953541
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 71793317,
          "referenceAllele": "C",
          "start": 71793316
        }
      ],
      "hgvs": [
        "NC_000010.11:g.71793317C>T",
        "CM000672.2:g.71793317C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 73553074,
          "referenceAllele": "C",
          "start": 73553073
        }
      ],
      "hgvs": [
        "NC_000010.10:g.73553074C>T",
        "CM000672.1:g.73553074C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 73223080,
          "referenceAllele": "C",
          "start": 73223079
        }
      ],
      "hgvs": [
        "NC_000010.9:g.73223080C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 401371,
          "referenceAllele": "C",
          "start": 401370
        }
      ],
      "hgvs": [
        "NG_008835.1:g.401371C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001230"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6793,
          "referenceAllele": "C",
          "start": 6792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000224721.12:c.6389C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000224721.9:p.Ala2130Val",
        "hgvsWellDefined": "ENSP00000224721.9:p.Ala2130Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740637",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000224721.12:c.6389C>T"
          },
          "RefSeq": {
            "hgvs": "NM_022124.6:c.6389C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000224721.9:p.Ala2130Val"
          },
          "RefSeq": {
            "hgvs": "NP_071407.4:p.Ala2130Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6794,
          "referenceAllele": "C",
          "start": 6793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000224721.10:c.6404C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000224721.8:p.Ala2135Val",
        "hgvsWellDefined": "ENSP00000224721.8:p.Ala2135Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248471"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6779,
          "referenceAllele": "C",
          "start": 6778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000622827.4:c.6389C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483211.1:p.Ala2130Val",
        "hgvsWellDefined": "ENSP00000483211.1:p.Ala2130Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405902"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573282021",
      "coordinates": [
        {
          "allele": "T",
          "end": 6779,
          "referenceAllele": "C",
          "start": 6778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NM_022124.5:c.6389C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_071407.4:p.Ala2130Val",
        "hgvsWellDefined": "NP_071407.4:p.Ala2130Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037218"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6827,
          "referenceAllele": "C",
          "start": 6826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_006717940.2:c.6584C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718003.1:p.Ala2195Val",
        "hgvsWellDefined": "XP_006718003.1:p.Ala2195Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072393"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6761,
          "referenceAllele": "C",
          "start": 6760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_006717942.2:c.6518C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718005.1:p.Ala2173Val",
        "hgvsWellDefined": "XP_006718005.1:p.Ala2173Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072394"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6824,
          "referenceAllele": "C",
          "start": 6823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540039.1:c.6581C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538341.1:p.Ala2194Val",
        "hgvsWellDefined": "XP_011538341.1:p.Ala2194Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106989"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6821,
          "referenceAllele": "C",
          "start": 6820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540040.1:c.6578C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538342.1:p.Ala2193Val",
        "hgvsWellDefined": "XP_011538342.1:p.Ala2193Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106990"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6779,
          "referenceAllele": "C",
          "start": 6778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540041.1:c.6524C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538343.1:p.Ala2175Val",
        "hgvsWellDefined": "XP_011538343.1:p.Ala2175Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106991"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6820,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 6820,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540042.1:c.6577+7C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538344.1:n.6577+7C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106992"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6827,
          "referenceAllele": "C",
          "start": 6826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540043.1:c.6584C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538345.1:p.Ala2195Val",
        "hgvsWellDefined": "XP_011538345.1:p.Ala2195Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106993"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6511,
          "referenceAllele": "C",
          "start": 6510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540044.1:c.6449C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538346.1:p.Ala2150Val",
        "hgvsWellDefined": "XP_011538346.1:p.Ala2150Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106994"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6827,
          "referenceAllele": "C",
          "start": 6826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540045.1:c.6584C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538347.1:p.Ala2195Val",
        "hgvsWellDefined": "XP_011538347.1:p.Ala2195Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106995"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6249,
          "referenceAllele": "C",
          "start": 6248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540046.1:c.6044C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538348.1:p.Ala2015Val",
        "hgvsWellDefined": "XP_011538348.1:p.Ala2015Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106996"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5417,
          "referenceAllele": "C",
          "start": 5416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540047.1:c.5402C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538349.1:p.Ala1801Val",
        "hgvsWellDefined": "XP_011538349.1:p.Ala1801Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106997"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6827,
          "referenceAllele": "C",
          "start": 6826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540048.1:c.6584C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538350.1:p.Ala2195Val",
        "hgvsWellDefined": "XP_011538350.1:p.Ala2195Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106998"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6827,
          "referenceAllele": "C",
          "start": 6826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540049.1:c.6584C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538351.1:p.Ala2195Val",
        "hgvsWellDefined": "XP_011538351.1:p.Ala2195Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106999"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6827,
          "referenceAllele": "C",
          "start": 6826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540050.1:c.6584C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538352.1:p.Ala2195Val",
        "hgvsWellDefined": "XP_011538352.1:p.Ala2195Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107000"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6827,
          "referenceAllele": "C",
          "start": 6826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540051.1:c.6584C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538353.1:p.Ala2195Val",
        "hgvsWellDefined": "XP_011538353.1:p.Ala2195Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3050,
          "referenceAllele": "C",
          "start": 3049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540052.1:c.2912C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538354.1:p.Ala971Val",
        "hgvsWellDefined": "XP_011538354.1:p.Ala971Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6827,
          "referenceAllele": "C",
          "start": 6826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XR_945796.1:n.6827C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS139429"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573282021",
      "coordinates": [
        {
          "allele": "T",
          "end": 6793,
          "referenceAllele": "C",
          "start": 6792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NM_022124.6:c.6389C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_071407.4:p.Ala2130Val",
        "hgvsWellDefined": "NP_071407.4:p.Ala2130Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698509",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000224721.12:c.6389C>T"
          },
          "RefSeq": {
            "hgvs": "NM_022124.6:c.6389C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000224721.9:p.Ala2130Val"
          },
          "RefSeq": {
            "hgvs": "NP_071407.4:p.Ala2130Val"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}