{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA137324",
  "communityStandardTitle": [
    "NM_022124.6(CDH23):c.2337G>A (p.Lys779=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=55060[alleleid]",
        "alleleId": 55060,
        "preferredName": "NM_022124.6(CDH23):c.2337G>A (p.Lys779=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/45895",
        "RCV": [
          "RCV000039128",
          "RCV000270255",
          "RCV000309836",
          "RCV000888827",
          "RCV004528190",
          "RCV001831658"
        ],
        "variationId": 45895
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/10-73455222-G-A",
        "id": "10-73455222-G-A",
        "variant": "10:73455222 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.73455222G>A?assembly=hg19",
        "id": "chr10:g.73455222G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.71695465G>A?assembly=hg38",
        "id": "chr10:g.71695465G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/111033461",
        "rs": 111033461
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-73455222-G-A?dataset=gnomad_r2_1",
        "id": "10-73455222-G-A",
        "variant": "10:73455222 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-71695465-G-A?dataset=gnomad_r3",
        "id": "10-71695465-G-A",
        "variant": "10:71695465 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-71695465-G-A?dataset=gnomad_r4",
        "id": "10-71695465-G-A",
        "variant": "10:71695465 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 71695465,
          "referenceAllele": "G",
          "start": 71695464
        }
      ],
      "hgvs": [
        "NC_000010.11:g.71695465G>A",
        "CM000672.2:g.71695465G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 73455222,
          "referenceAllele": "G",
          "start": 73455221
        }
      ],
      "hgvs": [
        "NC_000010.10:g.73455222G>A",
        "CM000672.1:g.73455222G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 73125228,
          "referenceAllele": "G",
          "start": 73125227
        }
      ],
      "hgvs": [
        "NC_000010.9:g.73125228G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 303519,
          "referenceAllele": "G",
          "start": 303518
        }
      ],
      "hgvs": [
        "NG_008835.1:g.303519G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001230"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2741,
          "referenceAllele": "G",
          "start": 2740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000224721.12:c.2337G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000224721.9:p.Lys779="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740637",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000224721.12:c.2337G>A"
          },
          "RefSeq": {
            "hgvs": "NM_022124.6:c.2337G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000224721.9:p.Lys779="
          },
          "RefSeq": {
            "hgvs": "NP_071407.4:p.Lys779="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2727,
          "referenceAllele": "G",
          "start": 2726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000398809.9:c.2337G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381789.5:p.Lys779="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753788"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2337,
          "referenceAllele": "G",
          "start": 2336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000442677.4:c.2337G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388894.3:p.Lys779="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755918"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1768,
          "referenceAllele": "G",
          "start": 1767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000466757.8:c.1768G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS756880"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2742,
          "referenceAllele": "G",
          "start": 2741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000224721.10:c.2352G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000224721.8:p.Lys784="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248471"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2724,
          "referenceAllele": "G",
          "start": 2723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000299366.11:c.2337G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299366.8:p.Lys779="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254714"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2727,
          "referenceAllele": "G",
          "start": 2726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000398809.8:c.2337G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381789.5:p.Lys779="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278430"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1112,
          "referenceAllele": "G",
          "start": 1111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000442677.3:c.1112G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS296989"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1768,
          "referenceAllele": "G",
          "start": 1767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000466757.7:c.1768G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS310034"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2699,
          "referenceAllele": "G",
          "start": 2698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000616684.4:c.2337G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482036.2:p.Lys779="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403156"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2727,
          "referenceAllele": "G",
          "start": 2726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000622827.4:c.2337G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483211.1:p.Lys779="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405902"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826092305",
      "coordinates": [
        {
          "allele": "A",
          "end": 2727,
          "referenceAllele": "G",
          "start": 2726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NM_001171930.1:c.2337G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165401.1:p.Lys779="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015391"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826094816",
      "coordinates": [
        {
          "allele": "A",
          "end": 2727,
          "referenceAllele": "G",
          "start": 2726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NM_001171931.1:c.2337G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165402.1:p.Lys779="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015392"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829971467",
      "coordinates": [
        {
          "allele": "A",
          "end": 2727,
          "referenceAllele": "G",
          "start": 2726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NM_022124.5:c.2337G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_071407.4:p.Lys779="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037218"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2775,
          "referenceAllele": "G",
          "start": 2774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_006717940.2:c.2532G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718003.1:p.Lys844="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072393"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2709,
          "referenceAllele": "G",
          "start": 2708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_006717942.2:c.2466G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718005.1:p.Lys822="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072394"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2775,
          "referenceAllele": "G",
          "start": 2774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540039.1:c.2532G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538341.1:p.Lys844="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106989"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2769,
          "referenceAllele": "G",
          "start": 2768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540040.1:c.2526G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538342.1:p.Lys842="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106990"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2727,
          "referenceAllele": "G",
          "start": 2726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540041.1:c.2472G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538343.1:p.Lys824="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106991"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2775,
          "referenceAllele": "G",
          "start": 2774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540042.1:c.2532G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538344.1:p.Lys844="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106992"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2775,
          "referenceAllele": "G",
          "start": 2774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540043.1:c.2532G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538345.1:p.Lys844="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106993"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2459,
          "referenceAllele": "G",
          "start": 2458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540044.1:c.2397G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538346.1:p.Lys799="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106994"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2775,
          "referenceAllele": "G",
          "start": 2774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540045.1:c.2532G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538347.1:p.Lys844="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106995"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2197,
          "referenceAllele": "G",
          "start": 2196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540046.1:c.1992G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538348.1:p.Lys664="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106996"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1365,
          "referenceAllele": "G",
          "start": 1364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540047.1:c.1350G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538349.1:p.Lys450="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106997"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2775,
          "referenceAllele": "G",
          "start": 2774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540048.1:c.2532G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538350.1:p.Lys844="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106998"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2775,
          "referenceAllele": "G",
          "start": 2774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540049.1:c.2532G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538351.1:p.Lys844="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106999"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2775,
          "referenceAllele": "G",
          "start": 2774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540050.1:c.2532G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538352.1:p.Lys844="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107000"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2775,
          "referenceAllele": "G",
          "start": 2774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540051.1:c.2532G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538353.1:p.Lys844="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2775,
          "referenceAllele": "G",
          "start": 2774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540053.1:c.2532G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538355.1:p.Lys844="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2727,
          "referenceAllele": "G",
          "start": 2726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540054.1:c.2472G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538356.1:p.Lys824="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2775,
          "referenceAllele": "G",
          "start": 2774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XR_945796.1:n.2775G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS139429"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826092305",
      "coordinates": [
        {
          "allele": "A",
          "end": 2741,
          "referenceAllele": "G",
          "start": 2740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NM_001171930.2:c.2337G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165401.1:p.Lys779="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678723"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826094816",
      "coordinates": [
        {
          "allele": "A",
          "end": 2741,
          "referenceAllele": "G",
          "start": 2740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NM_001171931.2:c.2337G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165402.1:p.Lys779="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678724"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829971467",
      "coordinates": [
        {
          "allele": "A",
          "end": 2741,
          "referenceAllele": "G",
          "start": 2740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NM_022124.6:c.2337G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_071407.4:p.Lys779="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698509",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000224721.12:c.2337G>A"
          },
          "RefSeq": {
            "hgvs": "NM_022124.6:c.2337G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000224721.9:p.Lys779="
          },
          "RefSeq": {
            "hgvs": "NP_071407.4:p.Lys779="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}