{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA379803667",
  "communityStandardTitle": [
    "NM_153676.4(USH1C):c.2227-1G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=48027[alleleid]",
        "alleleId": 48027,
        "preferredName": "NM_153676.4(USH1C):c.2227-1G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/39428",
        "RCV": [
          "RCV000032623"
        ],
        "variationId": 39428
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.17523083C>T?assembly=hg19",
        "id": "chr11:g.17523083C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.17501536C>T?assembly=hg38",
        "id": "chr11:g.17501536C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/778110397",
        "rs": 778110397
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 17501536,
          "referenceAllele": "C",
          "start": 17501535
        }
      ],
      "hgvs": [
        "NC_000011.10:g.17501536C>T",
        "CM000673.2:g.17501536C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 17523083,
          "referenceAllele": "C",
          "start": 17523082
        }
      ],
      "hgvs": [
        "NC_000011.9:g.17523083C>T",
        "CM000673.1:g.17523083C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 17479659,
          "referenceAllele": "C",
          "start": 17479658
        }
      ],
      "hgvs": [
        "NC_000011.8:g.17479659C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 47881,
          "referenceAllele": "G",
          "start": 47880
        }
      ],
      "hgvs": [
        "NG_011883.1:g.47881G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002045"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 47881,
          "referenceAllele": "G",
          "start": 47880
        }
      ],
      "hgvs": [
        "NG_011883.2:g.47881G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673567"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2335,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2335,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012597",
      "geneNCBI_id": 10083,
      "geneSymbol": "USH1C",
      "hgvs": [
        "ENST00000005226.12:c.2227-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000005226.7:n.2227-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS739927",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000005226.12:c.2227-1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_153676.4:c.2227-1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000005226.7:n.2227-1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_710142.1:n.2227-1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1435,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1435,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012597",
      "geneNCBI_id": 10083,
      "geneSymbol": "USH1C",
      "hgvs": [
        "ENST00000318024.9:c.1327-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000317018.4:n.1327-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746185",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000318024.9:c.1327-1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_005709.4:c.1327-1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000317018.4:n.1327-1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_005700.2:n.1327-1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2226,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2226,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012597",
      "geneNCBI_id": 10083,
      "geneSymbol": "USH1C",
      "hgvs": [
        "ENST00000005226.11:c.2227-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000005226.7:n.2227-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247444"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1435,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1435,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012597",
      "geneNCBI_id": 10083,
      "geneSymbol": "USH1C",
      "hgvs": [
        "ENST00000318024.8:c.1327-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000317018.4:n.1327-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257471"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1347,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1347,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012597",
      "geneNCBI_id": 10083,
      "geneSymbol": "USH1C",
      "hgvs": [
        "ENST00000526313.5:c.*41-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432236.1:n.*41-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352201"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1362,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1362,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012597",
      "geneNCBI_id": 10083,
      "geneSymbol": "USH1C",
      "hgvs": [
        "ENST00000527020.5:c.1270-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436934.1:n.1270-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352794"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1478,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1478,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012597",
      "geneNCBI_id": 10083,
      "geneSymbol": "USH1C",
      "hgvs": [
        "ENST00000527720.5:c.1234-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432944.1:n.1234-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353373"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 210,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 210,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012597",
      "geneNCBI_id": 10083,
      "geneSymbol": "USH1C",
      "hgvs": [
        "ENST00000529563.5:n.211-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS354938"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 111,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 111,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012597",
      "geneNCBI_id": 10083,
      "geneSymbol": "USH1C",
      "hgvs": [
        "ENST00000534556.1:n.112-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS359150"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1378,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1378,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012597",
      "geneNCBI_id": 10083,
      "geneSymbol": "USH1C",
      "hgvs": [
        "NM_001297764.1:c.1270-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001284693.1:n.1270-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024769"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1435,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1435,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012597",
      "geneNCBI_id": 10083,
      "geneSymbol": "USH1C",
      "hgvs": [
        "NM_005709.3:c.1327-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005700.2:n.1327-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030789"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2335,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2335,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012597",
      "geneNCBI_id": 10083,
      "geneSymbol": "USH1C",
      "hgvs": [
        "NM_153676.3:c.2227-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_710142.1:n.2227-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042455"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1361,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1361,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012597",
      "geneNCBI_id": 10083,
      "geneSymbol": "USH1C",
      "hgvs": [
        "NR_123738.1:n.1362-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS055748"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2359,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2359,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012597",
      "geneNCBI_id": 10083,
      "geneSymbol": "USH1C",
      "hgvs": [
        "XM_011519831.1:c.2251-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518133.1:n.2251-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1588,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1588,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012597",
      "geneNCBI_id": 10083,
      "geneSymbol": "USH1C",
      "hgvs": [
        "XM_011519832.1:c.1480-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518134.1:n.1480-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1485,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1485,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012597",
      "geneNCBI_id": 10083,
      "geneSymbol": "USH1C",
      "hgvs": [
        "XM_011519833.1:c.1377-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518135.1:n.1377-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1697,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1697,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012597",
      "geneNCBI_id": 10083,
      "geneSymbol": "USH1C",
      "hgvs": [
        "XR_930841.1:n.1698-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS126968"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1638,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1638,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012597",
      "geneNCBI_id": 10083,
      "geneSymbol": "USH1C",
      "hgvs": [
        "XR_930842.1:n.1639-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS126969"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1588,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1588,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012597",
      "geneNCBI_id": 10083,
      "geneSymbol": "USH1C",
      "hgvs": [
        "XM_011519832.3:c.1480-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518134.1:n.1480-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545492"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2335,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2335,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012597",
      "geneNCBI_id": 10083,
      "geneSymbol": "USH1C",
      "hgvs": [
        "XM_017017075.1:c.2227-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016872564.1:n.2227-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569349"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1485,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1485,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012597",
      "geneNCBI_id": 10083,
      "geneSymbol": "USH1C",
      "hgvs": [
        "XR_001747717.2:n.1486-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS595856"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2335,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2335,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012597",
      "geneNCBI_id": 10083,
      "geneSymbol": "USH1C",
      "hgvs": [
        "NM_153676.4:c.2227-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_710142.1:n.2227-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672557",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000005226.12:c.2227-1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_153676.4:c.2227-1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000005226.7:n.2227-1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_710142.1:n.2227-1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1378,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1378,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012597",
      "geneNCBI_id": 10083,
      "geneSymbol": "USH1C",
      "hgvs": [
        "NM_001297764.2:c.1270-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001284693.1:n.1270-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683135"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1435,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1435,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012597",
      "geneNCBI_id": 10083,
      "geneSymbol": "USH1C",
      "hgvs": [
        "NM_005709.4:c.1327-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005700.2:n.1327-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696501",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000318024.9:c.1327-1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_005709.4:c.1327-1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000317018.4:n.1327-1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_005700.2:n.1327-1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1361,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1361,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012597",
      "geneNCBI_id": 10083,
      "geneSymbol": "USH1C",
      "hgvs": [
        "NR_123738.2:n.1362-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703227"
    }
  ],
  "type": "nucleotide"
}