{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2267222",
  "communityStandardTitle": [
    "NM_004628.5(XPC):c.2250+6G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=759237[alleleid]",
        "alleleId": 759237,
        "preferredName": "NM_004628.5(XPC):c.2250+6G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/738187",
        "RCV": [
          "RCV000914044",
          "RCV001146335",
          "RCV002258039"
        ],
        "variationId": 738187
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/3-14190308-C-T",
        "id": "3-14190308-C-T",
        "variant": "3:14190308 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.14190308C>T?assembly=hg19",
        "id": "chr3:g.14190308C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.14148808C>T?assembly=hg38",
        "id": "chr3:g.14148808C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/201446851",
        "rs": 201446851
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-14190308-C-T?dataset=gnomad_r2_1",
        "id": "3-14190308-C-T",
        "variant": "3:14190308 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-14148808-C-T?dataset=gnomad_r3",
        "id": "3-14148808-C-T",
        "variant": "3:14148808 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-14148808-C-T?dataset=gnomad_r4",
        "id": "3-14148808-C-T",
        "variant": "3:14148808 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 14148808,
          "referenceAllele": "C",
          "start": 14148807
        }
      ],
      "hgvs": [
        "NC_000003.12:g.14148808C>T",
        "CM000665.2:g.14148808C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 14190308,
          "referenceAllele": "C",
          "start": 14190307
        }
      ],
      "hgvs": [
        "NC_000003.11:g.14190308C>T",
        "CM000665.1:g.14190308C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 14165309,
          "referenceAllele": "C",
          "start": 14165308
        }
      ],
      "hgvs": [
        "NC_000003.10:g.14165309C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 34865,
          "referenceAllele": "G",
          "start": 34864
        }
      ],
      "hgvs": [
        "NG_011763.1:g.34865G>A",
        "LRG_472:g.34865G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001956"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2283,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 2283,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "ENST00000285021.12:c.2250+6G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000285021.8:n.2250+6G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743792",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000285021.12:c.2250+6G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004628.5:c.2250+6G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000285021.8:n.2250+6G>A"
          },
          "RefSeq": {
            "hgvs": "NP_004619.3:n.2250+6G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2465,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 2465,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "ENST00000285021.11:c.2250+6G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000285021.7:n.2250+6G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253275"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 115,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 115,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "ENST00000427795.2:n.115+6G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS289880"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2159,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 2159,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "ENST00000476581.6:c.*1703+6G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424548.1:n.*1703+6G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS317599"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2354,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 2354,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "NM_004628.4:c.2250+6G>A",
        "LRG_472t1:c.2250+6G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004619.3:n.2250+6G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029783"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2230,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 2230,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "NR_027299.1:n.2230+6G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS047665"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2311,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 2311,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "XM_011534092.1:c.2250+6G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532394.1:n.2250+6G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101110"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2230,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 2230,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "NM_001354726.1:c.1671+6G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341655.1:n.1671+6G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522642"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2348,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 2348,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "NM_001354727.1:c.2244+6G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341656.1:n.2244+6G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522643"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2336,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 2336,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "NM_001354729.1:c.2232+6G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341658.1:n.2232+6G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522644"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2108,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 2108,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "NM_001354730.1:c.2004+6G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341659.1:n.2004+6G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522645"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2193,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 2193,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "NR_148950.1:n.2193+6G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531398"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2069,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 2069,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "NR_148951.1:n.2069+6G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531399"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2283,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 2283,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "XR_001740256.2:n.2283+6G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS590467"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2283,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 2283,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "XR_002959580.1:n.2283+6G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605512"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3900,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 3900,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "XR_002959581.1:n.3900+6G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605513"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2277,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 2277,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "NM_001354727.2:c.2244+6G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341656.1:n.2244+6G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690308"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2283,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 2283,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "NM_004628.5:c.2250+6G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004619.3:n.2250+6G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696195",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000285021.12:c.2250+6G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004628.5:c.2250+6G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000285021.8:n.2250+6G>A"
          },
          "RefSeq": {
            "hgvs": "NP_004619.3:n.2250+6G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2122,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 2122,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "NR_148950.2:n.2122+6G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704894"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1998,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 1998,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "NR_148951.2:n.1998+6G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704895"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2159,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 2159,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "NM_001354726.2:c.1671+6G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341655.1:n.1671+6G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720554"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2265,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 2265,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "NM_001354729.2:c.2232+6G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341658.1:n.2232+6G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720555"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2037,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 2037,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "NM_001354730.2:c.2004+6G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341659.1:n.2004+6G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720556"
    }
  ],
  "type": "nucleotide"
}