{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA351537633",
  "communityStandardTitle": [
    "NM_004628.5(XPC):c.2421-2A>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2835496[alleleid]",
        "alleleId": 2835496,
        "preferredName": "NM_004628.5(XPC):c.2421-2A>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2679648",
        "RCV": [
          "RCV003466567"
        ],
        "variationId": 2679648
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.14189503T>C?assembly=hg19",
        "id": "chr3:g.14189503T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.14148003T>C?assembly=hg38",
        "id": "chr3:g.14148003T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2470222942",
        "rs": 2470222942
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-14148003-T-C?dataset=gnomad_r4",
        "id": "3-14148003-T-C",
        "variant": "3:14148003 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 14148003,
          "referenceAllele": "T",
          "start": 14148002
        }
      ],
      "hgvs": [
        "NC_000003.12:g.14148003T>C",
        "CM000665.2:g.14148003T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 14189503,
          "referenceAllele": "T",
          "start": 14189502
        }
      ],
      "hgvs": [
        "NC_000003.11:g.14189503T>C",
        "CM000665.1:g.14189503T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 14164504,
          "referenceAllele": "T",
          "start": 14164503
        }
      ],
      "hgvs": [
        "NC_000003.10:g.14164504T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 35670,
          "referenceAllele": "A",
          "start": 35669
        }
      ],
      "hgvs": [
        "NG_011763.1:g.35670A>G",
        "LRG_472:g.35670A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001956"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2453,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2453,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "ENST00000285021.12:c.2421-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000285021.8:n.2421-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743792",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000285021.12:c.2421-2A>G"
          },
          "RefSeq": {
            "hgvs": "NM_004628.5:c.2421-2A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000285021.8:n.2421-2A>G"
          },
          "RefSeq": {
            "hgvs": "NP_004619.3:n.2421-2A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2635,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2635,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "ENST00000285021.11:c.2421-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000285021.7:n.2421-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253275"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 285,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 285,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "ENST00000427795.2:n.286-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS289880"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2329,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2329,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "ENST00000476581.6:c.*1874-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424548.1:n.*1874-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS317599"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 742,
          "referenceAllele": "T",
          "start": 741
        }
      ],
      "hgvs": [
        "ENST00000601399.3:n.742T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS397713"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 651,
          "referenceAllele": "T",
          "start": 650
        }
      ],
      "hgvs": [
        "ENST00000608606.1:c.651T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS400067"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 637,
          "referenceAllele": "T",
          "start": 636
        }
      ],
      "hgvs": [
        "ENST00000626721.1:n.637T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS406781"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2524,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2524,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "NM_004628.4:c.2421-2A>G",
        "LRG_472t1:c.2421-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004619.3:n.2421-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029783"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2400,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2400,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "NR_027299.1:n.2401-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS047665"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2481,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2481,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "XM_011534092.1:c.2421-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532394.1:n.2421-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101110"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2400,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2400,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "NM_001354726.1:c.1842-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341655.1:n.1842-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522642"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2518,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2518,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "NM_001354727.1:c.2415-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341656.1:n.2415-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522643"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2506,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2506,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "NM_001354729.1:c.2403-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341658.1:n.2403-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522644"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2278,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2278,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "NM_001354730.1:c.2175-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341659.1:n.2175-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522645"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2363,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2363,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "NR_148950.1:n.2364-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531398"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2239,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2239,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "NR_148951.1:n.2240-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531399"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2453,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2453,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "XR_001740256.2:n.2454-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS590467"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2453,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2453,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "XR_002959580.1:n.2454-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605512"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4070,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 4070,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "XR_002959581.1:n.4071-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605513"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2447,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2447,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "NM_001354727.2:c.2415-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341656.1:n.2415-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690308"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2453,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2453,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "NM_004628.5:c.2421-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004619.3:n.2421-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696195",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000285021.12:c.2421-2A>G"
          },
          "RefSeq": {
            "hgvs": "NM_004628.5:c.2421-2A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000285021.8:n.2421-2A>G"
          },
          "RefSeq": {
            "hgvs": "NP_004619.3:n.2421-2A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2292,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2292,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "NR_148950.2:n.2293-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704894"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2168,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2168,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "NR_148951.2:n.2169-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704895"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2329,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2329,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "NM_001354726.2:c.1842-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341655.1:n.1842-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720554"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2435,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2435,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "NM_001354729.2:c.2403-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341658.1:n.2403-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720555"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2207,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2207,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "NM_001354730.2:c.2175-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341659.1:n.2175-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720556"
    }
  ],
  "type": "nucleotide"
}