{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1346950688",
  "communityStandardTitle": [
    "NM_004628.5(XPC):c.2262C= (p.Asn754=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/749938820",
        "rs": 749938820
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/786205206",
        "rs": 786205206
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 14148720,
          "referenceAllele": "G",
          "start": 14148719
        }
      ],
      "hgvs": [
        "NC_000003.12:g.14148720G=",
        "CM000665.2:g.14148720G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 14190220,
          "referenceAllele": "G",
          "start": 14190219
        }
      ],
      "hgvs": [
        "NC_000003.11:g.14190220G=",
        "CM000665.1:g.14190220G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 14165221,
          "referenceAllele": "G",
          "start": 14165220
        }
      ],
      "hgvs": [
        "NC_000003.10:g.14165221G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 34953,
          "referenceAllele": "C",
          "start": 34952
        }
      ],
      "hgvs": [
        "NG_011763.1:g.34953C=",
        "LRG_472:g.34953C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001956"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2295,
          "referenceAllele": "C",
          "start": 2294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "ENST00000285021.12:c.2262C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000285021.8:p.Asn754="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743792",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000285021.12:c.2262C="
          },
          "RefSeq": {
            "hgvs": "NM_004628.5:c.2262C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000285021.8:p.Asn754="
          },
          "RefSeq": {
            "hgvs": "NP_004619.3:p.Asn754="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2477,
          "referenceAllele": "C",
          "start": 2476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "ENST00000285021.11:c.2262C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000285021.7:p.Asn754="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253275"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 127,
          "referenceAllele": "C",
          "start": 126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "ENST00000427795.2:n.127C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS289880"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2171,
          "referenceAllele": "C",
          "start": 2170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "ENST00000476581.6:c.*1715C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424548.1:n.*1715C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS317599"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829557038",
      "coordinates": [
        {
          "allele": "C",
          "end": 2366,
          "referenceAllele": "C",
          "start": 2365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "NM_004628.4:c.2262C=",
        "LRG_472t1:c.2262C="
      ],
      "proteinEffect": {
        "hgvs": "NP_004619.3:p.Asn754="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029783"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2242,
          "referenceAllele": "C",
          "start": 2241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "NR_027299.1:n.2242C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS047665"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2323,
          "referenceAllele": "C",
          "start": 2322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "XM_011534092.1:c.2262C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011532394.1:p.Asn754="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101110"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827927335",
      "coordinates": [
        {
          "allele": "C",
          "end": 2242,
          "referenceAllele": "C",
          "start": 2241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "NM_001354726.1:c.1683C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341655.1:p.Asn561="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522642"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827927862",
      "coordinates": [
        {
          "allele": "C",
          "end": 2360,
          "referenceAllele": "C",
          "start": 2359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "NM_001354727.1:c.2256C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341656.1:p.Asn752="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522643"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827928417",
      "coordinates": [
        {
          "allele": "C",
          "end": 2348,
          "referenceAllele": "C",
          "start": 2347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "NM_001354729.1:c.2244C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341658.1:p.Asn748="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522644"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827928931",
      "coordinates": [
        {
          "allele": "C",
          "end": 2120,
          "referenceAllele": "C",
          "start": 2119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "NM_001354730.1:c.2016C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341659.1:p.Asn672="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522645"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2205,
          "referenceAllele": "C",
          "start": 2204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "NR_148950.1:n.2205C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531398"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2081,
          "referenceAllele": "C",
          "start": 2080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "NR_148951.1:n.2081C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531399"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2295,
          "referenceAllele": "C",
          "start": 2294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "XR_001740256.2:n.2295C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS590467"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2295,
          "referenceAllele": "C",
          "start": 2294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "XR_002959580.1:n.2295C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605512"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3912,
          "referenceAllele": "C",
          "start": 3911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "XR_002959581.1:n.3912C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605513"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827927862",
      "coordinates": [
        {
          "allele": "C",
          "end": 2289,
          "referenceAllele": "C",
          "start": 2288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "NM_001354727.2:c.2256C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341656.1:p.Asn752="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690308"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829557038",
      "coordinates": [
        {
          "allele": "C",
          "end": 2295,
          "referenceAllele": "C",
          "start": 2294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "NM_004628.5:c.2262C="
      ],
      "proteinEffect": {
        "hgvs": "NP_004619.3:p.Asn754="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696195",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000285021.12:c.2262C="
          },
          "RefSeq": {
            "hgvs": "NM_004628.5:c.2262C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000285021.8:p.Asn754="
          },
          "RefSeq": {
            "hgvs": "NP_004619.3:p.Asn754="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2134,
          "referenceAllele": "C",
          "start": 2133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "NR_148950.2:n.2134C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704894"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2010,
          "referenceAllele": "C",
          "start": 2009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "NR_148951.2:n.2010C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704895"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827927335",
      "coordinates": [
        {
          "allele": "C",
          "end": 2171,
          "referenceAllele": "C",
          "start": 2170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "NM_001354726.2:c.1683C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341655.1:p.Asn561="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720554"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827928417",
      "coordinates": [
        {
          "allele": "C",
          "end": 2277,
          "referenceAllele": "C",
          "start": 2276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "NM_001354729.2:c.2244C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341658.1:p.Asn748="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720555"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827928931",
      "coordinates": [
        {
          "allele": "C",
          "end": 2049,
          "referenceAllele": "C",
          "start": 2048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "NM_001354730.2:c.2016C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341659.1:p.Asn672="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720556"
    }
  ],
  "type": "nucleotide"
}