{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA493689673",
  "communityStandardTitle": [
    "NM_005236.3(ERCC4):c.2157T>C (p.Thr719=)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.14041610T>C?assembly=hg19",
        "id": "chr16:g.14041610T>C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 13947753,
          "referenceAllele": "T",
          "start": 13947752
        }
      ],
      "hgvs": [
        "NC_000016.10:g.13947753T>C",
        "CM000678.2:g.13947753T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 14041610,
          "referenceAllele": "T",
          "start": 14041609
        }
      ],
      "hgvs": [
        "NC_000016.9:g.14041610T>C",
        "CM000678.1:g.14041610T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 13949111,
          "referenceAllele": "T",
          "start": 13949110
        }
      ],
      "hgvs": [
        "NC_000016.8:g.13949111T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 32597,
          "referenceAllele": "T",
          "start": 32596
        }
      ],
      "hgvs": [
        "NG_011442.1:g.32597T>C",
        "LRG_463:g.32597T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001720"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2323,
          "referenceAllele": "T",
          "start": 2322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000682617.1:c.2295T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507912.1:p.Thr765="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827606"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2277,
          "referenceAllele": "T",
          "start": 2276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000683962.1:c.*1851T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506854.1:n.*1851T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828925"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2169,
          "referenceAllele": "T",
          "start": 2168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000311895.8:c.2157T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310520.7:p.Thr719="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745755",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311895.8:c.2157T>C"
          },
          "RefSeq": {
            "hgvs": "NM_005236.3:c.2157T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310520.7:p.Thr719="
          },
          "RefSeq": {
            "hgvs": "NP_005227.1:p.Thr719="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2166,
          "referenceAllele": "T",
          "start": 2165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000311895.7:c.2157T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310520.7:p.Thr719="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256598"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1434,
          "referenceAllele": "T",
          "start": 1433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000389138.7:n.1434T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS274156"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 470,
          "referenceAllele": "T",
          "start": 469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000462862.1:c.470T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461322.1:n.470T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS307027"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083202144",
      "coordinates": [
        {
          "allele": "C",
          "end": 2166,
          "referenceAllele": "T",
          "start": 2165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "NM_005236.2:c.2157T>C",
        "LRG_463t1:c.2157T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005227.1:p.Thr719="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030348"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2316,
          "referenceAllele": "T",
          "start": 2315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522424.1:c.2295T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520726.1:p.Thr765="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089576"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2849,
          "referenceAllele": "T",
          "start": 2848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522425.1:c.1614T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520727.1:p.Thr538="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089577"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1465,
          "referenceAllele": "T",
          "start": 1464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522426.1:c.1368T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520728.1:p.Thr456="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089578"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1303,
          "referenceAllele": "T",
          "start": 1302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522427.1:c.807T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520729.1:p.Thr269="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089579"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2316,
          "referenceAllele": "T",
          "start": 2315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XR_932805.1:n.2316T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128721"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2324,
          "referenceAllele": "T",
          "start": 2323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522424.3:c.2295T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520726.1:p.Thr765="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546577"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2288,
          "referenceAllele": "T",
          "start": 2287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_017023043.2:c.1368T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878532.1:p.Thr456="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573869"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083202144",
      "coordinates": [
        {
          "allele": "C",
          "end": 2169,
          "referenceAllele": "T",
          "start": 2168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "NM_005236.3:c.2157T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005227.1:p.Thr719="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696357",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311895.8:c.2157T>C"
          },
          "RefSeq": {
            "hgvs": "NM_005236.3:c.2157T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310520.7:p.Thr719="
          },
          "RefSeq": {
            "hgvs": "NP_005227.1:p.Thr719="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}