{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1858497",
  "communityStandardTitle": [
    "NM_000122.2(ERCC3):c.618C>T (p.Ala206=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=281798[alleleid]",
        "alleleId": 281798,
        "preferredName": "NM_000122.2(ERCC3):c.618C>T (p.Ala206=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/331089",
        "RCV": [
          "RCV000330405",
          "RCV000896796"
        ],
        "variationId": 331089
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-128047304-G-A",
        "id": "2-128047304-G-A",
        "variant": "2:128047304 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.128047304G>A?assembly=hg19",
        "id": "chr2:g.128047304G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.127289728G>A?assembly=hg38",
        "id": "chr2:g.127289728G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/145830873",
        "rs": 145830873
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-128047304-G-A?dataset=gnomad_r2_1",
        "id": "2-128047304-G-A",
        "variant": "2:128047304 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-127289728-G-A?dataset=gnomad_r3",
        "id": "2-127289728-G-A",
        "variant": "2:127289728 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-127289728-G-A?dataset=gnomad_r4",
        "id": "2-127289728-G-A",
        "variant": "2:127289728 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 127289728,
          "referenceAllele": "G",
          "start": 127289727
        }
      ],
      "hgvs": [
        "NC_000002.12:g.127289728G>A",
        "CM000664.2:g.127289728G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 128047304,
          "referenceAllele": "G",
          "start": 128047303
        }
      ],
      "hgvs": [
        "NC_000002.11:g.128047304G>A",
        "CM000664.1:g.128047304G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 127763774,
          "referenceAllele": "G",
          "start": 127763773
        }
      ],
      "hgvs": [
        "NC_000002.10:g.127763774G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9449,
          "referenceAllele": "C",
          "start": 9448
        }
      ],
      "hgvs": [
        "NG_007454.1:g.9449C>T",
        "LRG_462:g.9449C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000580"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 681,
          "referenceAllele": "C",
          "start": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000285398.7:c.618C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000285398.2:p.Ala206="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743811",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000285398.7:c.618C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000122.2:c.618C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000285398.2:p.Ala206="
          },
          "RefSeq": {
            "hgvs": "NP_000113.1:p.Ala206="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1229,
          "referenceAllele": "C",
          "start": 1228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000642308.1:c.*658C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496684.1:n.*658C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766672"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 215,
          "referenceAllele": "C",
          "start": 214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000643982.1:n.215C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767574"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 493,
          "referenceAllele": "C",
          "start": 492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000644317.1:c.*107C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494012.1:n.*107C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767757"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1374,
          "referenceAllele": "C",
          "start": 1373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000645233.1:c.*830C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494116.1:n.*830C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768234"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 681,
          "referenceAllele": "C",
          "start": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000645467.1:c.618C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494889.1:p.Ala206="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768368"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 474,
          "referenceAllele": "C",
          "start": 473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000645736.1:c.474C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494545.1:p.Ala158="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768521"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1166,
          "referenceAllele": "C",
          "start": 1165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000646042.1:n.1166C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768665"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 632,
          "referenceAllele": "C",
          "start": 631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000646654.1:c.*85C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494526.1:n.*85C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768994"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 681,
          "referenceAllele": "C",
          "start": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000647169.1:c.618C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495619.1:p.Ala206="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769274"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 191,
          "referenceAllele": "C",
          "start": 190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000647496.1:c.191C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769448"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 713,
          "referenceAllele": "C",
          "start": 712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000285398.6:c.618C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000285398.2:p.Ala206="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253301"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 879,
          "referenceAllele": "C",
          "start": 878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000426778.5:c.*599C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415335.1:n.*599C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289379"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 890,
          "referenceAllele": "C",
          "start": 889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000445889.5:c.*661C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390888.1:n.*661C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS298489"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 149,
          "referenceAllele": "C",
          "start": 148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000456257.1:c.149C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS303403"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 463,
          "referenceAllele": "C",
          "start": 462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000460485.1:n.463C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS305209"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 931,
          "referenceAllele": "C",
          "start": 930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000462306.5:n.931C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS306597"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 502,
          "referenceAllele": "C",
          "start": 501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000494464.5:n.502C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331386"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825045348",
      "coordinates": [
        {
          "allele": "T",
          "end": 713,
          "referenceAllele": "C",
          "start": 712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "NM_000122.1:c.618C>T",
        "LRG_462t1:c.618C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000113.1:p.Ala206="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006184"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826882352",
      "coordinates": [
        {
          "allele": "T",
          "end": 828,
          "referenceAllele": "C",
          "start": 827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "NM_001303416.1:c.426C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001290345.1:p.Ala142="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025508"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826882676",
      "coordinates": [
        {
          "allele": "T",
          "end": 890,
          "referenceAllele": "C",
          "start": 889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "NM_001303418.1:c.426C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001290347.1:p.Ala142="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025509"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 674,
          "referenceAllele": "C",
          "start": 673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "XM_011510794.1:c.618C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509096.1:p.Ala206="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078055"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 548,
          "referenceAllele": "C",
          "start": 547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "XM_011510795.1:c.162C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509097.1:p.Ala54="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078056"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 703,
          "referenceAllele": "C",
          "start": 702
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "XM_011510794.2:c.618C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509096.1:p.Ala206="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541884"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 548,
          "referenceAllele": "C",
          "start": 547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "XM_017003583.1:c.162C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859072.1:p.Ala54="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559280"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825045348",
      "coordinates": [
        {
          "allele": "T",
          "end": 681,
          "referenceAllele": "C",
          "start": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "NM_000122.2:c.618C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000113.1:p.Ala206="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674711",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000285398.7:c.618C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000122.2:c.618C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000285398.2:p.Ala206="
          },
          "RefSeq": {
            "hgvs": "NP_000113.1:p.Ala206="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826882352",
      "coordinates": [
        {
          "allele": "T",
          "end": 878,
          "referenceAllele": "C",
          "start": 877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "NM_001303416.2:c.426C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001290345.1:p.Ala142="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683583"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826882676",
      "coordinates": [
        {
          "allele": "T",
          "end": 940,
          "referenceAllele": "C",
          "start": 939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "NM_001303418.2:c.426C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001290347.1:p.Ala142="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683584"
    }
  ],
  "type": "nucleotide"
}