{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA257543",
  "communityStandardTitle": [
    "NM_000122.2(ERCC3):c.296T>C (p.Phe99Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=31622[alleleid]",
        "alleleId": 31622,
        "preferredName": "NM_000122.2(ERCC3):c.296T>C (p.Phe99Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/16583",
        "RCV": [
          "RCV000018051"
        ],
        "variationId": 16583
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.128050361A>G?assembly=hg19",
        "id": "chr2:g.128050361A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.127292785A>G?assembly=hg38",
        "id": "chr2:g.127292785A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121913045",
        "rs": 121913045
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-128050361-A-G?dataset=gnomad_r2_1",
        "id": "2-128050361-A-G",
        "variant": "2:128050361 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-127292785-A-G?dataset=gnomad_r4",
        "id": "2-127292785-A-G",
        "variant": "2:127292785 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 127292785,
          "referenceAllele": "A",
          "start": 127292784
        }
      ],
      "hgvs": [
        "NC_000002.12:g.127292785A>G",
        "CM000664.2:g.127292785A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 128050361,
          "referenceAllele": "A",
          "start": 128050360
        }
      ],
      "hgvs": [
        "NC_000002.11:g.128050361A>G",
        "CM000664.1:g.128050361A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 127766831,
          "referenceAllele": "A",
          "start": 127766830
        }
      ],
      "hgvs": [
        "NC_000002.10:g.127766831A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6392,
          "referenceAllele": "T",
          "start": 6391
        }
      ],
      "hgvs": [
        "NG_007454.1:g.6392T>C",
        "LRG_462:g.6392T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000580"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 359,
          "referenceAllele": "T",
          "start": 358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000285398.7:c.296T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000285398.2:p.Phe99Ser",
        "hgvsWellDefined": "ENSP00000285398.2:p.Phe99Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743811",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000285398.7:c.296T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000122.2:c.296T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000285398.2:p.Phe99Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000113.1:p.Phe99Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 381,
          "referenceAllele": "T",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000642308.1:c.296T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496684.1:p.Phe99Ser",
        "hgvsWellDefined": "ENSP00000496684.1:p.Phe99Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766672"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 251,
          "endIntronDirection": "-",
          "endIntronOffset": 80,
          "referenceAllele": "T",
          "start": 251,
          "startIntronDirection": "-",
          "startIntronOffset": 81
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000644317.1:c.235-81T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494012.1:n.235-81T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767757"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 354,
          "referenceAllele": "T",
          "start": 353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000645233.1:c.296T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494116.1:p.Phe99Ser",
        "hgvsWellDefined": "ENSP00000494116.1:p.Phe99Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768234"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 359,
          "referenceAllele": "T",
          "start": 358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000645467.1:c.296T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494889.1:p.Phe99Ser",
        "hgvsWellDefined": "ENSP00000494889.1:p.Phe99Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768368"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 152,
          "referenceAllele": "T",
          "start": 151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000645736.1:c.152T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494545.1:p.Phe51Ser",
        "hgvsWellDefined": "ENSP00000494545.1:p.Phe51Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768521"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 360,
          "referenceAllele": "T",
          "start": 359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000646654.1:c.296T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494526.1:p.Phe99Ser",
        "hgvsWellDefined": "ENSP00000494526.1:p.Phe99Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768994"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 359,
          "referenceAllele": "T",
          "start": 358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000647169.1:c.296T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495619.1:p.Phe99Ser",
        "hgvsWellDefined": "ENSP00000495619.1:p.Phe99Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769274"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 391,
          "referenceAllele": "T",
          "start": 390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000285398.6:c.296T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000285398.2:p.Phe99Ser",
        "hgvsWellDefined": "ENSP00000285398.2:p.Phe99Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253301"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 557,
          "referenceAllele": "T",
          "start": 556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000426778.5:c.*277T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415335.1:n.*277T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289379"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 568,
          "referenceAllele": "T",
          "start": 567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000445889.5:c.*339T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390888.1:n.*339T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS298489"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 290,
          "endIntronDirection": "-",
          "endIntronOffset": 80,
          "referenceAllele": "T",
          "start": 290,
          "startIntronDirection": "-",
          "startIntronOffset": 81
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000462306.5:n.291-81T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS306597"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 306,
          "endIntronDirection": "-",
          "endIntronOffset": 80,
          "referenceAllele": "T",
          "start": 306,
          "startIntronDirection": "-",
          "startIntronOffset": 81
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000490062.1:n.307-81T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327980"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 260,
          "endIntronDirection": "-",
          "endIntronOffset": 80,
          "referenceAllele": "T",
          "start": 260,
          "startIntronDirection": "-",
          "startIntronOffset": 81
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000494464.5:n.261-81T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331386"
    },
    {
      "@id": "http://reg.genome.network/allele/PA102540",
      "coordinates": [
        {
          "allele": "C",
          "end": 391,
          "referenceAllele": "T",
          "start": 390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "NM_000122.1:c.296T>C",
        "LRG_462t1:c.296T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000113.1:p.Phe99Ser",
        "hgvsWellDefined": "NP_000113.1:p.Phe99Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006184"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826882302",
      "coordinates": [
        {
          "allele": "C",
          "end": 506,
          "referenceAllele": "T",
          "start": 505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "NM_001303416.1:c.104T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001290345.1:p.Phe35Ser",
        "hgvsWellDefined": "NP_001290345.1:p.Phe35Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025508"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826882648",
      "coordinates": [
        {
          "allele": "C",
          "end": 568,
          "referenceAllele": "T",
          "start": 567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "NM_001303418.1:c.104T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001290347.1:p.Phe35Ser",
        "hgvsWellDefined": "NP_001290347.1:p.Phe35Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025509"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 352,
          "referenceAllele": "T",
          "start": 351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "XM_011510794.1:c.296T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509096.1:p.Phe99Ser",
        "hgvsWellDefined": "XP_011509096.1:p.Phe99Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078055"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 306,
          "endIntronDirection": "-",
          "endIntronOffset": 80,
          "referenceAllele": "T",
          "start": 306,
          "startIntronDirection": "-",
          "startIntronOffset": 81
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "XM_011510795.1:c.-80-81T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509097.1:n.-80-81T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078056"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 381,
          "referenceAllele": "T",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "XM_011510794.2:c.296T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509096.1:p.Phe99Ser",
        "hgvsWellDefined": "XP_011509096.1:p.Phe99Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541884"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 306,
          "endIntronDirection": "-",
          "endIntronOffset": 80,
          "referenceAllele": "T",
          "start": 306,
          "startIntronDirection": "-",
          "startIntronOffset": 81
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "XM_017003583.1:c.-80-81T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859072.1:n.-80-81T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559280"
    },
    {
      "@id": "http://reg.genome.network/allele/PA102540",
      "coordinates": [
        {
          "allele": "C",
          "end": 359,
          "referenceAllele": "T",
          "start": 358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "NM_000122.2:c.296T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000113.1:p.Phe99Ser",
        "hgvsWellDefined": "NP_000113.1:p.Phe99Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674711",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000285398.7:c.296T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000122.2:c.296T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000285398.2:p.Phe99Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000113.1:p.Phe99Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826882302",
      "coordinates": [
        {
          "allele": "C",
          "end": 556,
          "referenceAllele": "T",
          "start": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "NM_001303416.2:c.104T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001290345.1:p.Phe35Ser",
        "hgvsWellDefined": "NP_001290345.1:p.Phe35Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683583"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826882648",
      "coordinates": [
        {
          "allele": "C",
          "end": 618,
          "referenceAllele": "T",
          "start": 617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "NM_001303418.2:c.104T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001290347.1:p.Phe35Ser",
        "hgvsWellDefined": "NP_001290347.1:p.Phe35Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683584"
    }
  ],
  "type": "nucleotide"
}