{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA090900",
  "communityStandardTitle": [
    "NM_000124.4(ERCC6):c.3289A>G (p.Met1097Val)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM3751837"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=134462[alleleid]",
        "alleleId": 134462,
        "preferredName": "NM_000124.4(ERCC6):c.3289A>G (p.Met1097Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/129016",
        "RCV": [
          "RCV000116997",
          "RCV000287947",
          "RCV000378942",
          "RCV000322054",
          "RCV001519186"
        ],
        "variationId": 129016
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/10-50678717-T-C",
        "id": "10-50678717-T-C",
        "variant": "10:50678717 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.50678717T>C?assembly=hg19",
        "id": "chr10:g.50678717T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.49470671T>C?assembly=hg38",
        "id": "chr10:g.49470671T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2228526",
        "rs": 2228526
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-50678717-T-C?dataset=gnomad_r2_1",
        "id": "10-50678717-T-C",
        "variant": "10:50678717 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-49470671-T-C?dataset=gnomad_r3",
        "id": "10-49470671-T-C",
        "variant": "10:49470671 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-49470671-T-C?dataset=gnomad_r4",
        "id": "10-49470671-T-C",
        "variant": "10:49470671 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 49470671,
          "referenceAllele": "T",
          "start": 49470670
        }
      ],
      "hgvs": [
        "NC_000010.11:g.49470671T>C",
        "CM000672.2:g.49470671T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 50678717,
          "referenceAllele": "T",
          "start": 50678716
        }
      ],
      "hgvs": [
        "NC_000010.10:g.50678717T>C",
        "CM000672.1:g.50678717T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 50348723,
          "referenceAllele": "T",
          "start": 50348722
        }
      ],
      "hgvs": [
        "NC_000010.9:g.50348723T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 73431,
          "referenceAllele": "A",
          "start": 73430
        }
      ],
      "hgvs": [
        "NG_009442.1:g.73431A>G",
        "LRG_465:g.73431A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001594"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3463,
          "referenceAllele": "A",
          "start": 3462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003438",
      "geneNCBI_id": 2074,
      "geneSymbol": "ERCC6",
      "hgvs": [
        "ENST00000355832.10:c.3289A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348089.5:p.Met1097Val",
        "hgvsWellDefined": "ENSP00000348089.5:p.Met1097Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748723",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355832.10:c.3289A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000124.4:c.3289A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348089.5:p.Met1097Val"
          },
          "RefSeq": {
            "hgvs": "NP_000115.1:p.Met1097Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 360,
          "referenceAllele": "A",
          "start": 359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003438",
      "geneNCBI_id": 2074,
      "geneSymbol": "ERCC6",
      "hgvs": [
        "ENST00000679552.1:n.360A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779181"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 435,
          "referenceAllele": "A",
          "start": 434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003438",
      "geneNCBI_id": 2074,
      "geneSymbol": "ERCC6",
      "hgvs": [
        "ENST00000679871.1:n.435A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779493"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 338,
          "referenceAllele": "A",
          "start": 337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003438",
      "geneNCBI_id": 2074,
      "geneSymbol": "ERCC6",
      "hgvs": [
        "ENST00000679974.1:n.338A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779596"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4692,
          "referenceAllele": "A",
          "start": 4691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003438",
      "geneNCBI_id": 2074,
      "geneSymbol": "ERCC6",
      "hgvs": [
        "ENST00000681632.1:n.4692A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS781238"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3234,
          "referenceAllele": "A",
          "start": 3233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003438",
      "geneNCBI_id": 2074,
      "geneSymbol": "ERCC6",
      "hgvs": [
        "ENST00000681659.1:c.3130A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505631.1:p.Met1044Val",
        "hgvsWellDefined": "ENSP00000505631.1:p.Met1044Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781265"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3368,
          "referenceAllele": "A",
          "start": 3367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003438",
      "geneNCBI_id": 2074,
      "geneSymbol": "ERCC6",
      "hgvs": [
        "ENST00000355832.9:c.3289A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348089.5:p.Met1097Val",
        "hgvsWellDefined": "ENSP00000348089.5:p.Met1097Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263566"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7673,
          "referenceAllele": "A",
          "start": 7672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003438",
      "geneNCBI_id": 2074,
      "geneSymbol": "ERCC6",
      "hgvs": [
        "ENST00000623073.3:c.*1585A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485650.1:n.*1585A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405990"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1712,
          "referenceAllele": "A",
          "start": 1711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003438",
      "geneNCBI_id": 2074,
      "geneSymbol": "ERCC6",
      "hgvs": [
        "ENST00000623115.3:c.1399A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485321.1:p.Met467Val",
        "hgvsWellDefined": "ENSP00000485321.1:p.Met467Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405998"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1121,
          "referenceAllele": "A",
          "start": 1120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003438",
      "geneNCBI_id": 2074,
      "geneSymbol": "ERCC6",
      "hgvs": [
        "ENST00000624341.3:c.1121A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS406305"
    },
    {
      "@id": "http://reg.genome.network/allele/PA152784",
      "coordinates": [
        {
          "allele": "G",
          "end": 3465,
          "referenceAllele": "A",
          "start": 3464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003438",
      "geneNCBI_id": 2074,
      "geneSymbol": "ERCC6",
      "hgvs": [
        "NM_000124.3:c.3289A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000115.1:p.Met1097Val",
        "hgvsWellDefined": "NP_000115.1:p.Met1097Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006186"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 242,
          "endIntronDirection": "-",
          "endIntronOffset": 893,
          "referenceAllele": "T",
          "start": 242,
          "startIntronDirection": "-",
          "startIntronOffset": 894
        }
      ],
      "hgvs": [
        "XR_945953.1:n.243-894T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS139541"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916028893",
      "coordinates": [
        {
          "allele": "G",
          "end": 3461,
          "referenceAllele": "A",
          "start": 3460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003438",
      "geneNCBI_id": 2074,
      "geneSymbol": "ERCC6",
      "hgvs": [
        "NM_001346440.1:c.3289A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333369.1:p.Met1097Val",
        "hgvsWellDefined": "NP_001333369.1:p.Met1097Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517542"
    },
    {
      "@id": "http://reg.genome.network/allele/PA152784",
      "coordinates": [
        {
          "allele": "G",
          "end": 3463,
          "referenceAllele": "A",
          "start": 3462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003438",
      "geneNCBI_id": 2074,
      "geneSymbol": "ERCC6",
      "hgvs": [
        "NM_000124.4:c.3289A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000115.1:p.Met1097Val",
        "hgvsWellDefined": "NP_000115.1:p.Met1097Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662322",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355832.10:c.3289A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000124.4:c.3289A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348089.5:p.Met1097Val"
          },
          "RefSeq": {
            "hgvs": "NP_000115.1:p.Met1097Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916028893",
      "coordinates": [
        {
          "allele": "G",
          "end": 3459,
          "referenceAllele": "A",
          "start": 3458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003438",
      "geneNCBI_id": 2074,
      "geneSymbol": "ERCC6",
      "hgvs": [
        "NM_001346440.2:c.3289A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333369.1:p.Met1097Val",
        "hgvsWellDefined": "NP_001333369.1:p.Met1097Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718939"
    }
  ],
  "type": "nucleotide"
}