{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA394822227",
  "communityStandardTitle": [
    "NM_005236.3(ERCC4):c.2156C>G (p.Thr719Ser)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.14041609C>G?assembly=hg19",
        "id": "chr16:g.14041609C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.13947752C>G?assembly=hg38",
        "id": "chr16:g.13947752C>G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 13947752,
          "referenceAllele": "C",
          "start": 13947751
        }
      ],
      "hgvs": [
        "NC_000016.10:g.13947752C>G",
        "CM000678.2:g.13947752C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 14041609,
          "referenceAllele": "C",
          "start": 14041608
        }
      ],
      "hgvs": [
        "NC_000016.9:g.14041609C>G",
        "CM000678.1:g.14041609C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 13949110,
          "referenceAllele": "C",
          "start": 13949109
        }
      ],
      "hgvs": [
        "NC_000016.8:g.13949110C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 32596,
          "referenceAllele": "C",
          "start": 32595
        }
      ],
      "hgvs": [
        "NG_011442.1:g.32596C>G",
        "LRG_463:g.32596C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001720"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2322,
          "referenceAllele": "C",
          "start": 2321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000682617.1:c.2294C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507912.1:p.Thr765Ser",
        "hgvsWellDefined": "ENSP00000507912.1:p.Thr765Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827606"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2276,
          "referenceAllele": "C",
          "start": 2275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000683962.1:c.*1850C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506854.1:n.*1850C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828925"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2168,
          "referenceAllele": "C",
          "start": 2167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000311895.8:c.2156C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310520.7:p.Thr719Ser",
        "hgvsWellDefined": "ENSP00000310520.7:p.Thr719Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745755",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311895.8:c.2156C>G"
          },
          "RefSeq": {
            "hgvs": "NM_005236.3:c.2156C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310520.7:p.Thr719Ser"
          },
          "RefSeq": {
            "hgvs": "NP_005227.1:p.Thr719Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2165,
          "referenceAllele": "C",
          "start": 2164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000311895.7:c.2156C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310520.7:p.Thr719Ser",
        "hgvsWellDefined": "ENSP00000310520.7:p.Thr719Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256598"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1433,
          "referenceAllele": "C",
          "start": 1432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000389138.7:n.1433C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS274156"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 469,
          "referenceAllele": "C",
          "start": 468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000462862.1:c.469C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461322.1:n.469C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS307027"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2165,
          "referenceAllele": "C",
          "start": 2164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "NM_005236.2:c.2156C>G",
        "LRG_463t1:c.2156C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005227.1:p.Thr719Ser",
        "hgvsWellDefined": "NP_005227.1:p.Thr719Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030348"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2315,
          "referenceAllele": "C",
          "start": 2314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522424.1:c.2294C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520726.1:p.Thr765Ser",
        "hgvsWellDefined": "XP_011520726.1:p.Thr765Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089576"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2848,
          "referenceAllele": "C",
          "start": 2847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522425.1:c.1613C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520727.1:p.Thr538Ser",
        "hgvsWellDefined": "XP_011520727.1:p.Thr538Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089577"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1464,
          "referenceAllele": "C",
          "start": 1463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522426.1:c.1367C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520728.1:p.Thr456Ser",
        "hgvsWellDefined": "XP_011520728.1:p.Thr456Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089578"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1302,
          "referenceAllele": "C",
          "start": 1301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522427.1:c.806C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520729.1:p.Thr269Ser",
        "hgvsWellDefined": "XP_011520729.1:p.Thr269Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089579"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2315,
          "referenceAllele": "C",
          "start": 2314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XR_932805.1:n.2315C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128721"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2323,
          "referenceAllele": "C",
          "start": 2322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522424.3:c.2294C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520726.1:p.Thr765Ser",
        "hgvsWellDefined": "XP_011520726.1:p.Thr765Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546577"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2287,
          "referenceAllele": "C",
          "start": 2286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_017023043.2:c.1367C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878532.1:p.Thr456Ser",
        "hgvsWellDefined": "XP_016878532.1:p.Thr456Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573869"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2168,
          "referenceAllele": "C",
          "start": 2167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "NM_005236.3:c.2156C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005227.1:p.Thr719Ser",
        "hgvsWellDefined": "NP_005227.1:p.Thr719Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696357",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311895.8:c.2156C>G"
          },
          "RefSeq": {
            "hgvs": "NM_005236.3:c.2156C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310520.7:p.Thr719Ser"
          },
          "RefSeq": {
            "hgvs": "NP_005227.1:p.Thr719Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}