{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA394823118",
  "communityStandardTitle": [
    "NM_005236.3(ERCC4):c.2341A>C (p.Ser781Arg)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.14041794A>C?assembly=hg19",
        "id": "chr16:g.14041794A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.13947937A>C?assembly=hg38",
        "id": "chr16:g.13947937A>C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 13947937,
          "referenceAllele": "A",
          "start": 13947936
        }
      ],
      "hgvs": [
        "NC_000016.10:g.13947937A>C",
        "CM000678.2:g.13947937A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 14041794,
          "referenceAllele": "A",
          "start": 14041793
        }
      ],
      "hgvs": [
        "NC_000016.9:g.14041794A>C",
        "CM000678.1:g.14041794A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 13949295,
          "referenceAllele": "A",
          "start": 13949294
        }
      ],
      "hgvs": [
        "NC_000016.8:g.13949295A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 32781,
          "referenceAllele": "A",
          "start": 32780
        }
      ],
      "hgvs": [
        "NG_011442.1:g.32781A>C",
        "LRG_463:g.32781A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001720"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2507,
          "referenceAllele": "A",
          "start": 2506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000682617.1:c.2479A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507912.1:p.Ser827Arg",
        "hgvsWellDefined": "ENSP00000507912.1:p.Ser827Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827606"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2461,
          "referenceAllele": "A",
          "start": 2460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000683962.1:c.*2035A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506854.1:n.*2035A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828925"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2353,
          "referenceAllele": "A",
          "start": 2352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000311895.8:c.2341A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310520.7:p.Ser781Arg",
        "hgvsWellDefined": "ENSP00000310520.7:p.Ser781Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745755",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311895.8:c.2341A>C"
          },
          "RefSeq": {
            "hgvs": "NM_005236.3:c.2341A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310520.7:p.Ser781Arg"
          },
          "RefSeq": {
            "hgvs": "NP_005227.1:p.Ser781Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2350,
          "referenceAllele": "A",
          "start": 2349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000311895.7:c.2341A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310520.7:p.Ser781Arg",
        "hgvsWellDefined": "ENSP00000310520.7:p.Ser781Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256598"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1618,
          "referenceAllele": "A",
          "start": 1617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000389138.7:n.1618A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS274156"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 654,
          "referenceAllele": "A",
          "start": 653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000462862.1:c.654A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461322.1:n.654A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS307027"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083698766",
      "coordinates": [
        {
          "allele": "C",
          "end": 2350,
          "referenceAllele": "A",
          "start": 2349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "NM_005236.2:c.2341A>C",
        "LRG_463t1:c.2341A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005227.1:p.Ser781Arg",
        "hgvsWellDefined": "NP_005227.1:p.Ser781Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030348"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2500,
          "referenceAllele": "A",
          "start": 2499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522424.1:c.2479A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520726.1:p.Ser827Arg",
        "hgvsWellDefined": "XP_011520726.1:p.Ser827Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089576"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3033,
          "referenceAllele": "A",
          "start": 3032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522425.1:c.1798A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520727.1:p.Ser600Arg",
        "hgvsWellDefined": "XP_011520727.1:p.Ser600Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089577"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1649,
          "referenceAllele": "A",
          "start": 1648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522426.1:c.1552A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520728.1:p.Ser518Arg",
        "hgvsWellDefined": "XP_011520728.1:p.Ser518Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089578"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1487,
          "referenceAllele": "A",
          "start": 1486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522427.1:c.991A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520729.1:p.Ser331Arg",
        "hgvsWellDefined": "XP_011520729.1:p.Ser331Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089579"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2500,
          "referenceAllele": "A",
          "start": 2499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XR_932805.1:n.2500A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128721"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2508,
          "referenceAllele": "A",
          "start": 2507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522424.3:c.2479A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520726.1:p.Ser827Arg",
        "hgvsWellDefined": "XP_011520726.1:p.Ser827Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546577"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2472,
          "referenceAllele": "A",
          "start": 2471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_017023043.2:c.1552A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878532.1:p.Ser518Arg",
        "hgvsWellDefined": "XP_016878532.1:p.Ser518Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573869"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083698766",
      "coordinates": [
        {
          "allele": "C",
          "end": 2353,
          "referenceAllele": "A",
          "start": 2352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "NM_005236.3:c.2341A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005227.1:p.Ser781Arg",
        "hgvsWellDefined": "NP_005227.1:p.Ser781Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696357",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311895.8:c.2341A>C"
          },
          "RefSeq": {
            "hgvs": "NM_005236.3:c.2341A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310520.7:p.Ser781Arg"
          },
          "RefSeq": {
            "hgvs": "NP_005227.1:p.Ser781Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}