{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2209082930",
  "communityStandardTitle": [
    "NM_005236.3(ERCC4):c.2633C= (p.Ala878=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/948636865",
        "rs": 948636865
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 13948229,
          "referenceAllele": "C",
          "start": 13948228
        }
      ],
      "hgvs": [
        "NC_000016.10:g.13948229C=",
        "CM000678.2:g.13948229C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 14042086,
          "referenceAllele": "C",
          "start": 14042085
        }
      ],
      "hgvs": [
        "NC_000016.9:g.14042086C=",
        "CM000678.1:g.14042086C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 13949587,
          "referenceAllele": "C",
          "start": 13949586
        }
      ],
      "hgvs": [
        "NC_000016.8:g.13949587C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 33073,
          "referenceAllele": "C",
          "start": 33072
        }
      ],
      "hgvs": [
        "NG_011442.1:g.33073C=",
        "LRG_463:g.33073C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001720"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2799,
          "referenceAllele": "C",
          "start": 2798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000682617.1:c.2771C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507912.1:p.Ala924="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827606"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2753,
          "referenceAllele": "C",
          "start": 2752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000683962.1:c.*2327C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506854.1:n.*2327C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828925"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2645,
          "referenceAllele": "C",
          "start": 2644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000311895.8:c.2633C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310520.7:p.Ala878="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745755",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311895.8:c.2633C="
          },
          "RefSeq": {
            "hgvs": "NM_005236.3:c.2633C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310520.7:p.Ala878="
          },
          "RefSeq": {
            "hgvs": "NP_005227.1:p.Ala878="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2642,
          "referenceAllele": "C",
          "start": 2641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000311895.7:c.2633C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310520.7:p.Ala878="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256598"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1910,
          "referenceAllele": "C",
          "start": 1909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000389138.7:n.1910C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS274156"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083194861",
      "coordinates": [
        {
          "allele": "C",
          "end": 2642,
          "referenceAllele": "C",
          "start": 2641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "NM_005236.2:c.2633C=",
        "LRG_463t1:c.2633C="
      ],
      "proteinEffect": {
        "hgvs": "NP_005227.1:p.Ala878="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030348"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2792,
          "referenceAllele": "C",
          "start": 2791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522424.1:c.2771C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520726.1:p.Ala924="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089576"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3325,
          "referenceAllele": "C",
          "start": 3324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522425.1:c.2090C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520727.1:p.Ala697="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089577"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1941,
          "referenceAllele": "C",
          "start": 1940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522426.1:c.1844C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520728.1:p.Ala615="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089578"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1779,
          "referenceAllele": "C",
          "start": 1778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522427.1:c.1283C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520729.1:p.Ala428="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089579"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2792,
          "referenceAllele": "C",
          "start": 2791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XR_932805.1:n.2792C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128721"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2800,
          "referenceAllele": "C",
          "start": 2799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522424.3:c.2771C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520726.1:p.Ala924="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546577"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2764,
          "referenceAllele": "C",
          "start": 2763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_017023043.2:c.1844C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016878532.1:p.Ala615="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573869"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083194861",
      "coordinates": [
        {
          "allele": "C",
          "end": 2645,
          "referenceAllele": "C",
          "start": 2644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "NM_005236.3:c.2633C="
      ],
      "proteinEffect": {
        "hgvs": "NP_005227.1:p.Ala878="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696357",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311895.8:c.2633C="
          },
          "RefSeq": {
            "hgvs": "NM_005236.3:c.2633C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310520.7:p.Ala878="
          },
          "RefSeq": {
            "hgvs": "NP_005227.1:p.Ala878="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}