{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA394824673",
  "communityStandardTitle": [
    "NM_005236.3(ERCC4):c.2630C>A (p.Ala877Glu)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.14042083C>A?assembly=hg19",
        "id": "chr16:g.14042083C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.13948226C>A?assembly=hg38",
        "id": "chr16:g.13948226C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/755713614",
        "rs": 755713614
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 13948226,
          "referenceAllele": "C",
          "start": 13948225
        }
      ],
      "hgvs": [
        "NC_000016.10:g.13948226C>A",
        "CM000678.2:g.13948226C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 14042083,
          "referenceAllele": "C",
          "start": 14042082
        }
      ],
      "hgvs": [
        "NC_000016.9:g.14042083C>A",
        "CM000678.1:g.14042083C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 13949584,
          "referenceAllele": "C",
          "start": 13949583
        }
      ],
      "hgvs": [
        "NC_000016.8:g.13949584C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 33070,
          "referenceAllele": "C",
          "start": 33069
        }
      ],
      "hgvs": [
        "NG_011442.1:g.33070C>A",
        "LRG_463:g.33070C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001720"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2796,
          "referenceAllele": "C",
          "start": 2795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000682617.1:c.2768C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507912.1:p.Ala923Glu",
        "hgvsWellDefined": "ENSP00000507912.1:p.Ala923Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827606"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2750,
          "referenceAllele": "C",
          "start": 2749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000683962.1:c.*2324C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506854.1:n.*2324C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828925"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2642,
          "referenceAllele": "C",
          "start": 2641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000311895.8:c.2630C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310520.7:p.Ala877Glu",
        "hgvsWellDefined": "ENSP00000310520.7:p.Ala877Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745755",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311895.8:c.2630C>A"
          },
          "RefSeq": {
            "hgvs": "NM_005236.3:c.2630C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310520.7:p.Ala877Glu"
          },
          "RefSeq": {
            "hgvs": "NP_005227.1:p.Ala877Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2639,
          "referenceAllele": "C",
          "start": 2638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000311895.7:c.2630C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310520.7:p.Ala877Glu",
        "hgvsWellDefined": "ENSP00000310520.7:p.Ala877Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256598"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1907,
          "referenceAllele": "C",
          "start": 1906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000389138.7:n.1907C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS274156"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083035987",
      "coordinates": [
        {
          "allele": "A",
          "end": 2639,
          "referenceAllele": "C",
          "start": 2638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "NM_005236.2:c.2630C>A",
        "LRG_463t1:c.2630C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005227.1:p.Ala877Glu",
        "hgvsWellDefined": "NP_005227.1:p.Ala877Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030348"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2789,
          "referenceAllele": "C",
          "start": 2788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522424.1:c.2768C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520726.1:p.Ala923Glu",
        "hgvsWellDefined": "XP_011520726.1:p.Ala923Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089576"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3322,
          "referenceAllele": "C",
          "start": 3321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522425.1:c.2087C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520727.1:p.Ala696Glu",
        "hgvsWellDefined": "XP_011520727.1:p.Ala696Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089577"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1938,
          "referenceAllele": "C",
          "start": 1937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522426.1:c.1841C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520728.1:p.Ala614Glu",
        "hgvsWellDefined": "XP_011520728.1:p.Ala614Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089578"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1776,
          "referenceAllele": "C",
          "start": 1775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522427.1:c.1280C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520729.1:p.Ala427Glu",
        "hgvsWellDefined": "XP_011520729.1:p.Ala427Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089579"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2789,
          "referenceAllele": "C",
          "start": 2788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XR_932805.1:n.2789C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128721"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2797,
          "referenceAllele": "C",
          "start": 2796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522424.3:c.2768C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520726.1:p.Ala923Glu",
        "hgvsWellDefined": "XP_011520726.1:p.Ala923Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546577"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2761,
          "referenceAllele": "C",
          "start": 2760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_017023043.2:c.1841C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878532.1:p.Ala614Glu",
        "hgvsWellDefined": "XP_016878532.1:p.Ala614Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573869"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083035987",
      "coordinates": [
        {
          "allele": "A",
          "end": 2642,
          "referenceAllele": "C",
          "start": 2641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "NM_005236.3:c.2630C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005227.1:p.Ala877Glu",
        "hgvsWellDefined": "NP_005227.1:p.Ala877Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696357",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311895.8:c.2630C>A"
          },
          "RefSeq": {
            "hgvs": "NM_005236.3:c.2630C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310520.7:p.Ala877Glu"
          },
          "RefSeq": {
            "hgvs": "NP_005227.1:p.Ala877Glu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}