{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA394824680",
  "communityStandardTitle": [
    "NM_005236.3(ERCC4):c.2632G>C (p.Ala878Pro)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.14042085G>C?assembly=hg19",
        "id": "chr16:g.14042085G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.13948228G>C?assembly=hg38",
        "id": "chr16:g.13948228G>C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 13948228,
          "referenceAllele": "G",
          "start": 13948227
        }
      ],
      "hgvs": [
        "NC_000016.10:g.13948228G>C",
        "CM000678.2:g.13948228G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 14042085,
          "referenceAllele": "G",
          "start": 14042084
        }
      ],
      "hgvs": [
        "NC_000016.9:g.14042085G>C",
        "CM000678.1:g.14042085G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 13949586,
          "referenceAllele": "G",
          "start": 13949585
        }
      ],
      "hgvs": [
        "NC_000016.8:g.13949586G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 33072,
          "referenceAllele": "G",
          "start": 33071
        }
      ],
      "hgvs": [
        "NG_011442.1:g.33072G>C",
        "LRG_463:g.33072G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001720"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2798,
          "referenceAllele": "G",
          "start": 2797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000682617.1:c.2770G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507912.1:p.Ala924Pro",
        "hgvsWellDefined": "ENSP00000507912.1:p.Ala924Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827606"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2752,
          "referenceAllele": "G",
          "start": 2751
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000683962.1:c.*2326G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506854.1:n.*2326G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828925"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2644,
          "referenceAllele": "G",
          "start": 2643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000311895.8:c.2632G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310520.7:p.Ala878Pro",
        "hgvsWellDefined": "ENSP00000310520.7:p.Ala878Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745755",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311895.8:c.2632G>C"
          },
          "RefSeq": {
            "hgvs": "NM_005236.3:c.2632G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310520.7:p.Ala878Pro"
          },
          "RefSeq": {
            "hgvs": "NP_005227.1:p.Ala878Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2641,
          "referenceAllele": "G",
          "start": 2640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000311895.7:c.2632G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310520.7:p.Ala878Pro",
        "hgvsWellDefined": "ENSP00000310520.7:p.Ala878Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256598"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1909,
          "referenceAllele": "G",
          "start": 1908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000389138.7:n.1909G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS274156"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2641,
          "referenceAllele": "G",
          "start": 2640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "NM_005236.2:c.2632G>C",
        "LRG_463t1:c.2632G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005227.1:p.Ala878Pro",
        "hgvsWellDefined": "NP_005227.1:p.Ala878Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030348"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2791,
          "referenceAllele": "G",
          "start": 2790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522424.1:c.2770G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520726.1:p.Ala924Pro",
        "hgvsWellDefined": "XP_011520726.1:p.Ala924Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089576"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3324,
          "referenceAllele": "G",
          "start": 3323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522425.1:c.2089G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520727.1:p.Ala697Pro",
        "hgvsWellDefined": "XP_011520727.1:p.Ala697Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089577"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1940,
          "referenceAllele": "G",
          "start": 1939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522426.1:c.1843G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520728.1:p.Ala615Pro",
        "hgvsWellDefined": "XP_011520728.1:p.Ala615Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089578"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1778,
          "referenceAllele": "G",
          "start": 1777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522427.1:c.1282G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520729.1:p.Ala428Pro",
        "hgvsWellDefined": "XP_011520729.1:p.Ala428Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089579"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2791,
          "referenceAllele": "G",
          "start": 2790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XR_932805.1:n.2791G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128721"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2799,
          "referenceAllele": "G",
          "start": 2798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522424.3:c.2770G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520726.1:p.Ala924Pro",
        "hgvsWellDefined": "XP_011520726.1:p.Ala924Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546577"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2763,
          "referenceAllele": "G",
          "start": 2762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_017023043.2:c.1843G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878532.1:p.Ala615Pro",
        "hgvsWellDefined": "XP_016878532.1:p.Ala615Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573869"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2644,
          "referenceAllele": "G",
          "start": 2643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "NM_005236.3:c.2632G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005227.1:p.Ala878Pro",
        "hgvsWellDefined": "NP_005227.1:p.Ala878Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696357",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311895.8:c.2632G>C"
          },
          "RefSeq": {
            "hgvs": "NM_005236.3:c.2632G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310520.7:p.Ala878Pro"
          },
          "RefSeq": {
            "hgvs": "NP_005227.1:p.Ala878Pro"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}