{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7910086",
  "communityStandardTitle": [
    "NM_005236.3(ERCC4):c.105C>T (p.Cys35=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=324109[alleleid]",
        "alleleId": 324109,
        "preferredName": "NM_005236.3(ERCC4):c.105C>T (p.Cys35=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/317798",
        "RCV": [
          "RCV000285190",
          "RCV002061190"
        ],
        "variationId": 317798
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-14014127-C-T",
        "id": "16-14014127-C-T",
        "variant": "16:14014127 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.14014127C>T?assembly=hg19",
        "id": "chr16:g.14014127C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.13920270C>T?assembly=hg38",
        "id": "chr16:g.13920270C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/762885804",
        "rs": 762885804
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-14014127-C-T?dataset=gnomad_r2_1",
        "id": "16-14014127-C-T",
        "variant": "16:14014127 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-13920270-C-T?dataset=gnomad_r3",
        "id": "16-13920270-C-T",
        "variant": "16:13920270 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-13920270-C-T?dataset=gnomad_r4",
        "id": "16-13920270-C-T",
        "variant": "16:13920270 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 13920270,
          "referenceAllele": "C",
          "start": 13920269
        }
      ],
      "hgvs": [
        "NC_000016.10:g.13920270C>T",
        "CM000678.2:g.13920270C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 14014127,
          "referenceAllele": "C",
          "start": 14014126
        }
      ],
      "hgvs": [
        "NC_000016.9:g.14014127C>T",
        "CM000678.1:g.14014127C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 13921628,
          "referenceAllele": "C",
          "start": 13921627
        }
      ],
      "hgvs": [
        "NC_000016.8:g.13921628C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5114,
          "referenceAllele": "C",
          "start": 5113
        }
      ],
      "hgvs": [
        "NG_011442.1:g.5114C>T",
        "LRG_463:g.5114C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001720"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 93,
          "referenceAllele": "C",
          "start": 92
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000682552.1:n.93C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827542"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 133,
          "referenceAllele": "C",
          "start": 132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000682617.1:c.105C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507912.1:p.Cys35="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827606"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 114,
          "referenceAllele": "C",
          "start": 113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000682826.1:c.105C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507274.1:p.Cys35="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827814"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 114,
          "referenceAllele": "C",
          "start": 113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000682909.1:n.114C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827897"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 92,
          "referenceAllele": "C",
          "start": 91
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000683277.1:n.92C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828258"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 113,
          "referenceAllele": "C",
          "start": 112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000683407.1:n.113C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828384"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 117,
          "referenceAllele": "C",
          "start": 116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000683962.1:c.105C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506854.1:p.Cys35="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828925"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 117,
          "referenceAllele": "C",
          "start": 116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000311895.8:c.105C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310520.7:p.Cys35="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745755",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311895.8:c.105C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005236.3:c.105C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310520.7:p.Cys35="
          },
          "RefSeq": {
            "hgvs": "NP_005227.1:p.Cys35="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 114,
          "referenceAllele": "C",
          "start": 113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000311895.7:c.105C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310520.7:p.Cys35="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256598"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 114,
          "referenceAllele": "C",
          "start": 113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000575156.5:c.105C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459933.1:p.Cys35="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS383997"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 80,
          "referenceAllele": "C",
          "start": 79
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000576348.1:n.80C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS384443"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829591698",
      "coordinates": [
        {
          "allele": "T",
          "end": 114,
          "referenceAllele": "C",
          "start": 113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "NM_005236.2:c.105C>T",
        "LRG_463t1:c.105C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005227.1:p.Cys35="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030348"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 126,
          "referenceAllele": "C",
          "start": 125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522424.1:c.105C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520726.1:p.Cys35="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089576"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 126,
          "referenceAllele": "C",
          "start": 125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XR_932805.1:n.126C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128721"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 82,
          "endIntronDirection": "+",
          "endIntronOffset": 6255,
          "referenceAllele": "G",
          "start": 82,
          "startIntronDirection": "+",
          "startIntronOffset": 6254
        }
      ],
      "hgvs": [
        "XR_933098.1:n.82+6255G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128880"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 82,
          "endIntronDirection": "+",
          "endIntronOffset": 6255,
          "referenceAllele": "G",
          "start": 82,
          "startIntronDirection": "+",
          "startIntronOffset": 6254
        }
      ],
      "hgvs": [
        "XR_933099.1:n.82+6255G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128881"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 82,
          "endIntronDirection": "+",
          "endIntronOffset": 6255,
          "referenceAllele": "G",
          "start": 82,
          "startIntronDirection": "+",
          "startIntronOffset": 6254
        }
      ],
      "hgvs": [
        "XR_933100.1:n.82+6255G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128882"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 134,
          "referenceAllele": "C",
          "start": 133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522424.3:c.105C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520726.1:p.Cys35="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546577"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 88,
          "referenceAllele": "C",
          "start": 87
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_017023043.2:c.-833C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878532.1:n.-833C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573869"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829591698",
      "coordinates": [
        {
          "allele": "T",
          "end": 117,
          "referenceAllele": "C",
          "start": 116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "NM_005236.3:c.105C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005227.1:p.Cys35="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696357",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311895.8:c.105C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005236.3:c.105C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310520.7:p.Cys35="
          },
          "RefSeq": {
            "hgvs": "NP_005227.1:p.Cys35="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}