{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA493690060",
  "communityStandardTitle": [
    "NM_005236.3(ERCC4):c.2424A>G (p.Ala808=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=770549[alleleid]",
        "alleleId": 770549,
        "preferredName": "NM_005236.3(ERCC4):c.2424A>G (p.Ala808=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/755979",
        "RCV": [
          "RCV000933447"
        ],
        "variationId": 755979
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.14041877A>G?assembly=hg19",
        "id": "chr16:g.14041877A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.13948020A>G?assembly=hg38",
        "id": "chr16:g.13948020A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1269027695",
        "rs": 1269027695
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-14041877-A-G?dataset=gnomad_r2_1",
        "id": "16-14041877-A-G",
        "variant": "16:14041877 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-13948020-A-G?dataset=gnomad_r3",
        "id": "16-13948020-A-G",
        "variant": "16:13948020 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-13948020-A-G?dataset=gnomad_r4",
        "id": "16-13948020-A-G",
        "variant": "16:13948020 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 13948020,
          "referenceAllele": "A",
          "start": 13948019
        }
      ],
      "hgvs": [
        "NC_000016.10:g.13948020A>G",
        "CM000678.2:g.13948020A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 14041877,
          "referenceAllele": "A",
          "start": 14041876
        }
      ],
      "hgvs": [
        "NC_000016.9:g.14041877A>G",
        "CM000678.1:g.14041877A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 13949378,
          "referenceAllele": "A",
          "start": 13949377
        }
      ],
      "hgvs": [
        "NC_000016.8:g.13949378A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 32864,
          "referenceAllele": "A",
          "start": 32863
        }
      ],
      "hgvs": [
        "NG_011442.1:g.32864A>G",
        "LRG_463:g.32864A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001720"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2590,
          "referenceAllele": "A",
          "start": 2589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000682617.1:c.2562A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507912.1:p.Ala854="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827606"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2544,
          "referenceAllele": "A",
          "start": 2543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000683962.1:c.*2118A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506854.1:n.*2118A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828925"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2436,
          "referenceAllele": "A",
          "start": 2435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000311895.8:c.2424A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310520.7:p.Ala808="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745755",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311895.8:c.2424A>G"
          },
          "RefSeq": {
            "hgvs": "NM_005236.3:c.2424A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310520.7:p.Ala808="
          },
          "RefSeq": {
            "hgvs": "NP_005227.1:p.Ala808="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2433,
          "referenceAllele": "A",
          "start": 2432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000311895.7:c.2424A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310520.7:p.Ala808="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256598"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1701,
          "referenceAllele": "A",
          "start": 1700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000389138.7:n.1701A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS274156"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829592023",
      "coordinates": [
        {
          "allele": "G",
          "end": 2433,
          "referenceAllele": "A",
          "start": 2432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "NM_005236.2:c.2424A>G",
        "LRG_463t1:c.2424A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005227.1:p.Ala808="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030348"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2583,
          "referenceAllele": "A",
          "start": 2582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522424.1:c.2562A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520726.1:p.Ala854="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089576"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3116,
          "referenceAllele": "A",
          "start": 3115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522425.1:c.1881A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520727.1:p.Ala627="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089577"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1732,
          "referenceAllele": "A",
          "start": 1731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522426.1:c.1635A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520728.1:p.Ala545="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089578"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1570,
          "referenceAllele": "A",
          "start": 1569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522427.1:c.1074A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520729.1:p.Ala358="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089579"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2583,
          "referenceAllele": "A",
          "start": 2582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XR_932805.1:n.2583A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128721"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2591,
          "referenceAllele": "A",
          "start": 2590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522424.3:c.2562A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520726.1:p.Ala854="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546577"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2555,
          "referenceAllele": "A",
          "start": 2554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_017023043.2:c.1635A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878532.1:p.Ala545="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573869"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829592023",
      "coordinates": [
        {
          "allele": "G",
          "end": 2436,
          "referenceAllele": "A",
          "start": 2435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "NM_005236.3:c.2424A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005227.1:p.Ala808="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696357",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311895.8:c.2424A>G"
          },
          "RefSeq": {
            "hgvs": "NM_005236.3:c.2424A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310520.7:p.Ala808="
          },
          "RefSeq": {
            "hgvs": "NP_005227.1:p.Ala808="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}