{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7041261",
  "communityStandardTitle": [
    "NM_000123.4(ERCC5):c.673-2A>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1326964[alleleid]",
        "alleleId": 1326964,
        "preferredName": "NM_000123.4(ERCC5):c.673-2A>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1335951",
        "RCV": [
          "RCV001822133",
          "RCV002503310"
        ],
        "variationId": 1335951
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/13-103513855-A-G",
        "id": "13-103513855-A-G",
        "variant": "13:103513855 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.103513855A>G?assembly=hg19",
        "id": "chr13:g.103513855A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.102861505A>G?assembly=hg38",
        "id": "chr13:g.102861505A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/756420203",
        "rs": 756420203
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-103513855-A-G?dataset=gnomad_r2_1",
        "id": "13-103513855-A-G",
        "variant": "13:103513855 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-102861505-A-G?dataset=gnomad_r4",
        "id": "13-102861505-A-G",
        "variant": "13:102861505 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 102861505,
          "referenceAllele": "A",
          "start": 102861504
        }
      ],
      "hgvs": [
        "NC_000013.11:g.102861505A>G",
        "CM000675.2:g.102861505A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 103513855,
          "referenceAllele": "A",
          "start": 103513854
        }
      ],
      "hgvs": [
        "NC_000013.10:g.103513855A>G",
        "CM000675.1:g.103513855A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 102311856,
          "referenceAllele": "A",
          "start": 102311855
        }
      ],
      "hgvs": [
        "NC_000013.9:g.102311856A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 20682,
          "referenceAllele": "A",
          "start": 20681
        }
      ],
      "hgvs": [
        "NG_007146.1:g.20682A>G",
        "LRG_464:g.20682A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000499"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 913,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 913,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003437",
      "geneNCBI_id": 2073,
      "geneSymbol": "ERCC5",
      "hgvs": [
        "ENST00000682632.1:n.914-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827621"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1321,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1321,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003437",
      "geneNCBI_id": 2073,
      "geneSymbol": "ERCC5",
      "hgvs": [
        "ENST00000682869.1:n.1322-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827857"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1449,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1449,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003437",
      "geneNCBI_id": 2073,
      "geneSymbol": "ERCC5",
      "hgvs": [
        "ENST00000683246.1:n.1450-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828228"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2218,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2218,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN043690",
      "geneNCBI_id": 100533467,
      "geneSymbol": "BIVM-ERCC5",
      "hgvs": [
        "ENST00000639132.1:c.1348-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492684.1:n.1348-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764881"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2652,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2652,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN043690",
      "geneNCBI_id": 100533467,
      "geneSymbol": "BIVM-ERCC5",
      "hgvs": [
        "ENST00000639435.1:c.2035-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491742.1:n.2035-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765025"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1253,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1253,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003437",
      "geneNCBI_id": 2073,
      "geneSymbol": "ERCC5",
      "hgvs": [
        "ENST00000651002.1:c.*434-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498809.1:n.*434-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771415"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 801,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 801,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003437",
      "geneNCBI_id": 2073,
      "geneSymbol": "ERCC5",
      "hgvs": [
        "ENST00000651055.1:n.802-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771443"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1040,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1040,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003437",
      "geneNCBI_id": 2073,
      "geneSymbol": "ERCC5",
      "hgvs": [
        "ENST00000651281.1:n.1041-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771574"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 156,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 156,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003437",
      "geneNCBI_id": 2073,
      "geneSymbol": "ERCC5",
      "hgvs": [
        "ENST00000651387.1:n.157-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771641"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 731,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 731,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003437",
      "geneNCBI_id": 2073,
      "geneSymbol": "ERCC5",
      "hgvs": [
        "ENST00000651470.1:c.673-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498701.1:n.673-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771686"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 907,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 907,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003437",
      "geneNCBI_id": 2073,
      "geneSymbol": "ERCC5",
      "hgvs": [
        "ENST00000652225.2:c.673-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498881.2:n.673-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772086",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000652225.2:c.673-2A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000123.4:c.673-2A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498881.2:n.673-2A>G"
          },
          "RefSeq": {
            "hgvs": "NP_000114.3:n.673-2A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1065,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1065,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003437",
      "geneNCBI_id": 2073,
      "geneSymbol": "ERCC5",
      "hgvs": [
        "ENST00000652613.1:c.169-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498357.1:n.169-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772311"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2095,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2095,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003437",
      "geneNCBI_id": 2073,
      "geneSymbol": "ERCC5",
      "hgvs": [
        "ENST00000355739.8:c.673-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347978.4:n.673-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263535"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1948,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1948,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN043690",
      "geneNCBI_id": 100533467,
      "geneSymbol": "BIVM-ERCC5",
      "hgvs": [
        "ENST00000602836.1:c.1949-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS398366"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 682,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 682,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003437",
      "geneNCBI_id": 2073,
      "geneSymbol": "ERCC5",
      "hgvs": [
        "ENST00000610537.4:c.673-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478667.1:n.673-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400463"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1098,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1098,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003437",
      "geneNCBI_id": 2073,
      "geneSymbol": "ERCC5",
      "hgvs": [
        "NM_000123.3:c.673-2A>G",
        "LRG_464t1:c.673-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000114.2:n.673-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006185"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2156,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2156,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN043690",
      "geneNCBI_id": 100533467,
      "geneSymbol": "BIVM-ERCC5",
      "hgvs": [
        "NM_001204425.1:c.2035-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191354.1:n.2035-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017655"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 907,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 907,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003437",
      "geneNCBI_id": 2073,
      "geneSymbol": "ERCC5",
      "hgvs": [
        "NM_000123.4:c.673-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000114.3:n.673-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674712",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000652225.2:c.673-2A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000123.4:c.673-2A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498881.2:n.673-2A>G"
          },
          "RefSeq": {
            "hgvs": "NP_000114.3:n.673-2A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2156,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2156,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN043690",
      "geneNCBI_id": 100533467,
      "geneSymbol": "BIVM-ERCC5",
      "hgvs": [
        "NM_001204425.2:c.2035-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191354.2:n.2035-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679846"
    }
  ],
  "type": "nucleotide"
}