{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7041930",
  "communityStandardTitle": [
    "NM_000123.4(ERCC5):c.3554A>C (p.Lys1185Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=985305[alleleid]",
        "alleleId": 985305,
        "preferredName": "NM_000123.4(ERCC5):c.3554A>C (p.Lys1185Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/997612",
        "RCV": [
          "RCV001292888",
          "RCV001847231",
          "RCV002256729",
          "RCV002480945"
        ],
        "variationId": 997612
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/13-103528246-A-C",
        "id": "13-103528246-A-C",
        "variant": "13:103528246 A / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.103528246A>C?assembly=hg19",
        "id": "chr13:g.103528246A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.102875896A>C?assembly=hg38",
        "id": "chr13:g.102875896A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/201911663",
        "rs": 201911663
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-103528246-A-C?dataset=gnomad_r2_1",
        "id": "13-103528246-A-C",
        "variant": "13:103528246 A / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-102875896-A-C?dataset=gnomad_r3",
        "id": "13-102875896-A-C",
        "variant": "13:102875896 A / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-102875896-A-C?dataset=gnomad_r4",
        "id": "13-102875896-A-C",
        "variant": "13:102875896 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 102875896,
          "referenceAllele": "A",
          "start": 102875895
        }
      ],
      "hgvs": [
        "NC_000013.11:g.102875896A>C",
        "CM000675.2:g.102875896A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 103528246,
          "referenceAllele": "A",
          "start": 103528245
        }
      ],
      "hgvs": [
        "NC_000013.10:g.103528246A>C",
        "CM000675.1:g.103528246A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 102326247,
          "referenceAllele": "A",
          "start": 102326246
        }
      ],
      "hgvs": [
        "NC_000013.9:g.102326247A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 35073,
          "referenceAllele": "A",
          "start": 35072
        }
      ],
      "hgvs": [
        "NG_007146.1:g.35073A>C",
        "LRG_464:g.35073A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000499"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4655,
          "referenceAllele": "A",
          "start": 4654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003437",
      "geneNCBI_id": 2073,
      "geneSymbol": "ERCC5",
      "hgvs": [
        "ENST00000682632.1:n.4655A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827621"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4203,
          "referenceAllele": "A",
          "start": 4202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003437",
      "geneNCBI_id": 2073,
      "geneSymbol": "ERCC5",
      "hgvs": [
        "ENST00000682869.1:n.4203A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827857"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5191,
          "referenceAllele": "A",
          "start": 5190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003437",
      "geneNCBI_id": 2073,
      "geneSymbol": "ERCC5",
      "hgvs": [
        "ENST00000683246.1:n.5191A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828228"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3784,
          "referenceAllele": "A",
          "start": 3783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003437",
      "geneNCBI_id": 2073,
      "geneSymbol": "ERCC5",
      "hgvs": [
        "ENST00000683642.1:n.3784A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828613"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5100,
          "referenceAllele": "A",
          "start": 5099
        }
      ],
      "gene": "http://reg.genome.network/gene/GN043690",
      "geneNCBI_id": 100533467,
      "geneSymbol": "BIVM-ERCC5",
      "hgvs": [
        "ENST00000639132.1:c.4229A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492684.1:p.Lys1410Thr",
        "hgvsWellDefined": "ENSP00000492684.1:p.Lys1410Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764881"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5534,
          "referenceAllele": "A",
          "start": 5533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN043690",
      "geneNCBI_id": 100533467,
      "geneSymbol": "BIVM-ERCC5",
      "hgvs": [
        "ENST00000639435.1:c.4916A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491742.1:p.Lys1639Thr",
        "hgvsWellDefined": "ENSP00000491742.1:p.Lys1639Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765025"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4135,
          "referenceAllele": "A",
          "start": 4134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003437",
      "geneNCBI_id": 2073,
      "geneSymbol": "ERCC5",
      "hgvs": [
        "ENST00000651002.1:c.*3315A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498809.1:n.*3315A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771415"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3681,
          "referenceAllele": "A",
          "start": 3680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003437",
      "geneNCBI_id": 2073,
      "geneSymbol": "ERCC5",
      "hgvs": [
        "ENST00000651055.1:n.3681A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771443"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3922,
          "referenceAllele": "A",
          "start": 3921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003437",
      "geneNCBI_id": 2073,
      "geneSymbol": "ERCC5",
      "hgvs": [
        "ENST00000651281.1:n.3922A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771574"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3789,
          "referenceAllele": "A",
          "start": 3788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003437",
      "geneNCBI_id": 2073,
      "geneSymbol": "ERCC5",
      "hgvs": [
        "ENST00000652225.2:c.3554A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498881.2:p.Lys1185Thr",
        "hgvsWellDefined": "ENSP00000498881.2:p.Lys1185Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772086",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000652225.2:c.3554A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000123.4:c.3554A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498881.2:p.Lys1185Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000114.3:p.Lys1185Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3947,
          "referenceAllele": "A",
          "start": 3946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003437",
      "geneNCBI_id": 2073,
      "geneSymbol": "ERCC5",
      "hgvs": [
        "ENST00000652613.1:c.3050A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498357.1:p.Lys1017Thr",
        "hgvsWellDefined": "ENSP00000498357.1:p.Lys1017Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772311"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4977,
          "referenceAllele": "A",
          "start": 4976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003437",
      "geneNCBI_id": 2073,
      "geneSymbol": "ERCC5",
      "hgvs": [
        "ENST00000355739.8:c.3554A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347978.4:p.Lys1185Thr",
        "hgvsWellDefined": "ENSP00000347978.4:p.Lys1185Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263535"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2899,
          "referenceAllele": "A",
          "start": 2898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003437",
      "geneNCBI_id": 2073,
      "geneSymbol": "ERCC5",
      "hgvs": [
        "ENST00000375954.1:c.1253A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365121.1:p.Lys418Thr",
        "hgvsWellDefined": "ENSP00000365121.1:p.Lys418Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270951"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3561,
          "referenceAllele": "A",
          "start": 3560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003437",
      "geneNCBI_id": 2073,
      "geneSymbol": "ERCC5",
      "hgvs": [
        "ENST00000610537.4:c.3551A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478667.1:p.Lys1184Thr",
        "hgvsWellDefined": "ENSP00000478667.1:p.Lys1184Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400463"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3980,
          "referenceAllele": "A",
          "start": 3979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003437",
      "geneNCBI_id": 2073,
      "geneSymbol": "ERCC5",
      "hgvs": [
        "NM_000123.3:c.3554A>C",
        "LRG_464t1:c.3554A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000114.2:p.Lys1185Thr",
        "hgvsWellDefined": "NP_000114.2:p.Lys1185Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006185"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5038,
          "referenceAllele": "A",
          "start": 5037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN043690",
      "geneNCBI_id": 100533467,
      "geneSymbol": "BIVM-ERCC5",
      "hgvs": [
        "NM_001204425.1:c.4916A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191354.1:p.Lys1639Thr",
        "hgvsWellDefined": "NP_001191354.1:p.Lys1639Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017655"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825045999",
      "coordinates": [
        {
          "allele": "C",
          "end": 3789,
          "referenceAllele": "A",
          "start": 3788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003437",
      "geneNCBI_id": 2073,
      "geneSymbol": "ERCC5",
      "hgvs": [
        "NM_000123.4:c.3554A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000114.3:p.Lys1185Thr",
        "hgvsWellDefined": "NP_000114.3:p.Lys1185Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674712",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000652225.2:c.3554A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000123.4:c.3554A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498881.2:p.Lys1185Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000114.3:p.Lys1185Thr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499242105",
      "coordinates": [
        {
          "allele": "C",
          "end": 5038,
          "referenceAllele": "A",
          "start": 5037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN043690",
      "geneNCBI_id": 100533467,
      "geneSymbol": "BIVM-ERCC5",
      "hgvs": [
        "NM_001204425.2:c.4916A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191354.2:p.Lys1639Thr",
        "hgvsWellDefined": "NP_001191354.2:p.Lys1639Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679846"
    }
  ],
  "type": "nucleotide"
}