{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA200943192",
  "communityStandardTitle": [
    "NM_139027.6(ADAMTS13):c.3178C>A (p.Arg1060=)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.133454548C>A?assembly=hg38",
        "id": "chr9:g.133454548C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/142572218",
        "rs": 142572218
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-133454548-C-A?dataset=gnomad_r4",
        "id": "9-133454548-C-A",
        "variant": "9:133454548 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 133454548,
          "referenceAllele": "C",
          "start": 133454547
        }
      ],
      "hgvs": [
        "NC_000009.12:g.133454548C>A",
        "CM000671.2:g.133454548C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 135309491,
          "referenceAllele": "C",
          "start": 135309490
        }
      ],
      "hgvs": [
        "NC_000009.10:g.135309491C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 45210,
          "referenceAllele": "C",
          "start": 45209
        }
      ],
      "hgvs": [
        "NG_011934.2:g.45210C>A",
        "LRG_544:g.45210C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002061"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3255,
          "referenceAllele": "C",
          "start": 3254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001366",
      "geneNCBI_id": 11093,
      "geneSymbol": "ADAMTS13",
      "hgvs": [
        "ENST00000355699.7:c.3178C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347927.2:p.Arg1060="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748708",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355699.7:c.3178C>A"
          },
          "RefSeq": {
            "hgvs": "NM_139027.6:c.3178C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347927.2:p.Arg1060="
          },
          "RefSeq": {
            "hgvs": "NP_620596.2:p.Arg1060="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3298,
          "referenceAllele": "C",
          "start": 3297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001366",
      "geneNCBI_id": 11093,
      "geneSymbol": "ADAMTS13",
      "hgvs": [
        "ENST00000355699.6:c.3178C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347927.2:p.Arg1060="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263520"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3205,
          "referenceAllele": "C",
          "start": 3204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001366",
      "geneNCBI_id": 11093,
      "geneSymbol": "ADAMTS13",
      "hgvs": [
        "ENST00000356589.6:c.3085C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348997.2:p.Arg1029="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263811"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3170,
          "referenceAllele": "C",
          "start": 3169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001366",
      "geneNCBI_id": 11093,
      "geneSymbol": "ADAMTS13",
      "hgvs": [
        "ENST00000371916.5:c.*647C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360984.2:n.*647C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268820"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3622,
          "referenceAllele": "C",
          "start": 3621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001366",
      "geneNCBI_id": 11093,
      "geneSymbol": "ADAMTS13",
      "hgvs": [
        "ENST00000371929.7:c.3178C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360997.3:p.Arg1060="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268829"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1994,
          "referenceAllele": "C",
          "start": 1993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001366",
      "geneNCBI_id": 11093,
      "geneSymbol": "ADAMTS13",
      "hgvs": [
        "ENST00000485925.5:n.1994C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324843"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3622,
          "referenceAllele": "C",
          "start": 3621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001366",
      "geneNCBI_id": 11093,
      "geneSymbol": "ADAMTS13",
      "hgvs": [
        "NM_139025.4:c.3178C>A",
        "LRG_544t1:c.3178C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_620594.1:p.Arg1060="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040955"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3529,
          "referenceAllele": "C",
          "start": 3528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001366",
      "geneNCBI_id": 11093,
      "geneSymbol": "ADAMTS13",
      "hgvs": [
        "NM_139026.4:c.3085C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_620595.1:p.Arg1029="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040956"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075636638",
      "coordinates": [
        {
          "allele": "A",
          "end": 3622,
          "referenceAllele": "C",
          "start": 3621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001366",
      "geneNCBI_id": 11093,
      "geneSymbol": "ADAMTS13",
      "hgvs": [
        "NM_139027.4:c.3178C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_620596.2:p.Arg1060="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040957"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2013,
          "referenceAllele": "C",
          "start": 2012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001366",
      "geneNCBI_id": 11093,
      "geneSymbol": "ADAMTS13",
      "hgvs": [
        "NR_024514.2:n.2013C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS047021"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3095,
          "referenceAllele": "C",
          "start": 3094
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001366",
      "geneNCBI_id": 11093,
      "geneSymbol": "ADAMTS13",
      "hgvs": [
        "XM_011518174.1:c.2788C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516476.1:p.Arg930="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085350"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4403,
          "referenceAllele": "C",
          "start": 4402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001366",
      "geneNCBI_id": 11093,
      "geneSymbol": "ADAMTS13",
      "hgvs": [
        "XM_011518175.1:c.3178C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516477.1:p.Arg1060="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085351"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2274,
          "referenceAllele": "C",
          "start": 2273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001366",
      "geneNCBI_id": 11093,
      "geneSymbol": "ADAMTS13",
      "hgvs": [
        "XM_011518176.1:c.2194C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516478.1:p.Arg732="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085352"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2268,
          "referenceAllele": "C",
          "start": 2267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001366",
      "geneNCBI_id": 11093,
      "geneSymbol": "ADAMTS13",
      "hgvs": [
        "XM_011518177.1:c.2188C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516479.1:p.Arg730="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085353"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1948,
          "referenceAllele": "C",
          "start": 1947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001366",
      "geneNCBI_id": 11093,
      "geneSymbol": "ADAMTS13",
      "hgvs": [
        "XM_011518178.1:c.1843C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516480.1:p.Arg615="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085354"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1991,
          "referenceAllele": "C",
          "start": 1990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001366",
      "geneNCBI_id": 11093,
      "geneSymbol": "ADAMTS13",
      "hgvs": [
        "XM_011518179.1:c.1843C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516481.1:p.Arg615="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085355"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2669,
          "referenceAllele": "C",
          "start": 2668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001366",
      "geneNCBI_id": 11093,
      "geneSymbol": "ADAMTS13",
      "hgvs": [
        "XM_011518180.1:c.1444C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516482.1:p.Arg482="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085356"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2274,
          "referenceAllele": "C",
          "start": 2273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001366",
      "geneNCBI_id": 11093,
      "geneSymbol": "ADAMTS13",
      "hgvs": [
        "XM_011518176.3:c.2194C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516478.1:p.Arg732="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544806"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1948,
          "referenceAllele": "C",
          "start": 1947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001366",
      "geneNCBI_id": 11093,
      "geneSymbol": "ADAMTS13",
      "hgvs": [
        "XM_011518178.2:c.1843C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516480.1:p.Arg615="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544807"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3833,
          "referenceAllele": "C",
          "start": 3832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001366",
      "geneNCBI_id": 11093,
      "geneSymbol": "ADAMTS13",
      "hgvs": [
        "XM_017014232.1:c.3166C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869721.1:p.Arg1056="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567255"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3234,
          "referenceAllele": "C",
          "start": 3233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001366",
      "geneNCBI_id": 11093,
      "geneSymbol": "ADAMTS13",
      "hgvs": [
        "XM_017014233.1:c.2788C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869722.1:p.Arg930="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567256"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2422,
          "referenceAllele": "C",
          "start": 2421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001366",
      "geneNCBI_id": 11093,
      "geneSymbol": "ADAMTS13",
      "hgvs": [
        "XM_017014234.2:c.2188C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869723.1:p.Arg730="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567257"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3162,
          "referenceAllele": "C",
          "start": 3161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001366",
      "geneNCBI_id": 11093,
      "geneSymbol": "ADAMTS13",
      "hgvs": [
        "NM_139026.5:c.3085C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_620595.1:p.Arg1029="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699826"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075636638",
      "coordinates": [
        {
          "allele": "A",
          "end": 3255,
          "referenceAllele": "C",
          "start": 3254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001366",
      "geneNCBI_id": 11093,
      "geneSymbol": "ADAMTS13",
      "hgvs": [
        "NM_139027.5:c.3178C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_620596.2:p.Arg1060="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699827"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3255,
          "referenceAllele": "C",
          "start": 3254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001366",
      "geneNCBI_id": 11093,
      "geneSymbol": "ADAMTS13",
      "hgvs": [
        "NM_139025.5:c.3178C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_620594.1:p.Arg1060="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729201"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3162,
          "referenceAllele": "C",
          "start": 3161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001366",
      "geneNCBI_id": 11093,
      "geneSymbol": "ADAMTS13",
      "hgvs": [
        "NM_139026.6:c.3085C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_620595.1:p.Arg1029="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729202"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075636638",
      "coordinates": [
        {
          "allele": "A",
          "end": 3255,
          "referenceAllele": "C",
          "start": 3254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001366",
      "geneNCBI_id": 11093,
      "geneSymbol": "ADAMTS13",
      "hgvs": [
        "NM_139027.6:c.3178C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_620596.2:p.Arg1060="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729203",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355699.7:c.3178C>A"
          },
          "RefSeq": {
            "hgvs": "NM_139027.6:c.3178C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347927.2:p.Arg1060="
          },
          "RefSeq": {
            "hgvs": "NP_620596.2:p.Arg1060="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2015,
          "referenceAllele": "C",
          "start": 2014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001366",
      "geneNCBI_id": 11093,
      "geneSymbol": "ADAMTS13",
      "hgvs": [
        "NR_024514.3:n.2015C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730190"
    }
  ],
  "type": "nucleotide"
}