{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA393842024",
  "communityStandardTitle": [
    "NM_000057.4(BLM):c.980C>T (p.Thr327Ile)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1825714[alleleid]",
        "alleleId": 1825714,
        "preferredName": "NM_000057.4(BLM):c.980C>T (p.Thr327Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1768281",
        "RCV": [
          "RCV002376807",
          "RCV003505248"
        ],
        "variationId": 1768281
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.91298061C>T?assembly=hg19",
        "id": "chr15:g.91298061C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.90754831C>T?assembly=hg38",
        "id": "chr15:g.90754831C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/748581308",
        "rs": 748581308
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-90754831-C-T?dataset=gnomad_r4",
        "id": "15-90754831-C-T",
        "variant": "15:90754831 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 90754831,
          "referenceAllele": "C",
          "start": 90754830
        }
      ],
      "hgvs": [
        "NC_000015.10:g.90754831C>T",
        "CM000677.2:g.90754831C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 91298061,
          "referenceAllele": "C",
          "start": 91298060
        }
      ],
      "hgvs": [
        "NC_000015.9:g.91298061C>T",
        "CM000677.1:g.91298061C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 89099065,
          "referenceAllele": "C",
          "start": 89099064
        }
      ],
      "hgvs": [
        "NC_000015.8:g.89099065C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 42460,
          "referenceAllele": "C",
          "start": 42459
        }
      ],
      "hgvs": [
        "NG_007272.1:g.42460C>T",
        "LRG_20:g.42460C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000520"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1079,
          "referenceAllele": "C",
          "start": 1078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000355112.8:c.980C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347232.3:p.Thr327Ile",
        "hgvsWellDefined": "ENSP00000347232.3:p.Thr327Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748636",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355112.8:c.980C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000057.4:c.980C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347232.3:p.Thr327Ile"
          },
          "RefSeq": {
            "hgvs": "NP_000048.1:p.Thr327Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1062,
          "referenceAllele": "C",
          "start": 1061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000648453.1:c.980C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497646.1:p.Thr327Ile",
        "hgvsWellDefined": "ENSP00000497646.1:p.Thr327Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769991"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1056,
          "referenceAllele": "C",
          "start": 1055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000680772.1:c.980C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506117.1:p.Thr327Ile",
        "hgvsWellDefined": "ENSP00000506117.1:p.Thr327Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780387"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1062,
          "referenceAllele": "C",
          "start": 1061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000681142.1:c.980C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506682.1:p.Thr327Ile",
        "hgvsWellDefined": "ENSP00000506682.1:p.Thr327Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780754"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1098,
          "referenceAllele": "C",
          "start": 1097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000355112.7:c.980C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347232.3:p.Thr327Ile",
        "hgvsWellDefined": "ENSP00000347232.3:p.Thr327Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263336"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 241,
          "referenceAllele": "C",
          "start": 240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000558599.1:n.241C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS373927"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1021,
          "referenceAllele": "C",
          "start": 1020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000559724.5:c.980C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453359.1:p.Thr327Ile",
        "hgvsWellDefined": "ENSP00000453359.1:p.Thr327Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374810"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1031,
          "referenceAllele": "C",
          "start": 1030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000560509.5:c.980C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454158.1:p.Thr327Ile",
        "hgvsWellDefined": "ENSP00000454158.1:p.Thr327Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375398"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825040222",
      "coordinates": [
        {
          "allele": "T",
          "end": 1098,
          "referenceAllele": "C",
          "start": 1097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_000057.3:c.980C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000048.1:p.Thr327Ile",
        "hgvsWellDefined": "NP_000048.1:p.Thr327Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006122"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826736738",
      "coordinates": [
        {
          "allele": "T",
          "end": 1208,
          "referenceAllele": "C",
          "start": 1207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287246.1:c.980C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274175.1:p.Thr327Ile",
        "hgvsWellDefined": "NP_001274175.1:p.Thr327Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023283"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580196251",
      "coordinates": [
        {
          "allele": "T",
          "end": 1098,
          "referenceAllele": "C",
          "start": 1097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287247.1:c.980C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274176.1:p.Thr327Ile",
        "hgvsWellDefined": "NP_001274176.1:p.Thr327Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023284"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1098,
          "referenceAllele": "C",
          "start": 1097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287248.1:c.-312C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274177.1:n.-312C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023285"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 241,
          "referenceAllele": "C",
          "start": 240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_011521881.1:c.-202C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520183.1:n.-202C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089040"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1086,
          "referenceAllele": "C",
          "start": 1085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_011521882.1:c.980C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520184.1:p.Thr327Ile",
        "hgvsWellDefined": "XP_011520184.1:p.Thr327Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089041"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 266,
          "referenceAllele": "C",
          "start": 265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_011521881.2:c.-202C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520183.1:n.-202C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546362"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1027,
          "referenceAllele": "C",
          "start": 1026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_011521882.3:c.980C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520184.1:p.Thr327Ile",
        "hgvsWellDefined": "XP_011520184.1:p.Thr327Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546363"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825040222",
      "coordinates": [
        {
          "allele": "T",
          "end": 1079,
          "referenceAllele": "C",
          "start": 1078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_000057.4:c.980C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000048.1:p.Thr327Ile",
        "hgvsWellDefined": "NP_000048.1:p.Thr327Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662304",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355112.8:c.980C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000057.4:c.980C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347232.3:p.Thr327Ile"
          },
          "RefSeq": {
            "hgvs": "NP_000048.1:p.Thr327Ile"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826736738",
      "coordinates": [
        {
          "allele": "T",
          "end": 1189,
          "referenceAllele": "C",
          "start": 1188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287246.2:c.980C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274175.1:p.Thr327Ile",
        "hgvsWellDefined": "NP_001274175.1:p.Thr327Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682382"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580196251",
      "coordinates": [
        {
          "allele": "T",
          "end": 1079,
          "referenceAllele": "C",
          "start": 1078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287247.2:c.980C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274176.1:p.Thr327Ile",
        "hgvsWellDefined": "NP_001274176.1:p.Thr327Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682383"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1079,
          "referenceAllele": "C",
          "start": 1078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287248.2:c.-312C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274177.1:n.-312C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682384"
    }
  ],
  "type": "nucleotide"
}