{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA393842167",
  "communityStandardTitle": [
    "NM_000057.4(BLM):c.1044G>C (p.Met348Ile)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.91298125G>C?assembly=hg19",
        "id": "chr15:g.91298125G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.90754895G>C?assembly=hg38",
        "id": "chr15:g.90754895G>C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 90754895,
          "referenceAllele": "G",
          "start": 90754894
        }
      ],
      "hgvs": [
        "NC_000015.10:g.90754895G>C",
        "CM000677.2:g.90754895G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 91298125,
          "referenceAllele": "G",
          "start": 91298124
        }
      ],
      "hgvs": [
        "NC_000015.9:g.91298125G>C",
        "CM000677.1:g.91298125G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 89099129,
          "referenceAllele": "G",
          "start": 89099128
        }
      ],
      "hgvs": [
        "NC_000015.8:g.89099129G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 42524,
          "referenceAllele": "G",
          "start": 42523
        }
      ],
      "hgvs": [
        "NG_007272.1:g.42524G>C",
        "LRG_20:g.42524G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000520"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1143,
          "referenceAllele": "G",
          "start": 1142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000355112.8:c.1044G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347232.3:p.Met348Ile",
        "hgvsWellDefined": "ENSP00000347232.3:p.Met348Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748636",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355112.8:c.1044G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000057.4:c.1044G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347232.3:p.Met348Ile"
          },
          "RefSeq": {
            "hgvs": "NP_000048.1:p.Met348Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1126,
          "referenceAllele": "G",
          "start": 1125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000648453.1:c.1044G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497646.1:p.Met348Ile",
        "hgvsWellDefined": "ENSP00000497646.1:p.Met348Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769991"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1120,
          "referenceAllele": "G",
          "start": 1119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000680772.1:c.1044G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506117.1:p.Met348Ile",
        "hgvsWellDefined": "ENSP00000506117.1:p.Met348Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780387"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1126,
          "referenceAllele": "G",
          "start": 1125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000681142.1:c.1044G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506682.1:p.Met348Ile",
        "hgvsWellDefined": "ENSP00000506682.1:p.Met348Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780754"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1162,
          "referenceAllele": "G",
          "start": 1161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000355112.7:c.1044G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347232.3:p.Met348Ile",
        "hgvsWellDefined": "ENSP00000347232.3:p.Met348Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263336"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 305,
          "referenceAllele": "G",
          "start": 304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000558599.1:n.305G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS373927"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1085,
          "referenceAllele": "G",
          "start": 1084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000559724.5:c.1044G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453359.1:p.Met348Ile",
        "hgvsWellDefined": "ENSP00000453359.1:p.Met348Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374810"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1095,
          "referenceAllele": "G",
          "start": 1094
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000560509.5:c.1044G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454158.1:p.Met348Ile",
        "hgvsWellDefined": "ENSP00000454158.1:p.Met348Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375398"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645487890",
      "coordinates": [
        {
          "allele": "C",
          "end": 1162,
          "referenceAllele": "G",
          "start": 1161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_000057.3:c.1044G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000048.1:p.Met348Ile",
        "hgvsWellDefined": "NP_000048.1:p.Met348Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006122"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826736786",
      "coordinates": [
        {
          "allele": "C",
          "end": 1272,
          "referenceAllele": "G",
          "start": 1271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287246.1:c.1044G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274175.1:p.Met348Ile",
        "hgvsWellDefined": "NP_001274175.1:p.Met348Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023283"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916015844",
      "coordinates": [
        {
          "allele": "C",
          "end": 1162,
          "referenceAllele": "G",
          "start": 1161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287247.1:c.1044G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274176.1:p.Met348Ile",
        "hgvsWellDefined": "NP_001274176.1:p.Met348Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023284"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1162,
          "referenceAllele": "G",
          "start": 1161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287248.1:c.-248G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274177.1:n.-248G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023285"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 305,
          "referenceAllele": "G",
          "start": 304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_011521881.1:c.-138G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520183.1:n.-138G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089040"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1150,
          "referenceAllele": "G",
          "start": 1149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_011521882.1:c.1044G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520184.1:p.Met348Ile",
        "hgvsWellDefined": "XP_011520184.1:p.Met348Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089041"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 330,
          "referenceAllele": "G",
          "start": 329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_011521881.2:c.-138G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520183.1:n.-138G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546362"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1091,
          "referenceAllele": "G",
          "start": 1090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_011521882.3:c.1044G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520184.1:p.Met348Ile",
        "hgvsWellDefined": "XP_011520184.1:p.Met348Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546363"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645487890",
      "coordinates": [
        {
          "allele": "C",
          "end": 1143,
          "referenceAllele": "G",
          "start": 1142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_000057.4:c.1044G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000048.1:p.Met348Ile",
        "hgvsWellDefined": "NP_000048.1:p.Met348Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662304",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355112.8:c.1044G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000057.4:c.1044G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347232.3:p.Met348Ile"
          },
          "RefSeq": {
            "hgvs": "NP_000048.1:p.Met348Ile"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826736786",
      "coordinates": [
        {
          "allele": "C",
          "end": 1253,
          "referenceAllele": "G",
          "start": 1252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287246.2:c.1044G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274175.1:p.Met348Ile",
        "hgvsWellDefined": "NP_001274175.1:p.Met348Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682382"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916015844",
      "coordinates": [
        {
          "allele": "C",
          "end": 1143,
          "referenceAllele": "G",
          "start": 1142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287247.2:c.1044G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274176.1:p.Met348Ile",
        "hgvsWellDefined": "NP_001274176.1:p.Met348Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682383"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1143,
          "referenceAllele": "G",
          "start": 1142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287248.2:c.-248G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274177.1:n.-248G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682384"
    }
  ],
  "type": "nucleotide"
}