{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA492158366",
  "communityStandardTitle": [
    "NM_000057.4(BLM):c.1095G>A (p.Gln365=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1955281[alleleid]",
        "alleleId": 1955281,
        "preferredName": "NM_000057.4(BLM):c.1095G>A (p.Gln365=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1907135",
        "RCV": [
          "RCV002578001"
        ],
        "variationId": 1907135
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.91303384G>A?assembly=hg19",
        "id": "chr15:g.91303384G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2151157132",
        "rs": 2151157132
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 90760154,
          "referenceAllele": "G",
          "start": 90760153
        }
      ],
      "hgvs": [
        "NC_000015.10:g.90760154G>A",
        "CM000677.2:g.90760154G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 91303384,
          "referenceAllele": "G",
          "start": 91303383
        }
      ],
      "hgvs": [
        "NC_000015.9:g.91303384G>A",
        "CM000677.1:g.91303384G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 89104388,
          "referenceAllele": "G",
          "start": 89104387
        }
      ],
      "hgvs": [
        "NC_000015.8:g.89104388G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 47783,
          "referenceAllele": "G",
          "start": 47782
        }
      ],
      "hgvs": [
        "NG_007272.1:g.47783G>A",
        "LRG_20:g.47783G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000520"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1194,
          "referenceAllele": "G",
          "start": 1193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000355112.8:c.1095G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347232.3:p.Gln365="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748636",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355112.8:c.1095G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000057.4:c.1095G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347232.3:p.Gln365="
          },
          "RefSeq": {
            "hgvs": "NP_000048.1:p.Gln365="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1177,
          "referenceAllele": "G",
          "start": 1176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000648453.1:c.1095G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497646.1:p.Gln365="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769991"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1171,
          "referenceAllele": "G",
          "start": 1170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000680772.1:c.1095G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506117.1:p.Gln365="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780387"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1177,
          "referenceAllele": "G",
          "start": 1176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000681142.1:c.1095G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506682.1:p.Gln365="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780754"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1213,
          "referenceAllele": "G",
          "start": 1212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000355112.7:c.1095G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347232.3:p.Gln365="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263336"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 348,
          "endIntronDirection": "-",
          "endIntronOffset": 439,
          "referenceAllele": "G",
          "start": 348,
          "startIntronDirection": "-",
          "startIntronOffset": 440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000558599.1:n.349-440G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS373927"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1302,
          "referenceAllele": "G",
          "start": 1301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000559724.5:c.*19G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453359.1:n.*19G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374810"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1146,
          "referenceAllele": "G",
          "start": 1145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000560509.5:c.1095G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454158.1:p.Gln365="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375398"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825040304",
      "coordinates": [
        {
          "allele": "A",
          "end": 1213,
          "referenceAllele": "G",
          "start": 1212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_000057.3:c.1095G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000048.1:p.Gln365="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006122"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826736829",
      "coordinates": [
        {
          "allele": "A",
          "end": 1323,
          "referenceAllele": "G",
          "start": 1322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287246.1:c.1095G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274175.1:p.Gln365="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023283"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826739241",
      "coordinates": [
        {
          "allele": "A",
          "end": 1213,
          "referenceAllele": "G",
          "start": 1212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287247.1:c.1095G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274176.1:p.Gln365="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023284"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1379,
          "referenceAllele": "G",
          "start": 1378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287248.1:c.-31G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274177.1:n.-31G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023285"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 348,
          "endIntronDirection": "-",
          "endIntronOffset": 439,
          "referenceAllele": "G",
          "start": 348,
          "startIntronDirection": "-",
          "startIntronOffset": 440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_011521881.1:c.-94-440G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520183.1:n.-94-440G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089040"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1201,
          "referenceAllele": "G",
          "start": 1200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_011521882.1:c.1095G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520184.1:p.Gln365="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089041"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 373,
          "endIntronDirection": "-",
          "endIntronOffset": 439,
          "referenceAllele": "G",
          "start": 373,
          "startIntronDirection": "-",
          "startIntronOffset": 440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_011521881.2:c.-94-440G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520183.1:n.-94-440G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546362"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1142,
          "referenceAllele": "G",
          "start": 1141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_011521882.3:c.1095G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520184.1:p.Gln365="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546363"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825040304",
      "coordinates": [
        {
          "allele": "A",
          "end": 1194,
          "referenceAllele": "G",
          "start": 1193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_000057.4:c.1095G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000048.1:p.Gln365="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662304",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355112.8:c.1095G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000057.4:c.1095G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347232.3:p.Gln365="
          },
          "RefSeq": {
            "hgvs": "NP_000048.1:p.Gln365="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826736829",
      "coordinates": [
        {
          "allele": "A",
          "end": 1304,
          "referenceAllele": "G",
          "start": 1303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287246.2:c.1095G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274175.1:p.Gln365="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682382"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826739241",
      "coordinates": [
        {
          "allele": "A",
          "end": 1194,
          "referenceAllele": "G",
          "start": 1193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287247.2:c.1095G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274176.1:p.Gln365="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682383"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1360,
          "referenceAllele": "G",
          "start": 1359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287248.2:c.-31G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274177.1:n.-31G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682384"
    }
  ],
  "type": "nucleotide"
}