{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA393846976",
  "communityStandardTitle": [
    "NM_000057.4(BLM):c.3163T>A (p.Cys1055Ser)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.91337540T>A?assembly=hg19",
        "id": "chr15:g.91337540T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.90794310T>A?assembly=hg38",
        "id": "chr15:g.90794310T>A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 90794310,
          "referenceAllele": "T",
          "start": 90794309
        }
      ],
      "hgvs": [
        "NC_000015.10:g.90794310T>A",
        "CM000677.2:g.90794310T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 91337540,
          "referenceAllele": "T",
          "start": 91337539
        }
      ],
      "hgvs": [
        "NC_000015.9:g.91337540T>A",
        "CM000677.1:g.91337540T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 89138544,
          "referenceAllele": "T",
          "start": 89138543
        }
      ],
      "hgvs": [
        "NC_000015.8:g.89138544T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 81939,
          "referenceAllele": "T",
          "start": 81938
        }
      ],
      "hgvs": [
        "NG_007272.1:g.81939T>A",
        "LRG_20:g.81939T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000520"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3262,
          "referenceAllele": "T",
          "start": 3261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000355112.8:c.3163T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347232.3:p.Cys1055Ser",
        "hgvsWellDefined": "ENSP00000347232.3:p.Cys1055Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748636",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355112.8:c.3163T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000057.4:c.3163T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347232.3:p.Cys1055Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000048.1:p.Cys1055Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1736,
          "referenceAllele": "T",
          "start": 1735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000560559.2:n.1736T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760296"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3245,
          "referenceAllele": "T",
          "start": 3244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000648453.1:c.3163T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497646.1:p.Cys1055Ser",
        "hgvsWellDefined": "ENSP00000497646.1:p.Cys1055Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769991"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3239,
          "referenceAllele": "T",
          "start": 3238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000680772.1:c.3163T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506117.1:p.Cys1055Ser",
        "hgvsWellDefined": "ENSP00000506117.1:p.Cys1055Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780387"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3245,
          "referenceAllele": "T",
          "start": 3244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000681142.1:c.3163T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506682.1:p.Cys1055Ser",
        "hgvsWellDefined": "ENSP00000506682.1:p.Cys1055Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780754"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3281,
          "referenceAllele": "T",
          "start": 3280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000355112.7:c.3163T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347232.3:p.Cys1055Ser",
        "hgvsWellDefined": "ENSP00000347232.3:p.Cys1055Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263336"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 510,
          "referenceAllele": "T",
          "start": 509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000558825.5:n.510T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS374101"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3370,
          "referenceAllele": "T",
          "start": 3369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000559724.5:c.*2087T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453359.1:n.*2087T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374810"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1189,
          "referenceAllele": "T",
          "start": 1188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000560136.5:n.1189T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS375127"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3214,
          "referenceAllele": "T",
          "start": 3213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000560509.5:c.3163T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454158.1:p.Cys1055Ser",
        "hgvsWellDefined": "ENSP00000454158.1:p.Cys1055Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375398"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 700,
          "referenceAllele": "T",
          "start": 699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000560559.1:n.700T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS375437"
    },
    {
      "@id": "http://reg.genome.network/allele/PA093438",
      "coordinates": [
        {
          "allele": "A",
          "end": 3281,
          "referenceAllele": "T",
          "start": 3280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_000057.3:c.3163T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000048.1:p.Cys1055Ser",
        "hgvsWellDefined": "NP_000048.1:p.Cys1055Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006122"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826738296",
      "coordinates": [
        {
          "allele": "A",
          "end": 3391,
          "referenceAllele": "T",
          "start": 3390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287246.1:c.3163T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274175.1:p.Cys1055Ser",
        "hgvsWellDefined": "NP_001274175.1:p.Cys1055Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023283"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826739842",
      "coordinates": [
        {
          "allele": "A",
          "end": 3281,
          "referenceAllele": "T",
          "start": 3280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287247.1:c.3163T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274176.1:p.Cys1055Ser",
        "hgvsWellDefined": "NP_001274176.1:p.Cys1055Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023284"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916016450",
      "coordinates": [
        {
          "allele": "A",
          "end": 3447,
          "referenceAllele": "T",
          "start": 3446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287248.1:c.2038T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274177.1:p.Cys680Ser",
        "hgvsWellDefined": "NP_001274177.1:p.Cys680Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023285"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1340,
          "referenceAllele": "T",
          "start": 1339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_006720632.2:c.1201T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720695.1:p.Cys401Ser",
        "hgvsWellDefined": "XP_006720695.1:p.Cys401Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073741"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2291,
          "referenceAllele": "T",
          "start": 2290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_011521881.1:c.1849T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520183.1:p.Cys617Ser",
        "hgvsWellDefined": "XP_011520183.1:p.Cys617Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089040"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2316,
          "referenceAllele": "T",
          "start": 2315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_011521881.2:c.1849T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520183.1:p.Cys617Ser",
        "hgvsWellDefined": "XP_011520183.1:p.Cys617Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546362"
    },
    {
      "@id": "http://reg.genome.network/allele/PA093438",
      "coordinates": [
        {
          "allele": "A",
          "end": 3262,
          "referenceAllele": "T",
          "start": 3261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_000057.4:c.3163T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000048.1:p.Cys1055Ser",
        "hgvsWellDefined": "NP_000048.1:p.Cys1055Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662304",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355112.8:c.3163T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000057.4:c.3163T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347232.3:p.Cys1055Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000048.1:p.Cys1055Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826738296",
      "coordinates": [
        {
          "allele": "A",
          "end": 3372,
          "referenceAllele": "T",
          "start": 3371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287246.2:c.3163T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274175.1:p.Cys1055Ser",
        "hgvsWellDefined": "NP_001274175.1:p.Cys1055Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682382"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826739842",
      "coordinates": [
        {
          "allele": "A",
          "end": 3262,
          "referenceAllele": "T",
          "start": 3261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287247.2:c.3163T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274176.1:p.Cys1055Ser",
        "hgvsWellDefined": "NP_001274176.1:p.Cys1055Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682383"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916016450",
      "coordinates": [
        {
          "allele": "A",
          "end": 3428,
          "referenceAllele": "T",
          "start": 3427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287248.2:c.2038T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274177.1:p.Cys680Ser",
        "hgvsWellDefined": "NP_001274177.1:p.Cys680Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682384"
    }
  ],
  "type": "nucleotide"
}