{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7738392",
  "communityStandardTitle": [
    "NM_000057.4(BLM):c.934T>G (p.Ser312Ala)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=465269[alleleid]",
        "alleleId": 465269,
        "preferredName": "NM_000057.4(BLM):c.934T>G (p.Ser312Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/454170",
        "RCV": [
          "RCV000543241",
          "RCV001800731",
          "RCV001019197"
        ],
        "variationId": 454170
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/15-91295151-T-G",
        "id": "15-91295151-T-G",
        "variant": "15:91295151 T / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.91295151T>G?assembly=hg19",
        "id": "chr15:g.91295151T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.90751921T>G?assembly=hg38",
        "id": "chr15:g.90751921T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/372454889",
        "rs": 372454889
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-91295151-T-G?dataset=gnomad_r2_1",
        "id": "15-91295151-T-G",
        "variant": "15:91295151 T / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-90751921-T-G?dataset=gnomad_r3",
        "id": "15-90751921-T-G",
        "variant": "15:90751921 T / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-90751921-T-G?dataset=gnomad_r4",
        "id": "15-90751921-T-G",
        "variant": "15:90751921 T / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 90751921,
          "referenceAllele": "T",
          "start": 90751920
        }
      ],
      "hgvs": [
        "NC_000015.10:g.90751921T>G",
        "CM000677.2:g.90751921T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 91295151,
          "referenceAllele": "T",
          "start": 91295150
        }
      ],
      "hgvs": [
        "NC_000015.9:g.91295151T>G",
        "CM000677.1:g.91295151T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 89096155,
          "referenceAllele": "T",
          "start": 89096154
        }
      ],
      "hgvs": [
        "NC_000015.8:g.89096155T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 39550,
          "referenceAllele": "T",
          "start": 39549
        }
      ],
      "hgvs": [
        "NG_007272.1:g.39550T>G",
        "LRG_20:g.39550T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000520"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1033,
          "referenceAllele": "T",
          "start": 1032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000355112.8:c.934T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347232.3:p.Ser312Ala",
        "hgvsWellDefined": "ENSP00000347232.3:p.Ser312Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748636",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355112.8:c.934T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000057.4:c.934T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347232.3:p.Ser312Ala"
          },
          "RefSeq": {
            "hgvs": "NP_000048.1:p.Ser312Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1016,
          "referenceAllele": "T",
          "start": 1015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000648453.1:c.934T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497646.1:p.Ser312Ala",
        "hgvsWellDefined": "ENSP00000497646.1:p.Ser312Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769991"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1010,
          "referenceAllele": "T",
          "start": 1009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000680772.1:c.934T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506117.1:p.Ser312Ala",
        "hgvsWellDefined": "ENSP00000506117.1:p.Ser312Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780387"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1016,
          "referenceAllele": "T",
          "start": 1015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000681142.1:c.934T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506682.1:p.Ser312Ala",
        "hgvsWellDefined": "ENSP00000506682.1:p.Ser312Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780754"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1052,
          "referenceAllele": "T",
          "start": 1051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000355112.7:c.934T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347232.3:p.Ser312Ala",
        "hgvsWellDefined": "ENSP00000347232.3:p.Ser312Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263336"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 195,
          "referenceAllele": "T",
          "start": 194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000558599.1:n.195T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS373927"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 975,
          "referenceAllele": "T",
          "start": 974
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000559724.5:c.934T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453359.1:p.Ser312Ala",
        "hgvsWellDefined": "ENSP00000453359.1:p.Ser312Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374810"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 985,
          "referenceAllele": "T",
          "start": 984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000560509.5:c.934T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454158.1:p.Ser312Ala",
        "hgvsWellDefined": "ENSP00000454158.1:p.Ser312Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375398"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658678019",
      "coordinates": [
        {
          "allele": "G",
          "end": 1052,
          "referenceAllele": "T",
          "start": 1051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_000057.3:c.934T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000048.1:p.Ser312Ala",
        "hgvsWellDefined": "NP_000048.1:p.Ser312Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006122"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826736708",
      "coordinates": [
        {
          "allele": "G",
          "end": 1162,
          "referenceAllele": "T",
          "start": 1161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287246.1:c.934T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274175.1:p.Ser312Ala",
        "hgvsWellDefined": "NP_001274175.1:p.Ser312Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023283"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916015823",
      "coordinates": [
        {
          "allele": "G",
          "end": 1052,
          "referenceAllele": "T",
          "start": 1051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287247.1:c.934T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274176.1:p.Ser312Ala",
        "hgvsWellDefined": "NP_001274176.1:p.Ser312Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023284"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1052,
          "referenceAllele": "T",
          "start": 1051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287248.1:c.-358T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274177.1:n.-358T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023285"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 195,
          "referenceAllele": "T",
          "start": 194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_011521881.1:c.-248T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520183.1:n.-248T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089040"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1040,
          "referenceAllele": "T",
          "start": 1039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_011521882.1:c.934T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520184.1:p.Ser312Ala",
        "hgvsWellDefined": "XP_011520184.1:p.Ser312Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089041"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 220,
          "referenceAllele": "T",
          "start": 219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_011521881.2:c.-248T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520183.1:n.-248T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546362"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 981,
          "referenceAllele": "T",
          "start": 980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_011521882.3:c.934T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520184.1:p.Ser312Ala",
        "hgvsWellDefined": "XP_011520184.1:p.Ser312Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546363"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658678019",
      "coordinates": [
        {
          "allele": "G",
          "end": 1033,
          "referenceAllele": "T",
          "start": 1032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_000057.4:c.934T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000048.1:p.Ser312Ala",
        "hgvsWellDefined": "NP_000048.1:p.Ser312Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662304",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355112.8:c.934T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000057.4:c.934T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347232.3:p.Ser312Ala"
          },
          "RefSeq": {
            "hgvs": "NP_000048.1:p.Ser312Ala"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826736708",
      "coordinates": [
        {
          "allele": "G",
          "end": 1143,
          "referenceAllele": "T",
          "start": 1142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287246.2:c.934T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274175.1:p.Ser312Ala",
        "hgvsWellDefined": "NP_001274175.1:p.Ser312Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682382"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916015823",
      "coordinates": [
        {
          "allele": "G",
          "end": 1033,
          "referenceAllele": "T",
          "start": 1032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287247.2:c.934T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274176.1:p.Ser312Ala",
        "hgvsWellDefined": "NP_001274176.1:p.Ser312Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682383"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1033,
          "referenceAllele": "T",
          "start": 1032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287248.2:c.-358T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274177.1:n.-358T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682384"
    }
  ],
  "type": "nucleotide"
}