{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA393850611",
  "communityStandardTitle": [
    "NM_000057.4(BLM):c.3922G>C (p.Gly1308Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=812406[alleleid]",
        "alleleId": 812406,
        "preferredName": "NM_000057.4(BLM):c.3922G>C (p.Gly1308Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/824387",
        "RCV": [
          "RCV001021448",
          "RCV001303467"
        ],
        "variationId": 824387
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.91354482G>C?assembly=hg19",
        "id": "chr15:g.91354482G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.90811252G>C?assembly=hg38",
        "id": "chr15:g.90811252G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/768010078",
        "rs": 768010078
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-91354482-G-C?dataset=gnomad_r2_1",
        "id": "15-91354482-G-C",
        "variant": "15:91354482 G / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-90811252-G-C?dataset=gnomad_r3",
        "id": "15-90811252-G-C",
        "variant": "15:90811252 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-90811252-G-C?dataset=gnomad_r4",
        "id": "15-90811252-G-C",
        "variant": "15:90811252 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 90811252,
          "referenceAllele": "G",
          "start": 90811251
        }
      ],
      "hgvs": [
        "NC_000015.10:g.90811252G>C",
        "CM000677.2:g.90811252G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 91354482,
          "referenceAllele": "G",
          "start": 91354481
        }
      ],
      "hgvs": [
        "NC_000015.9:g.91354482G>C",
        "CM000677.1:g.91354482G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 89155486,
          "referenceAllele": "G",
          "start": 89155485
        }
      ],
      "hgvs": [
        "NC_000015.8:g.89155486G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 98881,
          "referenceAllele": "G",
          "start": 98880
        }
      ],
      "hgvs": [
        "NG_007272.1:g.98881G>C",
        "LRG_20:g.98881G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000520"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4021,
          "referenceAllele": "G",
          "start": 4020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000355112.8:c.3922G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347232.3:p.Gly1308Arg",
        "hgvsWellDefined": "ENSP00000347232.3:p.Gly1308Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748636",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355112.8:c.3922G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000057.4:c.3922G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347232.3:p.Gly1308Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000048.1:p.Gly1308Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2495,
          "referenceAllele": "G",
          "start": 2494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000560559.2:n.2495G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760296"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4004,
          "referenceAllele": "G",
          "start": 4003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000648453.1:c.3922G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497646.1:p.Gly1308Arg",
        "hgvsWellDefined": "ENSP00000497646.1:p.Gly1308Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769991"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3998,
          "referenceAllele": "G",
          "start": 3997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000680772.1:c.3922G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506117.1:p.Gly1308Arg",
        "hgvsWellDefined": "ENSP00000506117.1:p.Gly1308Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780387"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4004,
          "referenceAllele": "G",
          "start": 4003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000681142.1:c.3922G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506682.1:p.Gly1308Arg",
        "hgvsWellDefined": "ENSP00000506682.1:p.Gly1308Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780754"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4040,
          "referenceAllele": "G",
          "start": 4039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000355112.7:c.3922G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347232.3:p.Gly1308Arg",
        "hgvsWellDefined": "ENSP00000347232.3:p.Gly1308Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263336"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1269,
          "referenceAllele": "G",
          "start": 1268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000558825.5:n.1269G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS374101"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4129,
          "referenceAllele": "G",
          "start": 4128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000559724.5:c.*2846G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453359.1:n.*2846G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374810"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1948,
          "referenceAllele": "G",
          "start": 1947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000560136.5:n.1948G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS375127"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3580,
          "referenceAllele": "G",
          "start": 3579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000560509.5:c.3529G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454158.1:p.Gly1177Arg",
        "hgvsWellDefined": "ENSP00000454158.1:p.Gly1177Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375398"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 342,
          "referenceAllele": "G",
          "start": 341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000560821.1:n.342G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS375636"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658802590",
      "coordinates": [
        {
          "allele": "C",
          "end": 4040,
          "referenceAllele": "G",
          "start": 4039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_000057.3:c.3922G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000048.1:p.Gly1308Arg",
        "hgvsWellDefined": "NP_000048.1:p.Gly1308Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006122"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826738832",
      "coordinates": [
        {
          "allele": "C",
          "end": 4150,
          "referenceAllele": "G",
          "start": 4149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287246.1:c.3922G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274175.1:p.Gly1308Arg",
        "hgvsWellDefined": "NP_001274175.1:p.Gly1308Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023283"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826740099",
      "coordinates": [
        {
          "allele": "C",
          "end": 3647,
          "referenceAllele": "G",
          "start": 3646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287247.1:c.3529G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274176.1:p.Gly1177Arg",
        "hgvsWellDefined": "NP_001274176.1:p.Gly1177Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023284"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916016629",
      "coordinates": [
        {
          "allele": "C",
          "end": 4206,
          "referenceAllele": "G",
          "start": 4205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287248.1:c.2797G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274177.1:p.Gly933Arg",
        "hgvsWellDefined": "NP_001274177.1:p.Gly933Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023285"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2099,
          "referenceAllele": "G",
          "start": 2098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_006720632.2:c.1960G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720695.1:p.Gly654Arg",
        "hgvsWellDefined": "XP_006720695.1:p.Gly654Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073741"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3050,
          "referenceAllele": "G",
          "start": 3049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_011521881.1:c.2608G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520183.1:p.Gly870Arg",
        "hgvsWellDefined": "XP_011520183.1:p.Gly870Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089040"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3075,
          "referenceAllele": "G",
          "start": 3074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_011521881.2:c.2608G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520183.1:p.Gly870Arg",
        "hgvsWellDefined": "XP_011520183.1:p.Gly870Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546362"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658802590",
      "coordinates": [
        {
          "allele": "C",
          "end": 4021,
          "referenceAllele": "G",
          "start": 4020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_000057.4:c.3922G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000048.1:p.Gly1308Arg",
        "hgvsWellDefined": "NP_000048.1:p.Gly1308Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662304",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355112.8:c.3922G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000057.4:c.3922G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347232.3:p.Gly1308Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000048.1:p.Gly1308Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826738832",
      "coordinates": [
        {
          "allele": "C",
          "end": 4131,
          "referenceAllele": "G",
          "start": 4130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287246.2:c.3922G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274175.1:p.Gly1308Arg",
        "hgvsWellDefined": "NP_001274175.1:p.Gly1308Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682382"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826740099",
      "coordinates": [
        {
          "allele": "C",
          "end": 3628,
          "referenceAllele": "G",
          "start": 3627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287247.2:c.3529G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274176.1:p.Gly1177Arg",
        "hgvsWellDefined": "NP_001274176.1:p.Gly1177Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682383"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916016629",
      "coordinates": [
        {
          "allele": "C",
          "end": 4187,
          "referenceAllele": "G",
          "start": 4186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287248.2:c.2797G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274177.1:p.Gly933Arg",
        "hgvsWellDefined": "NP_001274177.1:p.Gly933Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682384"
    }
  ],
  "type": "nucleotide"
}