{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2397958224",
  "communityStandardTitle": [
    "NM_003073.5(SMARCB1):c.34C= (p.Gln12=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/74315513",
        "rs": 74315513
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "C",
          "end": 23787203,
          "referenceAllele": "C",
          "start": 23787202
        }
      ],
      "hgvs": [
        "NC_000022.11:g.23787203C=",
        "CM000684.2:g.23787203C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "C",
          "end": 24129390,
          "referenceAllele": "C",
          "start": 24129389
        }
      ],
      "hgvs": [
        "NC_000022.10:g.24129390C=",
        "CM000684.1:g.24129390C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "C",
          "end": 22459390,
          "referenceAllele": "C",
          "start": 22459389
        }
      ],
      "hgvs": [
        "NC_000022.9:g.22459390C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5241,
          "referenceAllele": "C",
          "start": 5240
        }
      ],
      "hgvs": [
        "NG_009303.1:g.5241C=",
        "LRG_520:g.5241C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001558"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 193,
          "referenceAllele": "C",
          "start": 192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "ENST00000263121.12:c.34C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263121.8:p.Gln12="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742458"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 241,
          "referenceAllele": "C",
          "start": 240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "ENST00000344921.11:c.34C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340883.6:p.Gln12="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748262"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 187,
          "referenceAllele": "C",
          "start": 186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "ENST00000407082.4:c.34C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385226.4:p.Gln12="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754184"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 273,
          "referenceAllele": "C",
          "start": 272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "ENST00000407422.8:c.34C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383984.3:p.Gln12="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754194"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 177,
          "referenceAllele": "C",
          "start": 176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "ENST00000417137.6:c.34C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388489.2:p.Gln12="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754677"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 224,
          "referenceAllele": "C",
          "start": 223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "ENST00000491967.2:n.224C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757697"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2,
          "referenceAllele": "C",
          "start": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "ENST00000643421.1:n.2C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767276"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 238,
          "referenceAllele": "C",
          "start": 237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "ENST00000644036.2:c.34C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494049.2:p.Gln12="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767601",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644036.2:c.34C="
          },
          "RefSeq": {
            "hgvs": "NM_003073.5:c.34C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494049.2:p.Gln12="
          },
          "RefSeq": {
            "hgvs": "NP_003064.2:p.Gln12="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 203,
          "referenceAllele": "C",
          "start": 202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "ENST00000644619.1:c.34C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494695.1:p.Gln12="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767903"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 226,
          "referenceAllele": "C",
          "start": 225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "ENST00000646421.1:n.226C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768864"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 22,
          "referenceAllele": "C",
          "start": 21
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "ENST00000646723.1:n.22C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769032"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 221,
          "referenceAllele": "C",
          "start": 220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "ENST00000647057.1:c.34C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494757.1:p.Gln12="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769211"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 230,
          "referenceAllele": "C",
          "start": 229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "ENST00000263121.11:c.34C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263121.7:p.Gln12="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251197"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 241,
          "referenceAllele": "C",
          "start": 240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "ENST00000344921.10:c.34C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340883.6:p.Gln12="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262091"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 193,
          "referenceAllele": "C",
          "start": 192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "ENST00000407082.3:c.34C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385226.3:p.Gln12="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280830"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 210,
          "referenceAllele": "C",
          "start": 209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "ENST00000407422.7:c.34C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383984.3:p.Gln12="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280908"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 241,
          "referenceAllele": "C",
          "start": 240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "ENST00000417137.5:c.34C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388489.1:p.Gln12="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS284779"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 241,
          "referenceAllele": "C",
          "start": 240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "NM_001007468.1:c.34C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001007469.1:p.Gln12="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007933"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3088578913",
      "coordinates": [
        {
          "allele": "C",
          "end": 241,
          "referenceAllele": "C",
          "start": 240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "NM_003073.3:c.34C=",
        "LRG_520t1:c.34C="
      ],
      "proteinEffect": {
        "hgvs": "NP_003064.2:p.Gln12="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028349"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 230,
          "referenceAllele": "C",
          "start": 229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "XM_011530345.1:c.34C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528647.1:p.Gln12="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097403"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 224,
          "referenceAllele": "C",
          "start": 223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "XM_011530346.1:c.34C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528648.1:p.Gln12="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097404"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 273,
          "referenceAllele": "C",
          "start": 272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "NM_001007468.2:c.34C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001007469.1:p.Gln12="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510957"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 273,
          "referenceAllele": "C",
          "start": 272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "NM_001317946.1:c.34C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001304875.1:p.Gln12="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512614"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 273,
          "referenceAllele": "C",
          "start": 272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "NM_001362877.1:c.34C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001349806.1:p.Gln12="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523093"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3088578913",
      "coordinates": [
        {
          "allele": "C",
          "end": 273,
          "referenceAllele": "C",
          "start": 272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "NM_003073.4:c.34C="
      ],
      "proteinEffect": {
        "hgvs": "NP_003064.2:p.Gln12="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525056"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 238,
          "referenceAllele": "C",
          "start": 237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "NM_001007468.3:c.34C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001007469.1:p.Gln12="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675289"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 238,
          "referenceAllele": "C",
          "start": 237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "NM_001317946.2:c.34C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001304875.1:p.Gln12="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684364"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 238,
          "referenceAllele": "C",
          "start": 237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "NM_001362877.2:c.34C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001349806.1:p.Gln12="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690561"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3088578913",
      "coordinates": [
        {
          "allele": "C",
          "end": 238,
          "referenceAllele": "C",
          "start": 237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "NM_003073.5:c.34C="
      ],
      "proteinEffect": {
        "hgvs": "NP_003064.2:p.Gln12="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695722",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644036.2:c.34C="
          },
          "RefSeq": {
            "hgvs": "NM_003073.5:c.34C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494049.2:p.Gln12="
          },
          "RefSeq": {
            "hgvs": "NP_003064.2:p.Gln12="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}