{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10145918",
  "communityStandardTitle": [
    "NM_003073.5(SMARCB1):c.444C>T (p.Ser148=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=404329[alleleid]",
        "alleleId": 404329,
        "preferredName": "NM_003073.5(SMARCB1):c.444C>T (p.Ser148=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/416324",
        "RCV": [
          "RCV000568751",
          "RCV000592528",
          "RCV004551567"
        ],
        "variationId": 416324
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/22-24143212-C-T",
        "id": "22-24143212-C-T",
        "variant": "22:24143212 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.24143212C>T?assembly=hg19",
        "id": "chr22:g.24143212C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.23801025C>T?assembly=hg38",
        "id": "chr22:g.23801025C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/138184483",
        "rs": 138184483
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-24143212-C-T?dataset=gnomad_r2_1",
        "id": "22-24143212-C-T",
        "variant": "22:24143212 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-23801025-C-T?dataset=gnomad_r3",
        "id": "22-23801025-C-T",
        "variant": "22:23801025 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-23801025-C-T?dataset=gnomad_r4",
        "id": "22-23801025-C-T",
        "variant": "22:23801025 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 23801025,
          "referenceAllele": "C",
          "start": 23801024
        }
      ],
      "hgvs": [
        "NC_000022.11:g.23801025C>T",
        "CM000684.2:g.23801025C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 24143212,
          "referenceAllele": "C",
          "start": 24143211
        }
      ],
      "hgvs": [
        "NC_000022.10:g.24143212C>T",
        "CM000684.1:g.24143212C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 22473212,
          "referenceAllele": "C",
          "start": 22473211
        }
      ],
      "hgvs": [
        "NC_000022.9:g.22473212C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 19063,
          "referenceAllele": "C",
          "start": 19062
        }
      ],
      "hgvs": [
        "NG_009303.1:g.19063C>T",
        "LRG_520:g.19063C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001558"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 521,
          "endIntronDirection": "-",
          "endIntronOffset": 2269,
          "referenceAllele": "C",
          "start": 521,
          "startIntronDirection": "-",
          "startIntronOffset": 2270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "ENST00000263121.12:c.363-2270C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263121.8:n.363-2270C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742458"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 624,
          "referenceAllele": "C",
          "start": 623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "ENST00000344921.11:c.417C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340883.6:p.Ser139="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748262"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 488,
          "endIntronDirection": "-",
          "endIntronOffset": 2269,
          "referenceAllele": "C",
          "start": 488,
          "startIntronDirection": "-",
          "startIntronOffset": 2270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "ENST00000407082.4:c.336-2270C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385226.4:n.336-2270C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754184"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 656,
          "referenceAllele": "C",
          "start": 655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "ENST00000407422.8:c.417C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383984.3:p.Ser139="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754194"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 587,
          "referenceAllele": "C",
          "start": 586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "ENST00000417137.6:c.444C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388489.2:p.Ser148="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754677"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 607,
          "referenceAllele": "C",
          "start": 606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "ENST00000491967.2:n.607C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757697"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 412,
          "referenceAllele": "C",
          "start": 411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "ENST00000643421.1:n.412C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767276"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 648,
          "referenceAllele": "C",
          "start": 647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "ENST00000644036.2:c.444C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494049.2:p.Ser148="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767601",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644036.2:c.444C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003073.5:c.444C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494049.2:p.Ser148="
          },
          "RefSeq": {
            "hgvs": "NP_003064.2:p.Ser148="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 279,
          "referenceAllele": "C",
          "start": 278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "ENST00000644462.1:c.279C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494283.1:p.Ser93="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767825"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 613,
          "referenceAllele": "C",
          "start": 612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "ENST00000644619.1:c.444C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494695.1:p.Ser148="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767903"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2300,
          "referenceAllele": "C",
          "start": 2299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "ENST00000646421.1:n.2300C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768864"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 432,
          "referenceAllele": "C",
          "start": 431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "ENST00000646723.1:n.432C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769032"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 356,
          "referenceAllele": "C",
          "start": 355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "ENST00000646911.1:n.356C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769134"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 362,
          "referenceAllele": "C",
          "start": 361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "ENST00000647057.1:c.175C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494757.1:p.His59Tyr",
        "hgvsWellDefined": "ENSP00000494757.1:p.His59Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769211"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 640,
          "referenceAllele": "C",
          "start": 639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "ENST00000263121.11:c.444C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263121.7:p.Ser148="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251197"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 624,
          "referenceAllele": "C",
          "start": 623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "ENST00000344921.10:c.417C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340883.6:p.Ser139="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262091"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 521,
          "endIntronDirection": "-",
          "endIntronOffset": 2269,
          "referenceAllele": "C",
          "start": 521,
          "startIntronDirection": "-",
          "startIntronOffset": 2270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "ENST00000407082.3:c.363-2270C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385226.3:n.363-2270C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280830"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 593,
          "referenceAllele": "C",
          "start": 592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "ENST00000407422.7:c.417C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383984.3:p.Ser139="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280908"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 651,
          "referenceAllele": "C",
          "start": 650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "ENST00000417137.5:c.444C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388489.1:p.Ser148="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS284779"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 170,
          "referenceAllele": "C",
          "start": 169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "ENST00000491967.1:n.170C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS329458"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 241,
          "endIntronDirection": "+",
          "endIntronOffset": 55,
          "referenceAllele": "C",
          "start": 241,
          "startIntronDirection": "+",
          "startIntronOffset": 54
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "ENST00000634926.1:c.241+55C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407982"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 214,
          "endIntronDirection": "+",
          "endIntronOffset": 55,
          "referenceAllele": "C",
          "start": 214,
          "startIntronDirection": "+",
          "startIntronOffset": 54
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "ENST00000635578.1:c.214+55C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS408178"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825287088",
      "coordinates": [
        {
          "allele": "T",
          "end": 624,
          "referenceAllele": "C",
          "start": 623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "NM_001007468.1:c.417C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001007469.1:p.Ser139="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007933"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829410943",
      "coordinates": [
        {
          "allele": "T",
          "end": 651,
          "referenceAllele": "C",
          "start": 650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "NM_003073.3:c.444C>T",
        "LRG_520t1:c.444C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003064.2:p.Ser148="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028349"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 640,
          "referenceAllele": "C",
          "start": 639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "XM_011530345.1:c.444C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528647.1:p.Ser148="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097403"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 607,
          "referenceAllele": "C",
          "start": 606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "XM_011530346.1:c.417C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528648.1:p.Ser139="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097404"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825287088",
      "coordinates": [
        {
          "allele": "T",
          "end": 656,
          "referenceAllele": "C",
          "start": 655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "NM_001007468.2:c.417C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001007469.1:p.Ser139="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510957"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826973972",
      "coordinates": [
        {
          "allele": "T",
          "end": 656,
          "referenceAllele": "C",
          "start": 655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "NM_001317946.1:c.417C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001304875.1:p.Ser139="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512614"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828069627",
      "coordinates": [
        {
          "allele": "T",
          "end": 683,
          "referenceAllele": "C",
          "start": 682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "NM_001362877.1:c.444C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349806.1:p.Ser148="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523093"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829410943",
      "coordinates": [
        {
          "allele": "T",
          "end": 683,
          "referenceAllele": "C",
          "start": 682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "NM_003073.4:c.444C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003064.2:p.Ser148="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525056"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825287088",
      "coordinates": [
        {
          "allele": "T",
          "end": 621,
          "referenceAllele": "C",
          "start": 620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "NM_001007468.3:c.417C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001007469.1:p.Ser139="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675289"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826973972",
      "coordinates": [
        {
          "allele": "T",
          "end": 621,
          "referenceAllele": "C",
          "start": 620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "NM_001317946.2:c.417C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001304875.1:p.Ser139="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684364"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828069627",
      "coordinates": [
        {
          "allele": "T",
          "end": 648,
          "referenceAllele": "C",
          "start": 647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "NM_001362877.2:c.444C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349806.1:p.Ser148="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690561"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829410943",
      "coordinates": [
        {
          "allele": "T",
          "end": 648,
          "referenceAllele": "C",
          "start": 647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "NM_003073.5:c.444C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003064.2:p.Ser148="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695722",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644036.2:c.444C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003073.5:c.444C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494049.2:p.Ser148="
          },
          "RefSeq": {
            "hgvs": "NP_003064.2:p.Ser148="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}