{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA471302577",
  "communityStandardTitle": [
    "NM_016169.4(SUFU):c.912C>T (p.Asp304=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1817852[alleleid]",
        "alleleId": 1817852,
        "preferredName": "NM_016169.4(SUFU):c.912C>T (p.Asp304=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1765902",
        "RCV": [
          "RCV003103562",
          "RCV002378731"
        ],
        "variationId": 1765902
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.104359191C>T?assembly=hg19",
        "id": "chr10:g.104359191C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2545100272",
        "rs": 2545100272
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-102599434-C-T?dataset=gnomad_r4",
        "id": "10-102599434-C-T",
        "variant": "10:102599434 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 102599434,
          "referenceAllele": "C",
          "start": 102599433
        }
      ],
      "hgvs": [
        "NC_000010.11:g.102599434C>T",
        "CM000672.2:g.102599434C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 104359191,
          "referenceAllele": "C",
          "start": 104359190
        }
      ],
      "hgvs": [
        "NC_000010.10:g.104359191C>T",
        "CM000672.1:g.104359191C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 104349181,
          "referenceAllele": "C",
          "start": 104349180
        }
      ],
      "hgvs": [
        "NC_000010.9:g.104349181C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 100473,
          "referenceAllele": "C",
          "start": 100472
        }
      ],
      "hgvs": [
        "NG_021338.1:g.100473C>T",
        "LRG_521:g.100473C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003579"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1093,
          "referenceAllele": "C",
          "start": 1092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "ENST00000369902.8:c.912C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358918.4:p.Asp304="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750502",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369902.8:c.912C>T"
          },
          "RefSeq": {
            "hgvs": "NM_016169.4:c.912C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358918.4:p.Asp304="
          },
          "RefSeq": {
            "hgvs": "NP_057253.2:p.Asp304="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1058,
          "referenceAllele": "C",
          "start": 1057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "ENST00000369899.6:c.912C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358915.2:p.Asp304="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267762"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1078,
          "referenceAllele": "C",
          "start": 1077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "ENST00000369902.7:c.912C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358918.3:p.Asp304="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267763"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 986,
          "referenceAllele": "C",
          "start": 985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "ENST00000423559.2:c.912C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411597.2:p.Asp304="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287820"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 694,
          "referenceAllele": "C",
          "start": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "ENST00000471000.1:n.694C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS313301"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826141200",
      "coordinates": [
        {
          "allele": "T",
          "end": 1103,
          "referenceAllele": "C",
          "start": 1102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "NM_001178133.1:c.912C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171604.1:p.Asp304="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015890"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829856819",
      "coordinates": [
        {
          "allele": "T",
          "end": 1103,
          "referenceAllele": "C",
          "start": 1102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "NM_016169.3:c.912C>T",
        "LRG_521t1:c.912C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_057253.2:p.Asp304="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034493"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1106,
          "referenceAllele": "C",
          "start": 1105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_011539858.1:c.915C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538160.1:p.Asp305="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106808"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1031,
          "referenceAllele": "C",
          "start": 1030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_011539859.1:c.915C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538161.1:p.Asp305="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106809"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1103,
          "referenceAllele": "C",
          "start": 1102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_011539860.1:c.912C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538162.1:p.Asp304="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106810"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 942,
          "referenceAllele": "C",
          "start": 941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_011539861.1:c.915C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538163.1:p.Asp305="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106811"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 960,
          "referenceAllele": "C",
          "start": 959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_011539862.1:c.837C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538164.1:p.Asp279="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106812"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 846,
          "referenceAllele": "C",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_011539863.1:c.741C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538165.1:p.Asp247="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106813"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 943,
          "referenceAllele": "C",
          "start": 942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_011539864.1:c.915C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538166.1:p.Asp305="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106814"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1096,
          "referenceAllele": "C",
          "start": 1095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_011539858.3:c.915C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538160.1:p.Asp305="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553830"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1093,
          "referenceAllele": "C",
          "start": 1092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_011539860.3:c.912C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538162.1:p.Asp304="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553831"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1096,
          "referenceAllele": "C",
          "start": 1095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_011539861.3:c.915C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538163.1:p.Asp305="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553832"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 919,
          "referenceAllele": "C",
          "start": 918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_011539863.3:c.741C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538165.1:p.Asp247="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553833"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1096,
          "referenceAllele": "C",
          "start": 1095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_011539864.3:c.915C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538166.1:p.Asp305="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553834"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1336,
          "referenceAllele": "C",
          "start": 1335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_017016323.1:c.837C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016871812.1:p.Asp279="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568792"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826141200",
      "coordinates": [
        {
          "allele": "T",
          "end": 1093,
          "referenceAllele": "C",
          "start": 1092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "NM_001178133.2:c.912C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171604.1:p.Asp304="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678956"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829856819",
      "coordinates": [
        {
          "allele": "T",
          "end": 1093,
          "referenceAllele": "C",
          "start": 1092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "NM_016169.4:c.912C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_057253.2:p.Asp304="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697677",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369902.8:c.912C>T"
          },
          "RefSeq": {
            "hgvs": "NM_016169.4:c.912C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358918.4:p.Asp304="
          },
          "RefSeq": {
            "hgvs": "NP_057253.2:p.Asp304="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}