{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5667863",
  "communityStandardTitle": [
    "NM_016169.4(SUFU):c.1027C>T (p.Arg343Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=397535[alleleid]",
        "alleleId": 397535,
        "preferredName": "NM_016169.4(SUFU):c.1027C>T (p.Arg343Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/406394",
        "RCV": [
          "RCV000456212",
          "RCV001017023",
          "RCV003463872"
        ],
        "variationId": 406394
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/10-104375029-C-T",
        "id": "10-104375029-C-T",
        "variant": "10:104375029 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.104375029C>T?assembly=hg19",
        "id": "chr10:g.104375029C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.102615272C>T?assembly=hg38",
        "id": "chr10:g.102615272C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/751728820",
        "rs": 751728820
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-104375029-C-T?dataset=gnomad_r2_1",
        "id": "10-104375029-C-T",
        "variant": "10:104375029 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-102615272-C-T?dataset=gnomad_r3",
        "id": "10-102615272-C-T",
        "variant": "10:102615272 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-102615272-C-T?dataset=gnomad_r4",
        "id": "10-102615272-C-T",
        "variant": "10:102615272 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 102615272,
          "referenceAllele": "C",
          "start": 102615271
        }
      ],
      "hgvs": [
        "NC_000010.11:g.102615272C>T",
        "CM000672.2:g.102615272C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 104375029,
          "referenceAllele": "C",
          "start": 104375028
        }
      ],
      "hgvs": [
        "NC_000010.10:g.104375029C>T",
        "CM000672.1:g.104375029C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 104365019,
          "referenceAllele": "C",
          "start": 104365018
        }
      ],
      "hgvs": [
        "NC_000010.9:g.104365019C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 116311,
          "referenceAllele": "C",
          "start": 116310
        }
      ],
      "hgvs": [
        "NG_021338.1:g.116311C>T",
        "LRG_521:g.116311C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003579"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1208,
          "referenceAllele": "C",
          "start": 1207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "ENST00000369902.8:c.1027C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358918.4:p.Arg343Cys",
        "hgvsWellDefined": "ENSP00000358918.4:p.Arg343Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750502",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369902.8:c.1027C>T"
          },
          "RefSeq": {
            "hgvs": "NM_016169.4:c.1027C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358918.4:p.Arg343Cys"
          },
          "RefSeq": {
            "hgvs": "NP_057253.2:p.Arg343Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1173,
          "referenceAllele": "C",
          "start": 1172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "ENST00000369899.6:c.1027C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358915.2:p.Arg343Cys",
        "hgvsWellDefined": "ENSP00000358915.2:p.Arg343Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267762"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1193,
          "referenceAllele": "C",
          "start": 1192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "ENST00000369902.7:c.1027C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358918.3:p.Arg343Cys",
        "hgvsWellDefined": "ENSP00000358918.3:p.Arg343Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267763"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1101,
          "referenceAllele": "C",
          "start": 1100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "ENST00000423559.2:c.1027C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411597.2:p.Arg343Cys",
        "hgvsWellDefined": "ENSP00000411597.2:p.Arg343Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287820"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826141295",
      "coordinates": [
        {
          "allele": "T",
          "end": 1218,
          "referenceAllele": "C",
          "start": 1217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "NM_001178133.1:c.1027C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171604.1:p.Arg343Cys",
        "hgvsWellDefined": "NP_001171604.1:p.Arg343Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015890"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645482305",
      "coordinates": [
        {
          "allele": "T",
          "end": 1218,
          "referenceAllele": "C",
          "start": 1217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "NM_016169.3:c.1027C>T",
        "LRG_521t1:c.1027C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_057253.2:p.Arg343Cys",
        "hgvsWellDefined": "NP_057253.2:p.Arg343Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034493"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1221,
          "referenceAllele": "C",
          "start": 1220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_011539858.1:c.1030C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538160.1:p.Arg344Cys",
        "hgvsWellDefined": "XP_011538160.1:p.Arg344Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106808"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1146,
          "referenceAllele": "C",
          "start": 1145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_011539859.1:c.1030C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538161.1:p.Arg344Cys",
        "hgvsWellDefined": "XP_011538161.1:p.Arg344Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106809"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1218,
          "referenceAllele": "C",
          "start": 1217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_011539860.1:c.1027C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538162.1:p.Arg343Cys",
        "hgvsWellDefined": "XP_011538162.1:p.Arg343Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106810"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1057,
          "referenceAllele": "C",
          "start": 1056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_011539861.1:c.1030C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538163.1:p.Arg344Cys",
        "hgvsWellDefined": "XP_011538163.1:p.Arg344Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106811"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1075,
          "referenceAllele": "C",
          "start": 1074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_011539862.1:c.952C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538164.1:p.Arg318Cys",
        "hgvsWellDefined": "XP_011538164.1:p.Arg318Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106812"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 961,
          "referenceAllele": "C",
          "start": 960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_011539863.1:c.856C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538165.1:p.Arg286Cys",
        "hgvsWellDefined": "XP_011538165.1:p.Arg286Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106813"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1058,
          "referenceAllele": "C",
          "start": 1057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_011539864.1:c.1030C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538166.1:p.Arg344Cys",
        "hgvsWellDefined": "XP_011538166.1:p.Arg344Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106814"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1211,
          "referenceAllele": "C",
          "start": 1210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_011539858.3:c.1030C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538160.1:p.Arg344Cys",
        "hgvsWellDefined": "XP_011538160.1:p.Arg344Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553830"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1208,
          "referenceAllele": "C",
          "start": 1207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_011539860.3:c.1027C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538162.1:p.Arg343Cys",
        "hgvsWellDefined": "XP_011538162.1:p.Arg343Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553831"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1211,
          "referenceAllele": "C",
          "start": 1210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_011539861.3:c.1030C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538163.1:p.Arg344Cys",
        "hgvsWellDefined": "XP_011538163.1:p.Arg344Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553832"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1034,
          "referenceAllele": "C",
          "start": 1033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_011539863.3:c.856C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538165.1:p.Arg286Cys",
        "hgvsWellDefined": "XP_011538165.1:p.Arg286Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553833"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1211,
          "referenceAllele": "C",
          "start": 1210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_011539864.3:c.1030C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538166.1:p.Arg344Cys",
        "hgvsWellDefined": "XP_011538166.1:p.Arg344Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553834"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1451,
          "referenceAllele": "C",
          "start": 1450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_017016323.1:c.952C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016871812.1:p.Arg318Cys",
        "hgvsWellDefined": "XP_016871812.1:p.Arg318Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568792"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826141295",
      "coordinates": [
        {
          "allele": "T",
          "end": 1208,
          "referenceAllele": "C",
          "start": 1207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "NM_001178133.2:c.1027C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171604.1:p.Arg343Cys",
        "hgvsWellDefined": "NP_001171604.1:p.Arg343Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678956"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645482305",
      "coordinates": [
        {
          "allele": "T",
          "end": 1208,
          "referenceAllele": "C",
          "start": 1207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "NM_016169.4:c.1027C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_057253.2:p.Arg343Cys",
        "hgvsWellDefined": "NP_057253.2:p.Arg343Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697677",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369902.8:c.1027C>T"
          },
          "RefSeq": {
            "hgvs": "NM_016169.4:c.1027C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358918.4:p.Arg343Cys"
          },
          "RefSeq": {
            "hgvs": "NP_057253.2:p.Arg343Cys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}