{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3828430",
  "communityStandardTitle": [
    "NM_152732.5(RSPH9):c.819C>T (p.Pro273=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3352128",
        "active": true,
        "id": "COSM3352128"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3352129",
        "active": true,
        "id": "COSM3352129"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=307640[alleleid]",
        "alleleId": 307640,
        "preferredName": "NM_152732.5(RSPH9):c.819C>T (p.Pro273=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/357020",
        "RCV": [
          "RCV000265038",
          "RCV001095134"
        ],
        "variationId": 357020
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/6-43638674-C-T",
        "id": "6-43638674-C-T",
        "variant": "6:43638674 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.43638674C>T?assembly=hg19",
        "id": "chr6:g.43638674C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.43670937C>T?assembly=hg38",
        "id": "chr6:g.43670937C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/79412180",
        "rs": 79412180
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-43638674-C-T?dataset=gnomad_r2_1",
        "id": "6-43638674-C-T",
        "variant": "6:43638674 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-43670937-C-T?dataset=gnomad_r3",
        "id": "6-43670937-C-T",
        "variant": "6:43670937 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-43670937-C-T?dataset=gnomad_r4",
        "id": "6-43670937-C-T",
        "variant": "6:43670937 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 43670937,
          "referenceAllele": "C",
          "start": 43670936
        }
      ],
      "hgvs": [
        "NC_000006.12:g.43670937C>T",
        "CM000668.2:g.43670937C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 43638674,
          "referenceAllele": "C",
          "start": 43638673
        }
      ],
      "hgvs": [
        "NC_000006.11:g.43638674C>T",
        "CM000668.1:g.43638674C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 43746652,
          "referenceAllele": "C",
          "start": 43746651
        }
      ],
      "hgvs": [
        "NC_000006.10:g.43746652C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 30908,
          "referenceAllele": "C",
          "start": 30907
        }
      ],
      "hgvs": [
        "NG_023436.1:g.30908C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003866"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 882,
          "referenceAllele": "C",
          "start": 881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021057",
      "geneNCBI_id": 221421,
      "geneSymbol": "RSPH9",
      "hgvs": [
        "ENST00000372163.5:c.819C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361236.4:p.Pro273="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750950",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000372163.5:c.819C>T"
          },
          "RefSeq": {
            "hgvs": "NM_152732.5:c.819C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361236.4:p.Pro273="
          },
          "RefSeq": {
            "hgvs": "NP_689945.2:p.Pro273="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 872,
          "referenceAllele": "C",
          "start": 871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021057",
      "geneNCBI_id": 221421,
      "geneSymbol": "RSPH9",
      "hgvs": [
        "ENST00000372163.4:c.819C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361236.4:p.Pro273="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268949"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 924,
          "referenceAllele": "C",
          "start": 923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021057",
      "geneNCBI_id": 221421,
      "geneSymbol": "RSPH9",
      "hgvs": [
        "ENST00000372165.8:c.871C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361238.4:p.Leu291Phe",
        "hgvsWellDefined": "ENSP00000361238.4:p.Leu291Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268951"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826179275",
      "coordinates": [
        {
          "allele": "T",
          "end": 940,
          "referenceAllele": "C",
          "start": 939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021057",
      "geneNCBI_id": 221421,
      "geneSymbol": "RSPH9",
      "hgvs": [
        "NM_001193341.1:c.871C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180270.1:p.Leu291Phe",
        "hgvsWellDefined": "NP_001180270.1:p.Leu291Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016361"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830288772",
      "coordinates": [
        {
          "allele": "T",
          "end": 888,
          "referenceAllele": "C",
          "start": 887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021057",
      "geneNCBI_id": 221421,
      "geneSymbol": "RSPH9",
      "hgvs": [
        "NM_152732.4:c.819C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_689945.2:p.Pro273="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042107"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 958,
          "referenceAllele": "C",
          "start": 957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021057",
      "geneNCBI_id": 221421,
      "geneSymbol": "RSPH9",
      "hgvs": [
        "XM_005248901.2:c.916C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248958.1:p.Leu306Phe",
        "hgvsWellDefined": "XP_005248958.1:p.Leu306Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058641"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 958,
          "referenceAllele": "C",
          "start": 957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021057",
      "geneNCBI_id": 221421,
      "geneSymbol": "RSPH9",
      "hgvs": [
        "XM_005248901.3:c.916C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248958.1:p.Leu306Phe",
        "hgvsWellDefined": "XP_005248958.1:p.Leu306Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533187"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 909,
          "referenceAllele": "C",
          "start": 908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021057",
      "geneNCBI_id": 221421,
      "geneSymbol": "RSPH9",
      "hgvs": [
        "XR_002956268.1:n.909C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602430"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 819,
          "referenceAllele": "C",
          "start": 818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021057",
      "geneNCBI_id": 221421,
      "geneSymbol": "RSPH9",
      "hgvs": [
        "XR_002956269.1:n.819C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602431"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830288772",
      "coordinates": [
        {
          "allele": "T",
          "end": 882,
          "referenceAllele": "C",
          "start": 881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021057",
      "geneNCBI_id": 221421,
      "geneSymbol": "RSPH9",
      "hgvs": [
        "NM_152732.5:c.819C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_689945.2:p.Pro273="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672436",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000372163.5:c.819C>T"
          },
          "RefSeq": {
            "hgvs": "NM_152732.5:c.819C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361236.4:p.Pro273="
          },
          "RefSeq": {
            "hgvs": "NP_689945.2:p.Pro273="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826179275",
      "coordinates": [
        {
          "allele": "T",
          "end": 934,
          "referenceAllele": "C",
          "start": 933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021057",
      "geneNCBI_id": 221421,
      "geneSymbol": "RSPH9",
      "hgvs": [
        "NM_001193341.2:c.871C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180270.1:p.Leu291Phe",
        "hgvsWellDefined": "NP_001180270.1:p.Leu291Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713729"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 966,
          "endIntronDirection": "+",
          "endIntronOffset": 141666,
          "referenceAllele": "C",
          "start": 966,
          "startIntronDirection": "+",
          "startIntronOffset": 141665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020194",
      "geneNCBI_id": 9533,
      "geneSymbol": "POLR1C",
      "hgvs": [
        "NM_001318876.2:c.945+141666C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305805.1:n.945+141666C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717620"
    }
  ],
  "type": "nucleotide"
}