{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3971096",
  "communityStandardTitle": [
    "NM_001010892.3(RSPH4A):c.1974A>G (p.Thr658=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=229381[alleleid]",
        "alleleId": 229381,
        "preferredName": "NM_001010892.3(RSPH4A):c.1974A>G (p.Thr658=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/227903",
        "RCV": [
          "RCV000220808",
          "RCV000531490",
          "RCV001157112",
          "RCV003947712"
        ],
        "variationId": 227903
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/6-116953427-A-G",
        "id": "6-116953427-A-G",
        "variant": "6:116953427 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.116953427A>G?assembly=hg19",
        "id": "chr6:g.116953427A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.116632264A>G?assembly=hg38",
        "id": "chr6:g.116632264A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/142977481",
        "rs": 142977481
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-116953427-A-G?dataset=gnomad_r2_1",
        "id": "6-116953427-A-G",
        "variant": "6:116953427 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-116632264-A-G?dataset=gnomad_r3",
        "id": "6-116632264-A-G",
        "variant": "6:116632264 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-116632264-A-G?dataset=gnomad_r4",
        "id": "6-116632264-A-G",
        "variant": "6:116632264 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 116632264,
          "referenceAllele": "A",
          "start": 116632263
        }
      ],
      "hgvs": [
        "NC_000006.12:g.116632264A>G",
        "CM000668.2:g.116632264A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 116953427,
          "referenceAllele": "A",
          "start": 116953426
        }
      ],
      "hgvs": [
        "NC_000006.11:g.116953427A>G",
        "CM000668.1:g.116953427A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 117060120,
          "referenceAllele": "A",
          "start": 117060119
        }
      ],
      "hgvs": [
        "NC_000006.10:g.117060120A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 20786,
          "referenceAllele": "A",
          "start": 20785
        }
      ],
      "hgvs": [
        "NG_012934.1:g.20786A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002631"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2119,
          "referenceAllele": "A",
          "start": 2118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021558",
      "geneNCBI_id": 345895,
      "geneSymbol": "RSPH4A",
      "hgvs": [
        "ENST00000229554.10:c.1974A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000229554.5:p.Thr658="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740800",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000229554.10:c.1974A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001010892.3:c.1974A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000229554.5:p.Thr658="
          },
          "RefSeq": {
            "hgvs": "NP_001010892.1:p.Thr658="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2111,
          "referenceAllele": "A",
          "start": 2110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021558",
      "geneNCBI_id": 345895,
      "geneSymbol": "RSPH4A",
      "hgvs": [
        "ENST00000229554.9:c.1974A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000229554.5:p.Thr658="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248700"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1233,
          "referenceAllele": "A",
          "start": 1232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021558",
      "geneNCBI_id": 345895,
      "geneSymbol": "RSPH4A",
      "hgvs": [
        "ENST00000368580.4:c.1233A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357569.4:p.Thr411="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267043"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1983,
          "referenceAllele": "A",
          "start": 1982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021558",
      "geneNCBI_id": 345895,
      "geneSymbol": "RSPH4A",
      "hgvs": [
        "ENST00000368581.8:c.*35A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357570.4:n.*35A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267044"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825301742",
      "coordinates": [
        {
          "allele": "G",
          "end": 2119,
          "referenceAllele": "A",
          "start": 2118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021558",
      "geneNCBI_id": 345895,
      "geneSymbol": "RSPH4A",
      "hgvs": [
        "NM_001010892.2:c.1974A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001010892.1:p.Thr658="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008174"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1983,
          "referenceAllele": "A",
          "start": 1982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021558",
      "geneNCBI_id": 345895,
      "geneSymbol": "RSPH4A",
      "hgvs": [
        "NM_001161664.1:c.*35A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001155136.1:n.*35A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014289"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4585,
          "referenceAllele": "A",
          "start": 4584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021558",
      "geneNCBI_id": 345895,
      "geneSymbol": "RSPH4A",
      "hgvs": [
        "XM_006715469.2:c.*35A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715532.1:n.*35A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071176"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4625,
          "referenceAllele": "A",
          "start": 4624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021558",
      "geneNCBI_id": 345895,
      "geneSymbol": "RSPH4A",
      "hgvs": [
        "XM_011535791.1:c.1974A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534093.1:p.Thr658="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102793"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4524,
          "referenceAllele": "A",
          "start": 4523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021558",
      "geneNCBI_id": 345895,
      "geneSymbol": "RSPH4A",
      "hgvs": [
        "XM_011535792.1:c.1974A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534094.1:p.Thr658="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102794"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4875,
          "referenceAllele": "A",
          "start": 4874
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021558",
      "geneNCBI_id": 345895,
      "geneSymbol": "RSPH4A",
      "hgvs": [
        "XR_942416.1:n.4875A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136753"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5550,
          "referenceAllele": "A",
          "start": 5549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021558",
      "geneNCBI_id": 345895,
      "geneSymbol": "RSPH4A",
      "hgvs": [
        "XM_017010826.1:c.*35A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866315.1:n.*35A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564798"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825301742",
      "coordinates": [
        {
          "allele": "G",
          "end": 2119,
          "referenceAllele": "A",
          "start": 2118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021558",
      "geneNCBI_id": 345895,
      "geneSymbol": "RSPH4A",
      "hgvs": [
        "NM_001010892.3:c.1974A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001010892.1:p.Thr658="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675377",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000229554.10:c.1974A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001010892.3:c.1974A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000229554.5:p.Thr658="
          },
          "RefSeq": {
            "hgvs": "NP_001010892.1:p.Thr658="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1983,
          "referenceAllele": "A",
          "start": 1982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021558",
      "geneNCBI_id": 345895,
      "geneSymbol": "RSPH4A",
      "hgvs": [
        "NM_001161664.2:c.*35A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001155136.1:n.*35A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713013"
    }
  ],
  "type": "nucleotide"
}