{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4075975",
  "communityStandardTitle": [
    "NM_031924.8(RSPH3):c.170G>A (p.Arg57Gln)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2029194[alleleid]",
        "alleleId": 2029194,
        "preferredName": "NM_031924.8(RSPH3):c.170G>A (p.Arg57Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1970481",
        "RCV": [
          "RCV002735317"
        ],
        "variationId": 1970481
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/6-159414905-C-T",
        "id": "6-159414905-C-T",
        "variant": "6:159414905 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.159414905C>T?assembly=hg19",
        "id": "chr6:g.159414905C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.158993873C>T?assembly=hg38",
        "id": "chr6:g.158993873C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/772715300",
        "rs": 772715300
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-159414905-C-T?dataset=gnomad_r2_1",
        "id": "6-159414905-C-T",
        "variant": "6:159414905 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-158993873-C-T?dataset=gnomad_r3",
        "id": "6-158993873-C-T",
        "variant": "6:158993873 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-158993873-C-T?dataset=gnomad_r4",
        "id": "6-158993873-C-T",
        "variant": "6:158993873 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 158993873,
          "referenceAllele": "C",
          "start": 158993872
        }
      ],
      "hgvs": [
        "NC_000006.12:g.158993873C>T",
        "CM000668.2:g.158993873C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 159414905,
          "referenceAllele": "C",
          "start": 159414904
        }
      ],
      "hgvs": [
        "NC_000006.11:g.159414905C>T",
        "CM000668.1:g.159414905C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 159334893,
          "referenceAllele": "C",
          "start": 159334892
        }
      ],
      "hgvs": [
        "NC_000006.10:g.159334893C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11315,
          "referenceAllele": "G",
          "start": 11314
        }
      ],
      "hgvs": [
        "NG_051819.1:g.11315G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617072"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 822,
          "referenceAllele": "G",
          "start": 821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021054",
      "geneNCBI_id": 83861,
      "geneSymbol": "RSPH3",
      "hgvs": [
        "ENST00000367069.7:c.170G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356036.1:p.Arg57Gln",
        "hgvsWellDefined": "ENSP00000356036.1:p.Arg57Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749922",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367069.7:c.170G>A"
          },
          "RefSeq": {
            "hgvs": "NM_031924.8:c.170G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356036.1:p.Arg57Gln"
          },
          "RefSeq": {
            "hgvs": "NP_114130.4:p.Arg57Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 786,
          "referenceAllele": "G",
          "start": 785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021054",
      "geneNCBI_id": 83861,
      "geneSymbol": "RSPH3",
      "hgvs": [
        "ENST00000252655.1:c.596G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000252655.1:p.Arg199Gln",
        "hgvsWellDefined": "ENSP00000252655.1:p.Arg199Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249842"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 807,
          "referenceAllele": "G",
          "start": 806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021054",
      "geneNCBI_id": 83861,
      "geneSymbol": "RSPH3",
      "hgvs": [
        "ENST00000367069.6:c.170G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356036.1:p.Arg57Gln",
        "hgvsWellDefined": "ENSP00000356036.1:p.Arg57Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266182"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 401,
          "referenceAllele": "G",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021054",
      "geneNCBI_id": 83861,
      "geneSymbol": "RSPH3",
      "hgvs": [
        "ENST00000449822.5:c.170G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393195.1:p.Arg57Gln",
        "hgvsWellDefined": "ENSP00000393195.1:p.Arg57Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300407"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 786,
          "referenceAllele": "G",
          "start": 785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021054",
      "geneNCBI_id": 83861,
      "geneSymbol": "RSPH3",
      "hgvs": [
        "NM_031924.4:c.596G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_114130.3:p.Arg199Gln",
        "hgvsWellDefined": "NP_114130.3:p.Arg199Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038742"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1052,
          "referenceAllele": "G",
          "start": 1051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021054",
      "geneNCBI_id": 83861,
      "geneSymbol": "RSPH3",
      "hgvs": [
        "XM_005267153.3:c.596G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267210.1:p.Arg199Gln",
        "hgvsWellDefined": "XP_005267210.1:p.Arg199Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065309"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1052,
          "referenceAllele": "G",
          "start": 1051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021054",
      "geneNCBI_id": 83861,
      "geneSymbol": "RSPH3",
      "hgvs": [
        "XR_245553.2:n.1052G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116990"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827371173",
      "coordinates": [
        {
          "allele": "A",
          "end": 807,
          "referenceAllele": "G",
          "start": 806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021054",
      "geneNCBI_id": 83861,
      "geneSymbol": "RSPH3",
      "hgvs": [
        "NM_001346418.1:c.596G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333347.1:p.Arg199Gln",
        "hgvsWellDefined": "NP_001333347.1:p.Arg199Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517539"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 807,
          "referenceAllele": "G",
          "start": 806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021054",
      "geneNCBI_id": 83861,
      "geneSymbol": "RSPH3",
      "hgvs": [
        "NM_031924.5:c.596G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_114130.3:p.Arg199Gln",
        "hgvsWellDefined": "NP_114130.3:p.Arg199Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526287"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 807,
          "referenceAllele": "G",
          "start": 806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021054",
      "geneNCBI_id": 83861,
      "geneSymbol": "RSPH3",
      "hgvs": [
        "NR_144434.1:n.807G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS529407"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 394,
          "referenceAllele": "G",
          "start": 393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021054",
      "geneNCBI_id": 83861,
      "geneSymbol": "RSPH3",
      "hgvs": [
        "XM_017011347.2:c.-79G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866836.1:n.-79G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565216"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 375,
          "endIntronDirection": "+",
          "endIntronOffset": 5562,
          "referenceAllele": "G",
          "start": 375,
          "startIntronDirection": "+",
          "startIntronOffset": 5561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021054",
      "geneNCBI_id": 83861,
      "geneSymbol": "RSPH3",
      "hgvs": [
        "XM_024446566.1:c.-187+5562G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302334.1:n.-187+5562G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580225"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1046,
          "referenceAllele": "G",
          "start": 1045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021054",
      "geneNCBI_id": 83861,
      "geneSymbol": "RSPH3",
      "hgvs": [
        "XR_001743668.2:n.1046G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS592748"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1046,
          "referenceAllele": "G",
          "start": 1045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021054",
      "geneNCBI_id": 83861,
      "geneSymbol": "RSPH3",
      "hgvs": [
        "XR_001743669.2:n.1046G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS592749"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1046,
          "referenceAllele": "G",
          "start": 1045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021054",
      "geneNCBI_id": 83861,
      "geneSymbol": "RSPH3",
      "hgvs": [
        "XR_001743670.2:n.1046G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS592750"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 394,
          "referenceAllele": "G",
          "start": 393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021054",
      "geneNCBI_id": 83861,
      "geneSymbol": "RSPH3",
      "hgvs": [
        "XR_001743671.2:n.394G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS592751"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 822,
          "referenceAllele": "G",
          "start": 821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021054",
      "geneNCBI_id": 83861,
      "geneSymbol": "RSPH3",
      "hgvs": [
        "NM_031924.6:c.596G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_114130.3:p.Arg199Gln",
        "hgvsWellDefined": "NP_114130.3:p.Arg199Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698987"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580467247",
      "coordinates": [
        {
          "allele": "A",
          "end": 822,
          "referenceAllele": "G",
          "start": 821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021054",
      "geneNCBI_id": 83861,
      "geneSymbol": "RSPH3",
      "hgvs": [
        "NM_031924.8:c.170G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_114130.4:p.Arg57Gln",
        "hgvsWellDefined": "NP_114130.4:p.Arg57Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728784",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367069.7:c.170G>A"
          },
          "RefSeq": {
            "hgvs": "NM_031924.8:c.170G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356036.1:p.Arg57Gln"
          },
          "RefSeq": {
            "hgvs": "NP_114130.4:p.Arg57Gln"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}