{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA452982312",
  "communityStandardTitle": [
    "NM_031924.8(RSPH3):c.1242G>A (p.Glu414=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1624958[alleleid]",
        "alleleId": 1624958,
        "preferredName": "NM_031924.8(RSPH3):c.1242G>A (p.Glu414=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1571634",
        "RCV": [
          "RCV002219166"
        ],
        "variationId": 1571634
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.159398585C>T?assembly=hg19",
        "id": "chr6:g.159398585C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2128605089",
        "rs": 2128605089
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 158977553,
          "referenceAllele": "C",
          "start": 158977552
        }
      ],
      "hgvs": [
        "NC_000006.12:g.158977553C>T",
        "CM000668.2:g.158977553C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 159398585,
          "referenceAllele": "C",
          "start": 159398584
        }
      ],
      "hgvs": [
        "NC_000006.11:g.159398585C>T",
        "CM000668.1:g.159398585C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 159318573,
          "referenceAllele": "C",
          "start": 159318572
        }
      ],
      "hgvs": [
        "NC_000006.10:g.159318573C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 27635,
          "referenceAllele": "G",
          "start": 27634
        }
      ],
      "hgvs": [
        "NG_051819.1:g.27635G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617072"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1894,
          "referenceAllele": "G",
          "start": 1893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021054",
      "geneNCBI_id": 83861,
      "geneSymbol": "RSPH3",
      "hgvs": [
        "ENST00000367069.7:c.1242G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356036.1:p.Glu414="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749922",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367069.7:c.1242G>A"
          },
          "RefSeq": {
            "hgvs": "NM_031924.8:c.1242G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356036.1:p.Glu414="
          },
          "RefSeq": {
            "hgvs": "NP_114130.4:p.Glu414="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1858,
          "referenceAllele": "G",
          "start": 1857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021054",
      "geneNCBI_id": 83861,
      "geneSymbol": "RSPH3",
      "hgvs": [
        "ENST00000252655.1:c.1668G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000252655.1:p.Glu556="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249842"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1879,
          "referenceAllele": "G",
          "start": 1878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021054",
      "geneNCBI_id": 83861,
      "geneSymbol": "RSPH3",
      "hgvs": [
        "ENST00000367069.6:c.1242G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356036.1:p.Glu414="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266182"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1185,
          "referenceAllele": "G",
          "start": 1184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021054",
      "geneNCBI_id": 83861,
      "geneSymbol": "RSPH3",
      "hgvs": [
        "ENST00000449822.5:c.954G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393195.1:p.Glu318="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300407"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1858,
          "referenceAllele": "G",
          "start": 1857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021054",
      "geneNCBI_id": 83861,
      "geneSymbol": "RSPH3",
      "hgvs": [
        "NM_031924.4:c.1668G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_114130.3:p.Glu556="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038742"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1836,
          "referenceAllele": "G",
          "start": 1835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021054",
      "geneNCBI_id": 83861,
      "geneSymbol": "RSPH3",
      "hgvs": [
        "XM_005267153.3:c.1380G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267210.1:p.Glu460="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065309"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2124,
          "referenceAllele": "G",
          "start": 2123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021054",
      "geneNCBI_id": 83861,
      "geneSymbol": "RSPH3",
      "hgvs": [
        "XR_245553.2:n.2124G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116990"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827371211",
      "coordinates": [
        {
          "allele": "A",
          "end": 1591,
          "referenceAllele": "G",
          "start": 1590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021054",
      "geneNCBI_id": 83861,
      "geneSymbol": "RSPH3",
      "hgvs": [
        "NM_001346418.1:c.1380G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333347.1:p.Glu460="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517539"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1879,
          "referenceAllele": "G",
          "start": 1878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021054",
      "geneNCBI_id": 83861,
      "geneSymbol": "RSPH3",
      "hgvs": [
        "NM_031924.5:c.1668G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_114130.3:p.Glu556="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526287"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1879,
          "referenceAllele": "G",
          "start": 1878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021054",
      "geneNCBI_id": 83861,
      "geneSymbol": "RSPH3",
      "hgvs": [
        "NR_144434.1:n.1879G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS529407"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1324,
          "referenceAllele": "G",
          "start": 1323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021054",
      "geneNCBI_id": 83861,
      "geneSymbol": "RSPH3",
      "hgvs": [
        "XM_017011347.2:c.852G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866836.1:p.Glu284="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565216"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1413,
          "referenceAllele": "G",
          "start": 1412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021054",
      "geneNCBI_id": 83861,
      "geneSymbol": "RSPH3",
      "hgvs": [
        "XM_024446566.1:c.852G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302334.1:p.Glu284="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580225"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2118,
          "referenceAllele": "G",
          "start": 2117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021054",
      "geneNCBI_id": 83861,
      "geneSymbol": "RSPH3",
      "hgvs": [
        "XR_001743668.2:n.2118G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS592748"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2118,
          "referenceAllele": "G",
          "start": 2117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021054",
      "geneNCBI_id": 83861,
      "geneSymbol": "RSPH3",
      "hgvs": [
        "XR_001743669.2:n.2118G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS592749"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1830,
          "referenceAllele": "G",
          "start": 1829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021054",
      "geneNCBI_id": 83861,
      "geneSymbol": "RSPH3",
      "hgvs": [
        "XR_001743670.2:n.1830G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS592750"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1324,
          "referenceAllele": "G",
          "start": 1323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021054",
      "geneNCBI_id": 83861,
      "geneSymbol": "RSPH3",
      "hgvs": [
        "XR_001743671.2:n.1324G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS592751"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1894,
          "referenceAllele": "G",
          "start": 1893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021054",
      "geneNCBI_id": 83861,
      "geneSymbol": "RSPH3",
      "hgvs": [
        "NM_031924.6:c.1668G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_114130.3:p.Glu556="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698987"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830069986",
      "coordinates": [
        {
          "allele": "A",
          "end": 1894,
          "referenceAllele": "G",
          "start": 1893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021054",
      "geneNCBI_id": 83861,
      "geneSymbol": "RSPH3",
      "hgvs": [
        "NM_031924.8:c.1242G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_114130.4:p.Glu414="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728784",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367069.7:c.1242G>A"
          },
          "RefSeq": {
            "hgvs": "NM_031924.8:c.1242G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356036.1:p.Glu414="
          },
          "RefSeq": {
            "hgvs": "NP_114130.4:p.Glu414="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}