{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA055593",
  "communityStandardTitle": [
    "NM_000540.3(RYR1):c.11034+15G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=507303[alleleid]",
        "alleleId": 507303,
        "preferredName": "NM_000540.3(RYR1):c.11034+15G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/513560",
        "RCV": [
          "RCV000611618",
          "RCV001135774",
          "RCV001135776",
          "RCV001135775",
          "RCV002064178"
        ],
        "variationId": 513560
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/19-39019350-G-A",
        "id": "19-39019350-G-A",
        "variant": "19:39019350 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.39019350G>A?assembly=hg19",
        "id": "chr19:g.39019350G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.38528710G>A?assembly=hg38",
        "id": "chr19:g.38528710G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/552725260",
        "rs": 552725260
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-39019350-G-A?dataset=gnomad_r2_1",
        "id": "19-39019350-G-A",
        "variant": "19:39019350 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-38528710-G-A?dataset=gnomad_r3",
        "id": "19-38528710-G-A",
        "variant": "19:38528710 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-38528710-G-A?dataset=gnomad_r4",
        "id": "19-38528710-G-A",
        "variant": "19:38528710 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 38528710,
          "referenceAllele": "G",
          "start": 38528709
        }
      ],
      "hgvs": [
        "NC_000019.10:g.38528710G>A",
        "CM000681.2:g.38528710G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 39019350,
          "referenceAllele": "G",
          "start": 39019349
        }
      ],
      "hgvs": [
        "NC_000019.9:g.39019350G>A",
        "CM000681.1:g.39019350G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 43711190,
          "referenceAllele": "G",
          "start": 43711189
        }
      ],
      "hgvs": [
        "NC_000019.8:g.43711190G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 100011,
          "referenceAllele": "G",
          "start": 100010
        }
      ],
      "hgvs": [
        "NG_008866.1:g.100011G>A",
        "LRG_766:g.100011G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001261"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10973,
          "endIntronDirection": "+",
          "endIntronOffset": 15,
          "referenceAllele": "G",
          "start": 10973,
          "startIntronDirection": "+",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000599547.6:c.10973+15G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000471601.2:n.10973+15G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826332"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11173,
          "endIntronDirection": "+",
          "endIntronOffset": 15,
          "referenceAllele": "G",
          "start": 11173,
          "startIntronDirection": "+",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000359596.8:c.11034+15G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352608.2:n.11034+15G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749219",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000359596.8:c.11034+15G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000540.3:c.11034+15G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000352608.2:n.11034+15G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000531.2:n.11034+15G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11150,
          "endIntronDirection": "+",
          "endIntronOffset": 15,
          "referenceAllele": "G",
          "start": 11150,
          "startIntronDirection": "+",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000355481.8:c.11019+15G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347667.3:n.11019+15G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247177"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11034,
          "endIntronDirection": "+",
          "endIntronOffset": 15,
          "referenceAllele": "G",
          "start": 11034,
          "startIntronDirection": "+",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000359596.7:c.11034+15G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352608.2:n.11034+15G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246733"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11123,
          "endIntronDirection": "+",
          "endIntronOffset": 15,
          "referenceAllele": "G",
          "start": 11123,
          "startIntronDirection": "+",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000360985.7:c.11016+15G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354254.4:n.11016+15G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247225"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4421,
          "endIntronDirection": "+",
          "endIntronOffset": 15,
          "referenceAllele": "G",
          "start": 4421,
          "startIntronDirection": "+",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000594335.5:c.4421+15G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS394607"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1841,
          "endIntronDirection": "+",
          "endIntronOffset": 15,
          "referenceAllele": "G",
          "start": 1841,
          "startIntronDirection": "+",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000599547.5:c.1841+15G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS247243"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 315,
          "endIntronDirection": "+",
          "endIntronOffset": 15,
          "referenceAllele": "G",
          "start": 315,
          "startIntronDirection": "+",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000601514.5:c.315+15G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000472497.1:n.315+15G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247273"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11164,
          "endIntronDirection": "+",
          "endIntronOffset": 15,
          "referenceAllele": "G",
          "start": 11164,
          "startIntronDirection": "+",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "NM_000540.2:c.11034+15G>A",
        "LRG_766t1:c.11034+15G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000531.2:n.11034+15G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006598"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11149,
          "endIntronDirection": "+",
          "endIntronOffset": 15,
          "referenceAllele": "G",
          "start": 11149,
          "startIntronDirection": "+",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "NM_001042723.1:c.11019+15G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001036188.1:n.11019+15G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009808"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11098,
          "endIntronDirection": "+",
          "endIntronOffset": 15,
          "referenceAllele": "G",
          "start": 11098,
          "startIntronDirection": "+",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_006723317.1:c.11034+15G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723380.1:n.11034+15G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074994"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11083,
          "endIntronDirection": "+",
          "endIntronOffset": 15,
          "referenceAllele": "G",
          "start": 11083,
          "startIntronDirection": "+",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_006723319.1:c.11019+15G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723382.1:n.11019+15G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074995"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11095,
          "endIntronDirection": "+",
          "endIntronOffset": 15,
          "referenceAllele": "G",
          "start": 11095,
          "startIntronDirection": "+",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_011527204.1:c.11031+15G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525506.1:n.11031+15G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094298"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11098,
          "endIntronDirection": "+",
          "endIntronOffset": 15,
          "referenceAllele": "G",
          "start": 11098,
          "startIntronDirection": "+",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_011527205.1:c.11034+15G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525507.1:n.11034+15G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094299"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11114,
          "endIntronDirection": "+",
          "endIntronOffset": 15,
          "referenceAllele": "G",
          "start": 11114,
          "startIntronDirection": "+",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_006723317.2:c.11034+15G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723380.1:n.11034+15G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540735"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11099,
          "endIntronDirection": "+",
          "endIntronOffset": 15,
          "referenceAllele": "G",
          "start": 11099,
          "startIntronDirection": "+",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_006723319.2:c.11019+15G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723382.1:n.11019+15G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540736"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11114,
          "endIntronDirection": "+",
          "endIntronOffset": 15,
          "referenceAllele": "G",
          "start": 11114,
          "startIntronDirection": "+",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_011527205.2:c.11034+15G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525507.1:n.11034+15G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548573"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11173,
          "endIntronDirection": "+",
          "endIntronOffset": 15,
          "referenceAllele": "G",
          "start": 11173,
          "startIntronDirection": "+",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "NM_000540.3:c.11034+15G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000531.2:n.11034+15G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674884",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000359596.8:c.11034+15G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000540.3:c.11034+15G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000352608.2:n.11034+15G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000531.2:n.11034+15G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11158,
          "endIntronDirection": "+",
          "endIntronOffset": 15,
          "referenceAllele": "G",
          "start": 11158,
          "startIntronDirection": "+",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "NM_001042723.2:c.11019+15G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001036188.1:n.11019+15G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676082"
    }
  ],
  "type": "nucleotide"
}