{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2335094951",
  "communityStandardTitle": [
    "NM_000540.3(RYR1):c.14696G= (p.Gly4899=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/118192183",
        "rs": 118192183
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 38584992,
          "referenceAllele": "G",
          "start": 38584991
        }
      ],
      "hgvs": [
        "NC_000019.10:g.38584992G=",
        "CM000681.2:g.38584992G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 39075632,
          "referenceAllele": "G",
          "start": 39075631
        }
      ],
      "hgvs": [
        "NC_000019.9:g.39075632G=",
        "CM000681.1:g.39075632G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 43767472,
          "referenceAllele": "G",
          "start": 43767471
        }
      ],
      "hgvs": [
        "NC_000019.8:g.43767472G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 156293,
          "referenceAllele": "G",
          "start": 156292
        }
      ],
      "hgvs": [
        "NG_008866.1:g.156293G=",
        "LRG_766:g.156293G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001261"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1632,
          "referenceAllele": "G",
          "start": 1631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000593677.2:c.1632G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826297"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3029,
          "referenceAllele": "G",
          "start": 3028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000688602.1:c.3029G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831718"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3001,
          "referenceAllele": "G",
          "start": 3000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000689936.1:c.3001G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832452"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 89,
          "referenceAllele": "G",
          "start": 88
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000692547.1:n.89G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833770"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14835,
          "referenceAllele": "G",
          "start": 14834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000359596.8:c.14696G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352608.2:p.Gly4899="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749219",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000359596.8:c.14696G="
          },
          "RefSeq": {
            "hgvs": "NM_000540.3:c.14696G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000352608.2:p.Gly4899="
          },
          "RefSeq": {
            "hgvs": "NP_000531.2:p.Gly4899="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14812,
          "referenceAllele": "G",
          "start": 14811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000355481.8:c.14681G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347667.3:p.Gly4894="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247177"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14696,
          "referenceAllele": "G",
          "start": 14695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000359596.7:c.14696G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352608.2:p.Gly4899="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246733"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14785,
          "referenceAllele": "G",
          "start": 14784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000360985.7:c.14678G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354254.4:p.Gly4893="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247225"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825205104",
      "coordinates": [
        {
          "allele": "G",
          "end": 14826,
          "referenceAllele": "G",
          "start": 14825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "NM_000540.2:c.14696G=",
        "LRG_766t1:c.14696G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000531.2:p.Gly4899="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006598"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825423068",
      "coordinates": [
        {
          "allele": "G",
          "end": 14811,
          "referenceAllele": "G",
          "start": 14810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "NM_001042723.1:c.14681G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001036188.1:p.Gly4894="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009808"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14742,
          "referenceAllele": "G",
          "start": 14741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_006723317.1:c.14678G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006723380.1:p.Gly4893="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074994"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14727,
          "referenceAllele": "G",
          "start": 14726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_006723319.1:c.14663G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006723382.1:p.Gly4888="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074995"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14757,
          "referenceAllele": "G",
          "start": 14756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_011527204.1:c.14693G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011525506.1:p.Gly4898="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094298"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14673,
          "referenceAllele": "G",
          "start": 14672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_011527205.1:c.14609G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011525507.1:p.Gly4870="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094299"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14758,
          "referenceAllele": "G",
          "start": 14757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_006723317.2:c.14678G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006723380.1:p.Gly4893="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540735"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14743,
          "referenceAllele": "G",
          "start": 14742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_006723319.2:c.14663G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006723382.1:p.Gly4888="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540736"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14689,
          "referenceAllele": "G",
          "start": 14688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_011527205.2:c.14609G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011525507.1:p.Gly4870="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548573"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825205104",
      "coordinates": [
        {
          "allele": "G",
          "end": 14835,
          "referenceAllele": "G",
          "start": 14834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "NM_000540.3:c.14696G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000531.2:p.Gly4899="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674884",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000359596.8:c.14696G="
          },
          "RefSeq": {
            "hgvs": "NM_000540.3:c.14696G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000352608.2:p.Gly4899="
          },
          "RefSeq": {
            "hgvs": "NP_000531.2:p.Gly4899="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825423068",
      "coordinates": [
        {
          "allele": "G",
          "end": 14820,
          "referenceAllele": "G",
          "start": 14819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "NM_001042723.2:c.14681G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001036188.1:p.Gly4894="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676082"
    }
  ],
  "type": "nucleotide"
}