{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA024031",
  "communityStandardTitle": [
    "NM_000540.3(RYR1):c.13044G>A (p.Ala4348=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=196374[alleleid]",
        "alleleId": 196374,
        "preferredName": "NM_000540.3(RYR1):c.13044G>A (p.Ala4348=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/199215",
        "RCV": [
          "RCV000180735",
          "RCV000543194",
          "RCV002503701"
        ],
        "variationId": 199215
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.39056018G>A?assembly=hg19",
        "id": "chr19:g.39056018G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.38565378G>A?assembly=hg38",
        "id": "chr19:g.38565378G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/794727985",
        "rs": 794727985
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-39056018-G-A?dataset=gnomad_r2_1",
        "id": "19-39056018-G-A",
        "variant": "19:39056018 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-38565378-G-A?dataset=gnomad_r3",
        "id": "19-38565378-G-A",
        "variant": "19:38565378 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-38565378-G-A?dataset=gnomad_r4",
        "id": "19-38565378-G-A",
        "variant": "19:38565378 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 38565378,
          "referenceAllele": "G",
          "start": 38565377
        }
      ],
      "hgvs": [
        "NC_000019.10:g.38565378G>A",
        "CM000681.2:g.38565378G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 39056018,
          "referenceAllele": "G",
          "start": 39056017
        }
      ],
      "hgvs": [
        "NC_000019.9:g.39056018G>A",
        "CM000681.1:g.39056018G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 43747858,
          "referenceAllele": "G",
          "start": 43747857
        }
      ],
      "hgvs": [
        "NC_000019.8:g.43747858G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 136679,
          "referenceAllele": "G",
          "start": 136678
        }
      ],
      "hgvs": [
        "NG_008866.1:g.136679G>A",
        "LRG_766:g.136679G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001261"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1454,
          "referenceAllele": "G",
          "start": 1453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000688602.1:c.1454G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831718"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1436,
          "referenceAllele": "G",
          "start": 1435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000689936.1:c.1436G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832452"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13183,
          "referenceAllele": "G",
          "start": 13182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000359596.8:c.13044G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352608.2:p.Ala4348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749219",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000359596.8:c.13044G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000540.3:c.13044G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000352608.2:p.Ala4348="
          },
          "RefSeq": {
            "hgvs": "NP_000531.2:p.Ala4348="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13160,
          "referenceAllele": "G",
          "start": 13159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000355481.8:c.13029G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347667.3:p.Ala4343="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247177"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13044,
          "referenceAllele": "G",
          "start": 13043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000359596.7:c.13044G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352608.2:p.Ala4348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246733"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13133,
          "referenceAllele": "G",
          "start": 13132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000360985.7:c.13026G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354254.4:p.Ala4342="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247225"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825204205",
      "coordinates": [
        {
          "allele": "A",
          "end": 13174,
          "referenceAllele": "G",
          "start": 13173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "NM_000540.2:c.13044G>A",
        "LRG_766t1:c.13044G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000531.2:p.Ala4348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006598"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825422301",
      "coordinates": [
        {
          "allele": "A",
          "end": 13159,
          "referenceAllele": "G",
          "start": 13158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "NM_001042723.1:c.13029G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001036188.1:p.Ala4343="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009808"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13090,
          "referenceAllele": "G",
          "start": 13089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_006723317.1:c.13026G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723380.1:p.Ala4342="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074994"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13075,
          "referenceAllele": "G",
          "start": 13074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_006723319.1:c.13011G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723382.1:p.Ala4337="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074995"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13105,
          "referenceAllele": "G",
          "start": 13104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_011527204.1:c.13041G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525506.1:p.Ala4347="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094298"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13108,
          "referenceAllele": "G",
          "start": 13107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_011527205.1:c.13044G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525507.1:p.Ala4348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094299"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13106,
          "referenceAllele": "G",
          "start": 13105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_006723317.2:c.13026G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723380.1:p.Ala4342="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540735"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13091,
          "referenceAllele": "G",
          "start": 13090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_006723319.2:c.13011G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723382.1:p.Ala4337="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540736"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13124,
          "referenceAllele": "G",
          "start": 13123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_011527205.2:c.13044G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525507.1:p.Ala4348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548573"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825204205",
      "coordinates": [
        {
          "allele": "A",
          "end": 13183,
          "referenceAllele": "G",
          "start": 13182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "NM_000540.3:c.13044G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000531.2:p.Ala4348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674884",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000359596.8:c.13044G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000540.3:c.13044G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000352608.2:p.Ala4348="
          },
          "RefSeq": {
            "hgvs": "NP_000531.2:p.Ala4348="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825422301",
      "coordinates": [
        {
          "allele": "A",
          "end": 13168,
          "referenceAllele": "G",
          "start": 13167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "NM_001042723.2:c.13029G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001036188.1:p.Ala4343="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676082"
    }
  ],
  "type": "nucleotide"
}