{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA952524",
  "communityStandardTitle": [
    "NM_000969.5(RPL5):c.587G>A (p.Arg196Gln)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6237551",
        "active": true,
        "id": "COSM6237551"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1456529[alleleid]",
        "alleleId": 1456529,
        "preferredName": "NM_000969.5(RPL5):c.587G>A (p.Arg196Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1346567",
        "RCV": [
          "RCV002041441",
          "RCV002503350"
        ],
        "variationId": 1346567
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-93303072-G-A",
        "id": "1-93303072-G-A",
        "variant": "1:93303072 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.93303072G>A?assembly=hg19",
        "id": "chr1:g.93303072G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.92837515G>A?assembly=hg38",
        "id": "chr1:g.92837515G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/771013653",
        "rs": 771013653
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-93303072-G-A?dataset=gnomad_r2_1",
        "id": "1-93303072-G-A",
        "variant": "1:93303072 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-92837515-G-A?dataset=gnomad_r3",
        "id": "1-92837515-G-A",
        "variant": "1:92837515 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-92837515-G-A?dataset=gnomad_r4",
        "id": "1-92837515-G-A",
        "variant": "1:92837515 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 92837515,
          "referenceAllele": "G",
          "start": 92837514
        }
      ],
      "hgvs": [
        "NC_000001.11:g.92837515G>A",
        "CM000663.2:g.92837515G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 93303072,
          "referenceAllele": "G",
          "start": 93303071
        }
      ],
      "hgvs": [
        "NC_000001.10:g.93303072G>A",
        "CM000663.1:g.93303072G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 93075660,
          "referenceAllele": "G",
          "start": 93075659
        }
      ],
      "hgvs": [
        "NC_000001.9:g.93075660G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10479,
          "referenceAllele": "G",
          "start": 10478
        }
      ],
      "hgvs": [
        "NG_011779.1:g.10479G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001963"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 129008,
          "referenceAllele": "C",
          "start": 129007
        }
      ],
      "hgvs": [
        "NG_033051.1:g.129008C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005383"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10530,
          "referenceAllele": "G",
          "start": 10529
        }
      ],
      "hgvs": [
        "NG_011779.2:g.10530G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616152"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 662,
          "referenceAllele": "G",
          "start": 661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010360",
      "geneNCBI_id": 6125,
      "geneSymbol": "RPL5",
      "hgvs": [
        "ENST00000370321.8:c.587G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359345.2:p.Arg196Gln",
        "hgvsWellDefined": "ENSP00000359345.2:p.Arg196Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750583",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370321.8:c.587G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000969.5:c.587G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359345.2:p.Arg196Gln"
          },
          "RefSeq": {
            "hgvs": "NP_000960.2:p.Arg196Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 382,
          "endIntronDirection": "+",
          "endIntronOffset": 2602,
          "referenceAllele": "G",
          "start": 382,
          "startIntronDirection": "+",
          "startIntronOffset": 2601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010360",
      "geneNCBI_id": 6125,
      "geneSymbol": "RPL5",
      "hgvs": [
        "ENST00000645119.1:c.324+2602G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493811.1:n.324+2602G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768182"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 619,
          "referenceAllele": "G",
          "start": 618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010360",
      "geneNCBI_id": 6125,
      "geneSymbol": "RPL5",
      "hgvs": [
        "ENST00000645300.1:c.437G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495589.1:p.Arg146Gln",
        "hgvsWellDefined": "ENSP00000495589.1:p.Arg146Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768277"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 321,
          "referenceAllele": "G",
          "start": 320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010360",
      "geneNCBI_id": 6125,
      "geneSymbol": "RPL5",
      "hgvs": [
        "ENST00000645908.1:n.321G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768603"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 677,
          "referenceAllele": "G",
          "start": 676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010360",
      "geneNCBI_id": 6125,
      "geneSymbol": "RPL5",
      "hgvs": [
        "ENST00000370321.7:c.587G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359345.2:p.Arg196Gln",
        "hgvsWellDefined": "ENSP00000359345.2:p.Arg196Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267996"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 906,
          "referenceAllele": "G",
          "start": 905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010360",
      "geneNCBI_id": 6125,
      "geneSymbol": "RPL5",
      "hgvs": [
        "ENST00000497519.1:n.906G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS333739"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 567,
          "endIntronDirection": "-",
          "endIntronOffset": 4480,
          "referenceAllele": "C",
          "start": 567,
          "startIntronDirection": "-",
          "startIntronOffset": 4481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN032213",
      "geneNCBI_id": 388650,
      "geneSymbol": "DIPK1A",
      "hgvs": [
        "ENST00000615519.4:c.475-4481C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483279.1:n.475-4481C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402651"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573173374",
      "coordinates": [
        {
          "allele": "A",
          "end": 665,
          "referenceAllele": "G",
          "start": 664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010360",
      "geneNCBI_id": 6125,
      "geneSymbol": "RPL5",
      "hgvs": [
        "NM_000969.3:c.587G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000960.2:p.Arg196Gln",
        "hgvsWellDefined": "NP_000960.2:p.Arg196Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006992"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 567,
          "endIntronDirection": "-",
          "endIntronOffset": 4480,
          "referenceAllele": "C",
          "start": 567,
          "startIntronDirection": "-",
          "startIntronOffset": 4481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN032213",
      "geneNCBI_id": 388650,
      "geneSymbol": "DIPK1A",
      "hgvs": [
        "NM_001252273.1:c.475-4481C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001239202.1:n.475-4481C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018880"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573173374",
      "coordinates": [
        {
          "allele": "A",
          "end": 662,
          "referenceAllele": "G",
          "start": 661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010360",
      "geneNCBI_id": 6125,
      "geneSymbol": "RPL5",
      "hgvs": [
        "NM_000969.5:c.587G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000960.2:p.Arg196Gln",
        "hgvsWellDefined": "NP_000960.2:p.Arg196Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510875",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370321.8:c.587G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000969.5:c.587G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359345.2:p.Arg196Gln"
          },
          "RefSeq": {
            "hgvs": "NP_000960.2:p.Arg196Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 646,
          "referenceAllele": "G",
          "start": 645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010360",
      "geneNCBI_id": 6125,
      "geneSymbol": "RPL5",
      "hgvs": [
        "NR_146333.1:n.646G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS530054"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 507,
          "endIntronDirection": "-",
          "endIntronOffset": 4480,
          "referenceAllele": "C",
          "start": 507,
          "startIntronDirection": "-",
          "startIntronOffset": 4481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN032213",
      "geneNCBI_id": 388650,
      "geneSymbol": "DIPK1A",
      "hgvs": [
        "NM_001252273.2:c.475-4481C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001239202.1:n.475-4481C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714624"
    }
  ],
  "type": "nucleotide"
}