{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2224102496",
  "communityStandardTitle": [
    "NM_020988.3(GNAO1):c.626G= (p.Arg209=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/797044878",
        "rs": 797044878
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 56336763,
          "referenceAllele": "G",
          "start": 56336762
        }
      ],
      "hgvs": [
        "NC_000016.10:g.56336763G=",
        "CM000678.2:g.56336763G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 56370675,
          "referenceAllele": "G",
          "start": 56370674
        }
      ],
      "hgvs": [
        "NC_000016.9:g.56370675G=",
        "CM000678.1:g.56370675G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 54928176,
          "referenceAllele": "G",
          "start": 54928175
        }
      ],
      "hgvs": [
        "NC_000016.8:g.54928176G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 150425,
          "referenceAllele": "G",
          "start": 150424
        }
      ],
      "hgvs": [
        "NG_042800.1:g.150425G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS006007"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1373,
          "referenceAllele": "G",
          "start": 1372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000262494.13:c.626G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262494.7:p.Arg209="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904321"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1373,
          "referenceAllele": "G",
          "start": 1372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000262493.12:c.626G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262493.6:p.Arg209="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742359",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262493.12:c.626G="
          },
          "RefSeq": {
            "hgvs": "NM_020988.3:c.626G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262493.6:p.Arg209="
          },
          "RefSeq": {
            "hgvs": "NP_066268.1:p.Arg209="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1079,
          "referenceAllele": "G",
          "start": 1078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000262494.12:c.626G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262494.7:p.Arg209="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742360"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 293,
          "referenceAllele": "G",
          "start": 292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000562316.6:c.293G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457238.2:p.Arg98="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760355"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 18,
          "referenceAllele": "G",
          "start": 17
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000568375.2:c.18G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760548"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 841,
          "referenceAllele": "G",
          "start": 840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000638185.1:n.841G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764403"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 926,
          "referenceAllele": "G",
          "start": 925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000638210.1:n.926G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764412"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1128,
          "referenceAllele": "G",
          "start": 1127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000638705.1:c.626G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491223.1:p.Arg209="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764660"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 536,
          "referenceAllele": "G",
          "start": 535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000638836.1:n.536G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764728"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1347,
          "referenceAllele": "G",
          "start": 1346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000639055.1:n.1347G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764841"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 527,
          "referenceAllele": "G",
          "start": 526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000639251.1:n.527G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764939"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 261,
          "referenceAllele": "G",
          "start": 260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000639268.1:c.261G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764946"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 151,
          "referenceAllele": "G",
          "start": 150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000639341.1:c.151G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764978"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 664,
          "referenceAllele": "G",
          "start": 663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000639770.1:c.664G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491999.1:n.664G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765165"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 556,
          "referenceAllele": "G",
          "start": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000640390.1:n.556G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765475"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 402,
          "referenceAllele": "G",
          "start": 401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000640560.1:n.402G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765554"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 466,
          "referenceAllele": "G",
          "start": 465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000640893.1:c.*24G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492677.1:n.*24G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765720"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1472,
          "referenceAllele": "G",
          "start": 1471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000262493.10:c.626G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262493.6:p.Arg209="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251036"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 886,
          "referenceAllele": "G",
          "start": 885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000262494.11:c.626G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262494.7:p.Arg209="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251037"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 18,
          "referenceAllele": "G",
          "start": 17
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000568375.1:n.18G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS380740"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1523,
          "referenceAllele": "G",
          "start": 1522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "NM_020988.2:c.626G="
      ],
      "proteinEffect": {
        "hgvs": "NP_066268.1:p.Arg209="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036744"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083221353",
      "coordinates": [
        {
          "allele": "G",
          "end": 1523,
          "referenceAllele": "G",
          "start": 1522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "NM_138736.2:c.626G="
      ],
      "proteinEffect": {
        "hgvs": "NP_620073.2:p.Arg209="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040853"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 880,
          "referenceAllele": "G",
          "start": 879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "XM_011523003.1:c.500G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011521305.1:p.Arg167="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090143"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 871,
          "referenceAllele": "G",
          "start": 870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "XM_011523003.3:c.500G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011521305.1:p.Arg167="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546847"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1373,
          "referenceAllele": "G",
          "start": 1372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "NM_020988.3:c.626G="
      ],
      "proteinEffect": {
        "hgvs": "NP_066268.1:p.Arg209="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670174",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262493.12:c.626G="
          },
          "RefSeq": {
            "hgvs": "NM_020988.3:c.626G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262493.6:p.Arg209="
          },
          "RefSeq": {
            "hgvs": "NP_066268.1:p.Arg209="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083221353",
      "coordinates": [
        {
          "allele": "G",
          "end": 1373,
          "referenceAllele": "G",
          "start": 1372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "NM_138736.3:c.626G="
      ],
      "proteinEffect": {
        "hgvs": "NP_620073.2:p.Arg209="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699783"
    }
  ],
  "type": "nucleotide"
}