{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2224102516",
  "communityStandardTitle": [
    "NM_020988.3(GNAO1):c.709G= (p.Glu237=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064794533",
        "rs": 1064794533
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 56336846,
          "referenceAllele": "G",
          "start": 56336845
        }
      ],
      "hgvs": [
        "NC_000016.10:g.56336846G=",
        "CM000678.2:g.56336846G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 56370758,
          "referenceAllele": "G",
          "start": 56370757
        }
      ],
      "hgvs": [
        "NC_000016.9:g.56370758G=",
        "CM000678.1:g.56370758G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 54928259,
          "referenceAllele": "G",
          "start": 54928258
        }
      ],
      "hgvs": [
        "NC_000016.8:g.54928259G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 150508,
          "referenceAllele": "G",
          "start": 150507
        }
      ],
      "hgvs": [
        "NG_042800.1:g.150508G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS006007"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1456,
          "referenceAllele": "G",
          "start": 1455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000262494.13:c.709G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262494.7:p.Glu237="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904321"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1456,
          "referenceAllele": "G",
          "start": 1455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000262493.12:c.709G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262493.6:p.Glu237="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742359",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262493.12:c.709G="
          },
          "RefSeq": {
            "hgvs": "NM_020988.3:c.709G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262493.6:p.Glu237="
          },
          "RefSeq": {
            "hgvs": "NP_066268.1:p.Glu237="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1162,
          "referenceAllele": "G",
          "start": 1161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000262494.12:c.709G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262494.7:p.Glu237="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742360"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 376,
          "referenceAllele": "G",
          "start": 375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000562316.6:c.376G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457238.2:p.Glu126="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760355"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13,
          "referenceAllele": "G",
          "start": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000564727.2:c.13G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454971.2:p.Glu5="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760440"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 101,
          "referenceAllele": "G",
          "start": 100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000568375.2:c.101G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760548"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 924,
          "referenceAllele": "G",
          "start": 923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000638185.1:n.924G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764403"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1009,
          "referenceAllele": "G",
          "start": 1008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000638210.1:n.1009G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764412"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1211,
          "referenceAllele": "G",
          "start": 1210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000638705.1:c.709G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491223.1:p.Glu237="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764660"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 619,
          "referenceAllele": "G",
          "start": 618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000638836.1:n.619G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764728"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1430,
          "referenceAllele": "G",
          "start": 1429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000639055.1:n.1430G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764841"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 610,
          "referenceAllele": "G",
          "start": 609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000639251.1:n.610G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764939"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 344,
          "referenceAllele": "G",
          "start": 343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000639268.1:c.344G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764946"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 234,
          "referenceAllele": "G",
          "start": 233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000639341.1:c.234G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764978"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 747,
          "referenceAllele": "G",
          "start": 746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000639770.1:c.747G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491999.1:n.747G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765165"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 639,
          "referenceAllele": "G",
          "start": 638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000640390.1:n.639G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765475"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 73,
          "referenceAllele": "G",
          "start": 72
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000640469.1:c.73G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491875.1:p.Glu25="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765512"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 485,
          "referenceAllele": "G",
          "start": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000640560.1:n.485G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765554"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 549,
          "referenceAllele": "G",
          "start": 548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000640893.1:c.*107G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492677.1:n.*107G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765720"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1555,
          "referenceAllele": "G",
          "start": 1554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000262493.10:c.709G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262493.6:p.Glu237="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251036"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 969,
          "referenceAllele": "G",
          "start": 968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000262494.11:c.709G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262494.7:p.Glu237="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251037"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 101,
          "referenceAllele": "G",
          "start": 100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000568375.1:n.101G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS380740"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1606,
          "referenceAllele": "G",
          "start": 1605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "NM_020988.2:c.709G="
      ],
      "proteinEffect": {
        "hgvs": "NP_066268.1:p.Glu237="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036744"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083289549",
      "coordinates": [
        {
          "allele": "G",
          "end": 1606,
          "referenceAllele": "G",
          "start": 1605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "NM_138736.2:c.709G="
      ],
      "proteinEffect": {
        "hgvs": "NP_620073.2:p.Glu237="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040853"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 963,
          "referenceAllele": "G",
          "start": 962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "XM_011523003.1:c.583G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011521305.1:p.Glu195="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090143"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 954,
          "referenceAllele": "G",
          "start": 953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "XM_011523003.3:c.583G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011521305.1:p.Glu195="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546847"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1456,
          "referenceAllele": "G",
          "start": 1455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "NM_020988.3:c.709G="
      ],
      "proteinEffect": {
        "hgvs": "NP_066268.1:p.Glu237="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670174",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262493.12:c.709G="
          },
          "RefSeq": {
            "hgvs": "NM_020988.3:c.709G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262493.6:p.Glu237="
          },
          "RefSeq": {
            "hgvs": "NP_066268.1:p.Glu237="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083289549",
      "coordinates": [
        {
          "allele": "G",
          "end": 1456,
          "referenceAllele": "G",
          "start": 1455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "NM_138736.3:c.709G="
      ],
      "proteinEffect": {
        "hgvs": "NP_620073.2:p.Glu237="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699783"
    }
  ],
  "type": "nucleotide"
}