{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA645293896",
  "communityStandardTitle": [
    "NM_020988.3(GNAO1):c.724-8G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=415501[alleleid]",
        "alleleId": 415501,
        "preferredName": "NM_020988.3(GNAO1):c.724-8G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/426965",
        "RCV": [
          "RCV000489428",
          "RCV001291829",
          "RCV001851316",
          "RCV002466519",
          "RCV002526037",
          "RCV003900029"
        ],
        "variationId": 426965
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.56385288G>A?assembly=hg19",
        "id": "chr16:g.56385288G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.56351376G>A?assembly=hg38",
        "id": "chr16:g.56351376G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1085307876",
        "rs": 1085307876
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-56351376-G-A?dataset=gnomad_r4",
        "id": "16-56351376-G-A",
        "variant": "16:56351376 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 56351376,
          "referenceAllele": "G",
          "start": 56351375
        }
      ],
      "hgvs": [
        "NC_000016.10:g.56351376G>A",
        "CM000678.2:g.56351376G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 56385288,
          "referenceAllele": "G",
          "start": 56385287
        }
      ],
      "hgvs": [
        "NC_000016.9:g.56385288G>A",
        "CM000678.1:g.56385288G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 54942789,
          "referenceAllele": "G",
          "start": 54942788
        }
      ],
      "hgvs": [
        "NC_000016.8:g.54942789G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 165038,
          "referenceAllele": "G",
          "start": 165037
        }
      ],
      "hgvs": [
        "NG_042800.1:g.165038G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS006007"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1470,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 1470,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000262493.12:c.724-8G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262493.6:n.724-8G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742359",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262493.12:c.724-8G>A"
          },
          "RefSeq": {
            "hgvs": "NM_020988.3:c.724-8G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262493.6:n.724-8G>A"
          },
          "RefSeq": {
            "hgvs": "NP_066268.1:n.724-8G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 390,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 390,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000562316.6:c.391-8G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457238.2:n.391-8G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760355"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 27,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 27,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000564727.2:c.28-8G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454971.2:n.28-8G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760440"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 115,
          "endIntronDirection": "-",
          "endIntronOffset": 3489,
          "referenceAllele": "G",
          "start": 115,
          "startIntronDirection": "-",
          "startIntronOffset": 3490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000568375.2:c.116-3490G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760548"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 938,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 938,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000638185.1:n.939-8G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764403"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1023,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 1023,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000638210.1:n.1024-8G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764412"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1225,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 1225,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000638705.1:c.724-8G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491223.1:n.724-8G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764660"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 633,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 633,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000638836.1:n.634-8G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764728"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1444,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 1444,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000639055.1:n.1445-8G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764841"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 624,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 624,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000639251.1:n.625-8G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764939"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 358,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 358,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000639268.1:c.359-8G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764946"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 248,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 248,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000639341.1:c.249-8G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764978"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 761,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 761,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000639770.1:c.762-8G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491999.1:n.762-8G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765165"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 653,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 653,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000640390.1:n.654-8G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765475"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 87,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 87,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000640469.1:c.88-8G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491875.1:n.88-8G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765512"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 499,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 499,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000640560.1:n.500-8G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765554"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 563,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 563,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000640893.1:c.*122-8G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492677.1:n.*122-8G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765720"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1569,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 1569,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000262493.10:c.724-8G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262493.6:n.724-8G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251036"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 115,
          "endIntronDirection": "-",
          "endIntronOffset": 3489,
          "referenceAllele": "G",
          "start": 115,
          "startIntronDirection": "-",
          "startIntronOffset": 3490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000568375.1:n.116-3490G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS380740"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1620,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 1620,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "NM_020988.2:c.724-8G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_066268.1:n.724-8G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036744"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 977,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 977,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "XM_011523003.1:c.598-8G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521305.1:n.598-8G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090143"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 968,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 968,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "XM_011523003.3:c.598-8G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521305.1:n.598-8G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546847"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1470,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 1470,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "NM_020988.3:c.724-8G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_066268.1:n.724-8G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670174",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262493.12:c.724-8G>A"
          },
          "RefSeq": {
            "hgvs": "NM_020988.3:c.724-8G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262493.6:n.724-8G>A"
          },
          "RefSeq": {
            "hgvs": "NP_066268.1:n.724-8G>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}