{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2260697412",
  "communityStandardTitle": [
    "NM_000151.4(G6PC1):c.798C= (p.Gly266=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/749323139",
        "rs": 749323139
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1376958926",
        "rs": 1376958926
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 42911150,
          "referenceAllele": "C",
          "start": 42911149
        }
      ],
      "hgvs": [
        "NC_000017.11:g.42911150C=",
        "CM000679.2:g.42911150C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 41063167,
          "referenceAllele": "C",
          "start": 41063166
        }
      ],
      "hgvs": [
        "NC_000017.10:g.41063167C=",
        "CM000679.1:g.41063167C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 38316693,
          "referenceAllele": "C",
          "start": 38316692
        }
      ],
      "hgvs": [
        "NC_000017.9:g.38316693C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 15353,
          "referenceAllele": "C",
          "start": 15352
        }
      ],
      "hgvs": [
        "NG_011808.1:g.15353C=",
        "LRG_147:g.15353C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001991"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 876,
          "referenceAllele": "C",
          "start": 875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "ENST00000253801.7:c.798C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000253801.1:p.Gly266="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741623",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000253801.7:c.798C="
          },
          "RefSeq": {
            "hgvs": "NM_000151.4:c.798C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000253801.1:p.Gly266="
          },
          "RefSeq": {
            "hgvs": "NP_000142.2:p.Gly266="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 877,
          "referenceAllele": "C",
          "start": 876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "ENST00000253801.6:c.798C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000253801.1:p.Gly266="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249958"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 759,
          "referenceAllele": "C",
          "start": 758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "ENST00000585489.1:c.*190C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466202.1:n.*190C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS388755"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 801,
          "referenceAllele": "C",
          "start": 800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "ENST00000592383.5:c.*190C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465958.1:n.*190C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393528"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3084177713",
      "coordinates": [
        {
          "allele": "C",
          "end": 878,
          "referenceAllele": "C",
          "start": 877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "NM_000151.3:c.798C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000142.2:p.Gly266="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006213"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 801,
          "referenceAllele": "C",
          "start": 800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "NM_001270397.1:c.*190C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001257326.1:n.*190C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020260"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3084177713",
      "coordinates": [
        {
          "allele": "C",
          "end": 876,
          "referenceAllele": "C",
          "start": 875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "NM_000151.4:c.798C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000142.2:p.Gly266="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674728",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000253801.7:c.798C="
          },
          "RefSeq": {
            "hgvs": "NM_000151.4:c.798C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000253801.1:p.Gly266="
          },
          "RefSeq": {
            "hgvs": "NP_000142.2:p.Gly266="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 799,
          "referenceAllele": "C",
          "start": 798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "NM_001270397.2:c.*190C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001257326.1:n.*190C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681003"
    }
  ],
  "type": "nucleotide"
}