{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2260696652",
  "communityStandardTitle": [
    "NM_000151.4(G6PC1):c.508C= (p.Arg170=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/373345919",
        "rs": 373345919
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 42909364,
          "referenceAllele": "C",
          "start": 42909363
        }
      ],
      "hgvs": [
        "NC_000017.11:g.42909364C=",
        "CM000679.2:g.42909364C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 41061381,
          "referenceAllele": "C",
          "start": 41061380
        }
      ],
      "hgvs": [
        "NC_000017.10:g.41061381C=",
        "CM000679.1:g.41061381C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 38314907,
          "referenceAllele": "C",
          "start": 38314906
        }
      ],
      "hgvs": [
        "NC_000017.9:g.38314907C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 13567,
          "referenceAllele": "C",
          "start": 13566
        }
      ],
      "hgvs": [
        "NG_011808.1:g.13567C=",
        "LRG_147:g.13567C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001991"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 586,
          "referenceAllele": "C",
          "start": 585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "ENST00000253801.7:c.508C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000253801.1:p.Arg170="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741623",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000253801.7:c.508C="
          },
          "RefSeq": {
            "hgvs": "NM_000151.4:c.508C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000253801.1:p.Arg170="
          },
          "RefSeq": {
            "hgvs": "NP_000142.2:p.Arg170="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 587,
          "referenceAllele": "C",
          "start": 586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "ENST00000253801.6:c.508C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000253801.1:p.Arg170="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249958"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 523,
          "endIntronDirection": "-",
          "endIntronOffset": 1550,
          "referenceAllele": "C",
          "start": 523,
          "startIntronDirection": "-",
          "startIntronOffset": 1551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "ENST00000585489.1:c.447-1551C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466202.1:n.447-1551C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS388755"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 511,
          "referenceAllele": "C",
          "start": 510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "ENST00000592383.5:c.431C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465958.1:p.Thr144="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393528"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3084076839",
      "coordinates": [
        {
          "allele": "C",
          "end": 588,
          "referenceAllele": "C",
          "start": 587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "NM_000151.3:c.508C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000142.2:p.Arg170="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006213"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826509983",
      "coordinates": [
        {
          "allele": "C",
          "end": 511,
          "referenceAllele": "C",
          "start": 510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "NM_001270397.1:c.431C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001257326.1:p.Thr144="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020260"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3084076839",
      "coordinates": [
        {
          "allele": "C",
          "end": 586,
          "referenceAllele": "C",
          "start": 585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "NM_000151.4:c.508C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000142.2:p.Arg170="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674728",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000253801.7:c.508C="
          },
          "RefSeq": {
            "hgvs": "NM_000151.4:c.508C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000253801.1:p.Arg170="
          },
          "RefSeq": {
            "hgvs": "NP_000142.2:p.Arg170="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826509983",
      "coordinates": [
        {
          "allele": "C",
          "end": 509,
          "referenceAllele": "C",
          "start": 508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "NM_001270397.2:c.431C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001257326.1:p.Thr144="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681003"
    }
  ],
  "type": "nucleotide"
}