{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA399657354",
  "communityStandardTitle": [
    "NM_000151.4(G6PC1):c.966C>G (p.Phe322Leu)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.41063335C>G?assembly=hg19",
        "id": "chr17:g.41063335C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.42911318C>G?assembly=hg38",
        "id": "chr17:g.42911318C>G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 42911318,
          "referenceAllele": "C",
          "start": 42911317
        }
      ],
      "hgvs": [
        "NC_000017.11:g.42911318C>G",
        "CM000679.2:g.42911318C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 41063335,
          "referenceAllele": "C",
          "start": 41063334
        }
      ],
      "hgvs": [
        "NC_000017.10:g.41063335C>G",
        "CM000679.1:g.41063335C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 38316861,
          "referenceAllele": "C",
          "start": 38316860
        }
      ],
      "hgvs": [
        "NC_000017.9:g.38316861C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 15521,
          "referenceAllele": "C",
          "start": 15520
        }
      ],
      "hgvs": [
        "NG_011808.1:g.15521C>G",
        "LRG_147:g.15521C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001991"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1044,
          "referenceAllele": "C",
          "start": 1043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "ENST00000253801.7:c.966C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000253801.1:p.Phe322Leu",
        "hgvsWellDefined": "ENSP00000253801.1:p.Phe322Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741623",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000253801.7:c.966C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000151.4:c.966C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000253801.1:p.Phe322Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000142.2:p.Phe322Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1045,
          "referenceAllele": "C",
          "start": 1044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "ENST00000253801.6:c.966C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000253801.1:p.Phe322Leu",
        "hgvsWellDefined": "ENSP00000253801.1:p.Phe322Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249958"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 927,
          "referenceAllele": "C",
          "start": 926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "ENST00000585489.1:c.*358C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466202.1:n.*358C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS388755"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 969,
          "referenceAllele": "C",
          "start": 968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "ENST00000592383.5:c.*358C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465958.1:n.*358C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393528"
    },
    {
      "@id": "http://reg.genome.network/allele/PA112598",
      "coordinates": [
        {
          "allele": "G",
          "end": 1046,
          "referenceAllele": "C",
          "start": 1045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "NM_000151.3:c.966C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000142.2:p.Phe322Leu",
        "hgvsWellDefined": "NP_000142.2:p.Phe322Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006213"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 969,
          "referenceAllele": "C",
          "start": 968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "NM_001270397.1:c.*358C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257326.1:n.*358C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020260"
    },
    {
      "@id": "http://reg.genome.network/allele/PA112598",
      "coordinates": [
        {
          "allele": "G",
          "end": 1044,
          "referenceAllele": "C",
          "start": 1043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "NM_000151.4:c.966C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000142.2:p.Phe322Leu",
        "hgvsWellDefined": "NP_000142.2:p.Phe322Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674728",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000253801.7:c.966C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000151.4:c.966C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000253801.1:p.Phe322Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000142.2:p.Phe322Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 967,
          "referenceAllele": "C",
          "start": 966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "NM_001270397.2:c.*358C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257326.1:n.*358C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681003"
    }
  ],
  "type": "nucleotide"
}