{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA500229800",
  "communityStandardTitle": [
    "NM_000151.4(G6PC1):c.903C>T (p.Ala301=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2009770[alleleid]",
        "alleleId": 2009770,
        "preferredName": "NM_000151.4(G6PC1):c.903C>T (p.Ala301=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1960829",
        "RCV": [
          "RCV002715689"
        ],
        "variationId": 1960829
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.41063272C>T?assembly=hg19",
        "id": "chr17:g.41063272C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2544214384",
        "rs": 2544214384
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 42911255,
          "referenceAllele": "C",
          "start": 42911254
        }
      ],
      "hgvs": [
        "NC_000017.11:g.42911255C>T",
        "CM000679.2:g.42911255C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 41063272,
          "referenceAllele": "C",
          "start": 41063271
        }
      ],
      "hgvs": [
        "NC_000017.10:g.41063272C>T",
        "CM000679.1:g.41063272C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 38316798,
          "referenceAllele": "C",
          "start": 38316797
        }
      ],
      "hgvs": [
        "NC_000017.9:g.38316798C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 15458,
          "referenceAllele": "C",
          "start": 15457
        }
      ],
      "hgvs": [
        "NG_011808.1:g.15458C>T",
        "LRG_147:g.15458C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001991"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 981,
          "referenceAllele": "C",
          "start": 980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "ENST00000253801.7:c.903C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000253801.1:p.Ala301="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741623",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000253801.7:c.903C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000151.4:c.903C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000253801.1:p.Ala301="
          },
          "RefSeq": {
            "hgvs": "NP_000142.2:p.Ala301="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 982,
          "referenceAllele": "C",
          "start": 981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "ENST00000253801.6:c.903C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000253801.1:p.Ala301="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249958"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 864,
          "referenceAllele": "C",
          "start": 863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "ENST00000585489.1:c.*295C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466202.1:n.*295C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS388755"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 906,
          "referenceAllele": "C",
          "start": 905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "ENST00000592383.5:c.*295C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465958.1:n.*295C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393528"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825064739",
      "coordinates": [
        {
          "allele": "T",
          "end": 983,
          "referenceAllele": "C",
          "start": 982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "NM_000151.3:c.903C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000142.2:p.Ala301="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006213"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 906,
          "referenceAllele": "C",
          "start": 905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "NM_001270397.1:c.*295C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257326.1:n.*295C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020260"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825064739",
      "coordinates": [
        {
          "allele": "T",
          "end": 981,
          "referenceAllele": "C",
          "start": 980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "NM_000151.4:c.903C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000142.2:p.Ala301="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674728",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000253801.7:c.903C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000151.4:c.903C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000253801.1:p.Ala301="
          },
          "RefSeq": {
            "hgvs": "NP_000142.2:p.Ala301="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 904,
          "referenceAllele": "C",
          "start": 903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "NM_001270397.2:c.*295C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257326.1:n.*295C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681003"
    }
  ],
  "type": "nucleotide"
}