{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2260692902",
  "communityStandardTitle": [
    "NM_000151.4(G6PC1):c.161A= (p.Gln54=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057517008",
        "rs": 1057517008
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 42901037,
          "referenceAllele": "A",
          "start": 42901036
        }
      ],
      "hgvs": [
        "NC_000017.11:g.42901037A=",
        "CM000679.2:g.42901037A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 41053054,
          "referenceAllele": "A",
          "start": 41053053
        }
      ],
      "hgvs": [
        "NC_000017.10:g.41053054A=",
        "CM000679.1:g.41053054A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 38306580,
          "referenceAllele": "A",
          "start": 38306579
        }
      ],
      "hgvs": [
        "NC_000017.9:g.38306580A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5240,
          "referenceAllele": "A",
          "start": 5239
        }
      ],
      "hgvs": [
        "NG_011808.1:g.5240A=",
        "LRG_147:g.5240A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001991"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 239,
          "referenceAllele": "A",
          "start": 238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "ENST00000253801.7:c.161A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000253801.1:p.Gln54="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741623",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000253801.7:c.161A="
          },
          "RefSeq": {
            "hgvs": "NM_000151.4:c.161A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000253801.1:p.Gln54="
          },
          "RefSeq": {
            "hgvs": "NP_000142.2:p.Gln54="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 240,
          "referenceAllele": "A",
          "start": 239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "ENST00000253801.6:c.161A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000253801.1:p.Gln54="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249958"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 238,
          "referenceAllele": "A",
          "start": 237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "ENST00000585489.1:c.161A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466202.1:p.Gln54="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS388755"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 226,
          "referenceAllele": "A",
          "start": 225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "ENST00000588481.1:n.226A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS390806"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 241,
          "referenceAllele": "A",
          "start": 240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "ENST00000592383.5:c.161A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465958.1:p.Gln54="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393528"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3084559093",
      "coordinates": [
        {
          "allele": "A",
          "end": 241,
          "referenceAllele": "A",
          "start": 240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "NM_000151.3:c.161A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000142.2:p.Gln54="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006213"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 241,
          "referenceAllele": "A",
          "start": 240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "NM_001270397.1:c.161A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001257326.1:p.Gln54="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020260"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3084559093",
      "coordinates": [
        {
          "allele": "A",
          "end": 239,
          "referenceAllele": "A",
          "start": 238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "NM_000151.4:c.161A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000142.2:p.Gln54="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674728",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000253801.7:c.161A="
          },
          "RefSeq": {
            "hgvs": "NM_000151.4:c.161A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000253801.1:p.Gln54="
          },
          "RefSeq": {
            "hgvs": "NP_000142.2:p.Gln54="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 239,
          "referenceAllele": "A",
          "start": 238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "NM_001270397.2:c.161A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001257326.1:p.Gln54="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681003"
    }
  ],
  "type": "nucleotide"
}