{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1139869635",
  "communityStandardTitle": [
    "NM_006516.4(SLC2A1):c.45C= (p.Ala15=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1385129",
        "rs": 1385129
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 42943295,
          "referenceAllele": "G",
          "start": 42943294
        }
      ],
      "hgvs": [
        "NC_000001.11:g.42943295G=",
        "CM000663.2:g.42943295G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 43408966,
          "referenceAllele": "G",
          "start": 43408965
        }
      ],
      "hgvs": [
        "NC_000001.10:g.43408966G=",
        "CM000663.1:g.43408966G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 43181553,
          "referenceAllele": "G",
          "start": 43181552
        }
      ],
      "hgvs": [
        "NC_000001.9:g.43181553G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 20882,
          "referenceAllele": "C",
          "start": 20881
        }
      ],
      "hgvs": [
        "NG_008232.1:g.20882C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000964"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 262,
          "referenceAllele": "C",
          "start": 261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "ENST00000426263.10:c.45C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416293.2:p.Ala15="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755123",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000426263.10:c.45C="
          },
          "RefSeq": {
            "hgvs": "NM_006516.4:c.45C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000416293.2:p.Ala15="
          },
          "RefSeq": {
            "hgvs": "NP_006507.2:p.Ala15="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 253,
          "referenceAllele": "C",
          "start": 252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "ENST00000674765.1:c.45C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501811.1:p.Ala15="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774682"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 68,
          "referenceAllele": "C",
          "start": 67
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "ENST00000675112.1:n.68C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774978"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 203,
          "endIntronDirection": "-",
          "endIntronOffset": 12088,
          "referenceAllele": "C",
          "start": 203,
          "startIntronDirection": "-",
          "startIntronOffset": 12089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "ENST00000372500.4:c.19-12089C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361578.4:n.19-12089C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269137"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 262,
          "referenceAllele": "C",
          "start": 261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "ENST00000415851.6:n.262C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS284182"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 567,
          "referenceAllele": "C",
          "start": 566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "ENST00000426263.7:c.45C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416293.2:p.Ala15="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289140"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 253,
          "referenceAllele": "C",
          "start": 252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "ENST00000625233.2:n.253C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS406542"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 264,
          "referenceAllele": "C",
          "start": 263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "ENST00000628173.1:n.264C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407004"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 242,
          "referenceAllele": "C",
          "start": 241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "ENST00000630287.2:c.45C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486694.1:p.Ala15="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407350"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 262,
          "referenceAllele": "C",
          "start": 261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "ENST00000630821.1:n.262C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407426"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829669301",
      "coordinates": [
        {
          "allele": "C",
          "end": 570,
          "referenceAllele": "C",
          "start": 569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "NM_006516.2:c.45C="
      ],
      "proteinEffect": {
        "hgvs": "NP_006507.2:p.Ala15="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031524"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829669301",
      "coordinates": [
        {
          "allele": "C",
          "end": 262,
          "referenceAllele": "C",
          "start": 261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "NM_006516.3:c.45C="
      ],
      "proteinEffect": {
        "hgvs": "NP_006507.2:p.Ala15="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525408"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829669301",
      "coordinates": [
        {
          "allele": "C",
          "end": 262,
          "referenceAllele": "C",
          "start": 261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "NM_006516.4:c.45C="
      ],
      "proteinEffect": {
        "hgvs": "NP_006507.2:p.Ala15="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727748",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000426263.10:c.45C="
          },
          "RefSeq": {
            "hgvs": "NM_006516.4:c.45C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000416293.2:p.Ala15="
          },
          "RefSeq": {
            "hgvs": "NP_006507.2:p.Ala15="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}