{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1144228773",
  "communityStandardTitle": [
    "NM_006516.4(SLC2A1):c.694C= (p.Arg232=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/387907313",
        "rs": 387907313
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 42929766,
          "referenceAllele": "G",
          "start": 42929765
        }
      ],
      "hgvs": [
        "NC_000001.11:g.42929766G=",
        "CM000663.2:g.42929766G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 43395437,
          "referenceAllele": "G",
          "start": 43395436
        }
      ],
      "hgvs": [
        "NC_000001.10:g.43395437G=",
        "CM000663.1:g.43395437G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 43168024,
          "referenceAllele": "G",
          "start": 43168023
        }
      ],
      "hgvs": [
        "NC_000001.9:g.43168024G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 34411,
          "referenceAllele": "C",
          "start": 34410
        }
      ],
      "hgvs": [
        "NG_008232.1:g.34411C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000964"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 911,
          "referenceAllele": "C",
          "start": 910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "ENST00000426263.10:c.694C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416293.2:p.Arg232="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755123",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000426263.10:c.694C="
          },
          "RefSeq": {
            "hgvs": "NM_006516.4:c.694C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000416293.2:p.Arg232="
          },
          "RefSeq": {
            "hgvs": "NP_006507.2:p.Arg232="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 56,
          "endIntronDirection": "-",
          "endIntronOffset": 32,
          "referenceAllele": "C",
          "start": 56,
          "startIntronDirection": "-",
          "startIntronOffset": 33
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "ENST00000669445.1:c.57-33C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773062"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 902,
          "referenceAllele": "C",
          "start": 901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "ENST00000674765.1:c.694C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501811.1:p.Arg232="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774682"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 717,
          "referenceAllele": "C",
          "start": 716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "ENST00000675112.1:n.717C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774978"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1143,
          "referenceAllele": "C",
          "start": 1142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "ENST00000676254.1:n.1143C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775964"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1216,
          "referenceAllele": "C",
          "start": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "ENST00000426263.7:c.694C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416293.2:p.Arg232="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289140"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 573,
          "referenceAllele": "C",
          "start": 572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "ENST00000439722.2:c.573C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395521.2:n.573C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295571"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 415,
          "endIntronDirection": "+",
          "endIntronOffset": 860,
          "referenceAllele": "C",
          "start": 415,
          "startIntronDirection": "+",
          "startIntronOffset": 859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "ENST00000475162.3:c.415+860C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316504"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 728,
          "referenceAllele": "C",
          "start": 727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "ENST00000630287.2:c.*9C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486694.1:n.*9C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407350"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829669379",
      "coordinates": [
        {
          "allele": "C",
          "end": 1219,
          "referenceAllele": "C",
          "start": 1218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "NM_006516.2:c.694C="
      ],
      "proteinEffect": {
        "hgvs": "NP_006507.2:p.Arg232="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031524"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829669379",
      "coordinates": [
        {
          "allele": "C",
          "end": 911,
          "referenceAllele": "C",
          "start": 910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "NM_006516.3:c.694C="
      ],
      "proteinEffect": {
        "hgvs": "NP_006507.2:p.Arg232="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525408"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829669379",
      "coordinates": [
        {
          "allele": "C",
          "end": 911,
          "referenceAllele": "C",
          "start": 910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "NM_006516.4:c.694C="
      ],
      "proteinEffect": {
        "hgvs": "NP_006507.2:p.Arg232="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727748",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000426263.10:c.694C="
          },
          "RefSeq": {
            "hgvs": "NM_006516.4:c.694C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000416293.2:p.Arg232="
          },
          "RefSeq": {
            "hgvs": "NP_006507.2:p.Arg232="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}