{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA355489802",
  "communityStandardTitle": [
    "NM_000340.2(SLC2A2):c.613-1G>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=513532[alleleid]",
        "alleleId": 513532,
        "preferredName": "NM_000340.2(SLC2A2):c.613-1G>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/523034",
        "RCV": [
          "RCV000626238"
        ],
        "variationId": 523034
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.170723895C>G?assembly=hg19",
        "id": "chr3:g.170723895C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.171006106C>G?assembly=hg38",
        "id": "chr3:g.171006106C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1553786361",
        "rs": 1553786361
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 171006106,
          "referenceAllele": "C",
          "start": 171006105
        }
      ],
      "hgvs": [
        "NC_000003.12:g.171006106C>G",
        "CM000665.2:g.171006106C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 170723895,
          "referenceAllele": "C",
          "start": 170723894
        }
      ],
      "hgvs": [
        "NC_000003.11:g.170723895C>G",
        "CM000665.1:g.170723895C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 172206589,
          "referenceAllele": "C",
          "start": 172206588
        }
      ],
      "hgvs": [
        "NC_000003.10:g.172206589C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 25874,
          "referenceAllele": "G",
          "start": 25873
        }
      ],
      "hgvs": [
        "NG_008108.1:g.25874G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000853"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 662,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 662,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "ENST00000314251.8:c.613-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323568.3:n.613-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745912",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000314251.8:c.613-1G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000340.2:c.613-1G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000323568.3:n.613-1G>C"
          },
          "RefSeq": {
            "hgvs": "NP_000331.1:n.613-1G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 692,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 692,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "ENST00000314251.7:c.613-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323568.3:n.613-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256927"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 209,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 209,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "ENST00000461867.1:c.94-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418888.1:n.94-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS306279"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 422,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 422,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "ENST00000469787.1:c.*80-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417918.1:n.*80-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS312381"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 323,
          "endIntronDirection": "-",
          "endIntronOffset": 633,
          "referenceAllele": "G",
          "start": 323,
          "startIntronDirection": "-",
          "startIntronOffset": 634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "ENST00000471379.1:n.324-634G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS313594"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 537,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 537,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "ENST00000497642.5:c.*80-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418456.1:n.*80-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS333831"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 921,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 921,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "NM_000340.1:c.613-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000331.1:n.613-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006403"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 658,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 658,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "NM_001278658.1:c.256-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265587.1:n.256-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021447"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 796,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 796,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "NM_001278659.1:c.94-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265588.1:n.94-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021448"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 668,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 668,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "XM_011513087.1:c.568-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511389.1:n.568-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080342"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 523,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 523,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "XM_011513088.1:c.394-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511390.1:n.394-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080343"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 209,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 209,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "XM_011513089.1:c.94-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511391.1:n.94-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080344"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 668,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 668,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "XM_011513087.2:c.568-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511389.1:n.568-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542777"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 275,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 275,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "XM_024453720.1:c.94-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309488.1:n.94-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587095"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 662,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 662,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "NM_000340.2:c.613-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000331.1:n.613-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662407",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000314251.8:c.613-1G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000340.2:c.613-1G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000323568.3:n.613-1G>C"
          },
          "RefSeq": {
            "hgvs": "NP_000331.1:n.613-1G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 399,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 399,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "NM_001278658.2:c.256-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265587.1:n.256-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681539"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 537,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 537,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "NM_001278659.2:c.94-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265588.1:n.94-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681540"
    }
  ],
  "type": "nucleotide"
}