{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA355488036",
  "communityStandardTitle": [
    "NM_000340.2(SLC2A2):c.952G>C (p.Gly318Arg)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.170723085C>G?assembly=hg19",
        "id": "chr3:g.170723085C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.171005296C>G?assembly=hg38",
        "id": "chr3:g.171005296C>G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 171005296,
          "referenceAllele": "C",
          "start": 171005295
        }
      ],
      "hgvs": [
        "NC_000003.12:g.171005296C>G",
        "CM000665.2:g.171005296C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 170723085,
          "referenceAllele": "C",
          "start": 170723084
        }
      ],
      "hgvs": [
        "NC_000003.11:g.170723085C>G",
        "CM000665.1:g.170723085C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 172205779,
          "referenceAllele": "C",
          "start": 172205778
        }
      ],
      "hgvs": [
        "NC_000003.10:g.172205779C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 26684,
          "referenceAllele": "G",
          "start": 26683
        }
      ],
      "hgvs": [
        "NG_008108.1:g.26684G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000853"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1002,
          "referenceAllele": "G",
          "start": 1001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "ENST00000314251.8:c.952G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323568.3:p.Gly318Arg",
        "hgvsWellDefined": "ENSP00000323568.3:p.Gly318Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745912",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000314251.8:c.952G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000340.2:c.952G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000323568.3:p.Gly318Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000331.1:p.Gly318Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1032,
          "referenceAllele": "G",
          "start": 1031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "ENST00000314251.7:c.952G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323568.3:p.Gly318Arg",
        "hgvsWellDefined": "ENSP00000323568.3:p.Gly318Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256927"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 762,
          "referenceAllele": "G",
          "start": 761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "ENST00000469787.1:c.*419G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417918.1:n.*419G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS312381"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 877,
          "referenceAllele": "G",
          "start": 876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "ENST00000497642.5:c.*419G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418456.1:n.*419G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS333831"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573062306",
      "coordinates": [
        {
          "allele": "C",
          "end": 1261,
          "referenceAllele": "G",
          "start": 1260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "NM_000340.1:c.952G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000331.1:p.Gly318Arg",
        "hgvsWellDefined": "NP_000331.1:p.Gly318Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006403"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826611495",
      "coordinates": [
        {
          "allele": "C",
          "end": 998,
          "referenceAllele": "G",
          "start": 997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "NM_001278658.1:c.595G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265587.1:p.Gly199Arg",
        "hgvsWellDefined": "NP_001265587.1:p.Gly199Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021447"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826611596",
      "coordinates": [
        {
          "allele": "C",
          "end": 1136,
          "referenceAllele": "G",
          "start": 1135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "NM_001278659.1:c.433G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265588.1:p.Gly145Arg",
        "hgvsWellDefined": "NP_001265588.1:p.Gly145Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021448"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1008,
          "referenceAllele": "G",
          "start": 1007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "XM_011513087.1:c.907G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511389.1:p.Gly303Arg",
        "hgvsWellDefined": "XP_011511389.1:p.Gly303Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080342"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 863,
          "referenceAllele": "G",
          "start": 862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "XM_011513088.1:c.733G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511390.1:p.Gly245Arg",
        "hgvsWellDefined": "XP_011511390.1:p.Gly245Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080343"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 549,
          "referenceAllele": "G",
          "start": 548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "XM_011513089.1:c.433G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511391.1:p.Gly145Arg",
        "hgvsWellDefined": "XP_011511391.1:p.Gly145Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080344"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1008,
          "referenceAllele": "G",
          "start": 1007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "XM_011513087.2:c.907G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511389.1:p.Gly303Arg",
        "hgvsWellDefined": "XP_011511389.1:p.Gly303Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542777"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 615,
          "referenceAllele": "G",
          "start": 614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "XM_024453720.1:c.433G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309488.1:p.Gly145Arg",
        "hgvsWellDefined": "XP_024309488.1:p.Gly145Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587095"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573062306",
      "coordinates": [
        {
          "allele": "C",
          "end": 1002,
          "referenceAllele": "G",
          "start": 1001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "NM_000340.2:c.952G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000331.1:p.Gly318Arg",
        "hgvsWellDefined": "NP_000331.1:p.Gly318Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662407",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000314251.8:c.952G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000340.2:c.952G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000323568.3:p.Gly318Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000331.1:p.Gly318Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826611495",
      "coordinates": [
        {
          "allele": "C",
          "end": 739,
          "referenceAllele": "G",
          "start": 738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "NM_001278658.2:c.595G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265587.1:p.Gly199Arg",
        "hgvsWellDefined": "NP_001265587.1:p.Gly199Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681539"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826611596",
      "coordinates": [
        {
          "allele": "C",
          "end": 877,
          "referenceAllele": "G",
          "start": 876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "NM_001278659.2:c.433G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265588.1:p.Gly145Arg",
        "hgvsWellDefined": "NP_001265588.1:p.Gly145Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681540"
    }
  ],
  "type": "nucleotide"
}