{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA318440",
  "communityStandardTitle": [
    "NM_006516.4(SLC2A1):c.848A>G (p.Gln283Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=201152[alleleid]",
        "alleleId": 201152,
        "preferredName": "NM_006516.4(SLC2A1):c.848A>G (p.Gln283Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/207197",
        "RCV": [
          "RCV000189362"
        ],
        "variationId": 207197
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.43395283T>C?assembly=hg19",
        "id": "chr1:g.43395283T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.42929612T>C?assembly=hg38",
        "id": "chr1:g.42929612T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/796053251",
        "rs": 796053251
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 42929612,
          "referenceAllele": "T",
          "start": 42929611
        }
      ],
      "hgvs": [
        "NC_000001.11:g.42929612T>C",
        "CM000663.2:g.42929612T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 43395283,
          "referenceAllele": "T",
          "start": 43395282
        }
      ],
      "hgvs": [
        "NC_000001.10:g.43395283T>C",
        "CM000663.1:g.43395283T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 43167870,
          "referenceAllele": "T",
          "start": 43167869
        }
      ],
      "hgvs": [
        "NC_000001.9:g.43167870T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 34565,
          "referenceAllele": "A",
          "start": 34564
        }
      ],
      "hgvs": [
        "NG_008232.1:g.34565A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000964"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1065,
          "referenceAllele": "A",
          "start": 1064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "ENST00000426263.10:c.848A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416293.2:p.Gln283Arg",
        "hgvsWellDefined": "ENSP00000416293.2:p.Gln283Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755123",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000426263.10:c.848A>G"
          },
          "RefSeq": {
            "hgvs": "NM_006516.4:c.848A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000416293.2:p.Gln283Arg"
          },
          "RefSeq": {
            "hgvs": "NP_006507.2:p.Gln283Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1056,
          "referenceAllele": "A",
          "start": 1055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "ENST00000674765.1:c.848A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501811.1:p.Gln283Arg",
        "hgvsWellDefined": "ENSP00000501811.1:p.Gln283Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774682"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 871,
          "referenceAllele": "A",
          "start": 870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "ENST00000675112.1:n.871A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774978"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1297,
          "referenceAllele": "A",
          "start": 1296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "ENST00000676254.1:n.1297A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775964"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1370,
          "referenceAllele": "A",
          "start": 1369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "ENST00000426263.7:c.848A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416293.2:p.Gln283Arg",
        "hgvsWellDefined": "ENSP00000416293.2:p.Gln283Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289140"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 727,
          "referenceAllele": "A",
          "start": 726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "ENST00000439722.2:c.727A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395521.2:n.727A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295571"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 415,
          "endIntronDirection": "+",
          "endIntronOffset": 1014,
          "referenceAllele": "A",
          "start": 415,
          "startIntronDirection": "+",
          "startIntronOffset": 1013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "ENST00000475162.3:c.415+1014A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316504"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 882,
          "referenceAllele": "A",
          "start": 881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "ENST00000630287.2:c.*163A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486694.1:n.*163A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407350"
    },
    {
      "@id": "http://reg.genome.network/allele/PA318441",
      "coordinates": [
        {
          "allele": "G",
          "end": 1373,
          "referenceAllele": "A",
          "start": 1372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "NM_006516.2:c.848A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_006507.2:p.Gln283Arg",
        "hgvsWellDefined": "NP_006507.2:p.Gln283Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031524"
    },
    {
      "@id": "http://reg.genome.network/allele/PA318441",
      "coordinates": [
        {
          "allele": "G",
          "end": 1065,
          "referenceAllele": "A",
          "start": 1064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "NM_006516.3:c.848A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_006507.2:p.Gln283Arg",
        "hgvsWellDefined": "NP_006507.2:p.Gln283Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525408"
    },
    {
      "@id": "http://reg.genome.network/allele/PA318441",
      "coordinates": [
        {
          "allele": "G",
          "end": 1065,
          "referenceAllele": "A",
          "start": 1064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "NM_006516.4:c.848A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_006507.2:p.Gln283Arg",
        "hgvsWellDefined": "NP_006507.2:p.Gln283Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727748",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000426263.10:c.848A>G"
          },
          "RefSeq": {
            "hgvs": "NM_006516.4:c.848A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000416293.2:p.Gln283Arg"
          },
          "RefSeq": {
            "hgvs": "NP_006507.2:p.Gln283Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}