{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1141188974",
  "communityStandardTitle": [
    "NM_006516.4(SLC2A1):c.436G= (p.Glu146=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80359820",
        "rs": 80359820
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 42930706,
          "referenceAllele": "C",
          "start": 42930705
        }
      ],
      "hgvs": [
        "NC_000001.11:g.42930706C=",
        "CM000663.2:g.42930706C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 43396377,
          "referenceAllele": "C",
          "start": 43396376
        }
      ],
      "hgvs": [
        "NC_000001.10:g.43396377C=",
        "CM000663.1:g.43396377C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 43168964,
          "referenceAllele": "C",
          "start": 43168963
        }
      ],
      "hgvs": [
        "NC_000001.9:g.43168964C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 33471,
          "referenceAllele": "G",
          "start": 33470
        }
      ],
      "hgvs": [
        "NG_008232.1:g.33471G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000964"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 653,
          "referenceAllele": "G",
          "start": 652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "ENST00000426263.10:c.436G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416293.2:p.Glu146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755123",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000426263.10:c.436G="
          },
          "RefSeq": {
            "hgvs": "NM_006516.4:c.436G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000416293.2:p.Glu146="
          },
          "RefSeq": {
            "hgvs": "NP_006507.2:p.Glu146="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 644,
          "referenceAllele": "G",
          "start": 643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "ENST00000674765.1:c.436G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501811.1:p.Glu146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774682"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 459,
          "referenceAllele": "G",
          "start": 458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "ENST00000675112.1:n.459G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774978"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 885,
          "referenceAllele": "G",
          "start": 884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "ENST00000676254.1:n.885G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775964"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 525,
          "referenceAllele": "G",
          "start": 524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "ENST00000372500.4:c.340G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361578.4:p.Glu114="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269137"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 958,
          "referenceAllele": "G",
          "start": 957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "ENST00000426263.7:c.436G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416293.2:p.Glu146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289140"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 315,
          "referenceAllele": "G",
          "start": 314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "ENST00000439722.2:c.315G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395521.2:n.315G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295571"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 335,
          "referenceAllele": "G",
          "start": 334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "ENST00000475162.3:c.335G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316504"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 644,
          "referenceAllele": "G",
          "start": 643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "ENST00000625233.2:n.644G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS406542"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 633,
          "referenceAllele": "G",
          "start": 632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "ENST00000630287.2:c.436G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486694.1:p.Glu146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407350"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063906572",
      "coordinates": [
        {
          "allele": "G",
          "end": 961,
          "referenceAllele": "G",
          "start": 960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "NM_006516.2:c.436G="
      ],
      "proteinEffect": {
        "hgvs": "NP_006507.2:p.Glu146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031524"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063906572",
      "coordinates": [
        {
          "allele": "G",
          "end": 653,
          "referenceAllele": "G",
          "start": 652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "NM_006516.3:c.436G="
      ],
      "proteinEffect": {
        "hgvs": "NP_006507.2:p.Glu146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525408"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063906572",
      "coordinates": [
        {
          "allele": "G",
          "end": 653,
          "referenceAllele": "G",
          "start": 652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "NM_006516.4:c.436G="
      ],
      "proteinEffect": {
        "hgvs": "NP_006507.2:p.Glu146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727748",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000426263.10:c.436G="
          },
          "RefSeq": {
            "hgvs": "NM_006516.4:c.436G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000416293.2:p.Glu146="
          },
          "RefSeq": {
            "hgvs": "NP_006507.2:p.Glu146="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}