{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2030865226",
  "communityStandardTitle": [
    "NM_052885.4(SLC2A13):c.717-2776G="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/11174812",
        "rs": 11174812
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 40031285,
          "referenceAllele": "C",
          "start": 40031284
        }
      ],
      "hgvs": [
        "NC_000012.12:g.40031285C=",
        "CM000674.2:g.40031285C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 40425087,
          "referenceAllele": "C",
          "start": 40425086
        }
      ],
      "hgvs": [
        "NC_000012.11:g.40425087C=",
        "CM000674.1:g.40425087C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 38711354,
          "referenceAllele": "C",
          "start": 38711353
        }
      ],
      "hgvs": [
        "NC_000012.10:g.38711354C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 989,
          "endIntronDirection": "-",
          "endIntronOffset": 2775,
          "referenceAllele": "G",
          "start": 989,
          "startIntronDirection": "-",
          "startIntronOffset": 2776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015956",
      "geneNCBI_id": 114134,
      "geneSymbol": "SLC2A13",
      "hgvs": [
        "ENST00000280871.9:c.717-2776G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000280871.4:n.717-2776G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743581",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000280871.9:c.717-2776G="
          },
          "RefSeq": {
            "hgvs": "NM_052885.4:c.717-2776G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000280871.4:n.717-2776G="
          },
          "RefSeq": {
            "hgvs": "NP_443117.3:n.717-2776G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 767,
          "endIntronDirection": "-",
          "endIntronOffset": 2775,
          "referenceAllele": "G",
          "start": 767,
          "startIntronDirection": "-",
          "startIntronOffset": 2776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015956",
      "geneNCBI_id": 114134,
      "geneSymbol": "SLC2A13",
      "hgvs": [
        "ENST00000280871.8:c.717-2776G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000280871.4:n.717-2776G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252960"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 997,
          "endIntronDirection": "-",
          "endIntronOffset": 2775,
          "referenceAllele": "G",
          "start": 997,
          "startIntronDirection": "-",
          "startIntronOffset": 2776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015956",
      "geneNCBI_id": 114134,
      "geneSymbol": "SLC2A13",
      "hgvs": [
        "ENST00000380858.1:c.717-2776G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370239.1:n.717-2776G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273123"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 767,
          "endIntronDirection": "-",
          "endIntronOffset": 2775,
          "referenceAllele": "G",
          "start": 767,
          "startIntronDirection": "-",
          "startIntronOffset": 2776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015956",
      "geneNCBI_id": 114134,
      "geneSymbol": "SLC2A13",
      "hgvs": [
        "NM_052885.3:c.717-2776G="
      ],
      "proteinEffect": {
        "hgvs": "NP_443117.3:n.717-2776G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039880"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 978,
          "endIntronDirection": "-",
          "endIntronOffset": 2775,
          "referenceAllele": "G",
          "start": 978,
          "startIntronDirection": "-",
          "startIntronOffset": 2776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015956",
      "geneNCBI_id": 114134,
      "geneSymbol": "SLC2A13",
      "hgvs": [
        "XM_011537847.1:c.717-2776G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536149.1:n.717-2776G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104805"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 982,
          "endIntronDirection": "-",
          "endIntronOffset": 2775,
          "referenceAllele": "G",
          "start": 982,
          "startIntronDirection": "-",
          "startIntronOffset": 2776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015956",
      "geneNCBI_id": 114134,
      "geneSymbol": "SLC2A13",
      "hgvs": [
        "XM_011537848.1:c.717-2776G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536150.1:n.717-2776G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104806"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 981,
          "endIntronDirection": "-",
          "endIntronOffset": 2775,
          "referenceAllele": "G",
          "start": 981,
          "startIntronDirection": "-",
          "startIntronOffset": 2776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015956",
      "geneNCBI_id": 114134,
      "geneSymbol": "SLC2A13",
      "hgvs": [
        "XM_011537849.1:c.717-2776G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536151.1:n.717-2776G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104807"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 981,
          "endIntronDirection": "-",
          "endIntronOffset": 2775,
          "referenceAllele": "G",
          "start": 981,
          "startIntronDirection": "-",
          "startIntronOffset": 2776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015956",
      "geneNCBI_id": 114134,
      "geneSymbol": "SLC2A13",
      "hgvs": [
        "XM_011537850.1:c.717-2776G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536152.1:n.717-2776G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104808"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 993,
          "endIntronDirection": "-",
          "endIntronOffset": 2775,
          "referenceAllele": "G",
          "start": 993,
          "startIntronDirection": "-",
          "startIntronOffset": 2776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015956",
      "geneNCBI_id": 114134,
      "geneSymbol": "SLC2A13",
      "hgvs": [
        "XM_011537847.2:c.717-2776G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536149.1:n.717-2776G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553042"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 993,
          "endIntronDirection": "-",
          "endIntronOffset": 2775,
          "referenceAllele": "G",
          "start": 993,
          "startIntronDirection": "-",
          "startIntronOffset": 2776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015956",
      "geneNCBI_id": 114134,
      "geneSymbol": "SLC2A13",
      "hgvs": [
        "XM_011537849.2:c.717-2776G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536151.1:n.717-2776G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553043"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 993,
          "endIntronDirection": "-",
          "endIntronOffset": 2775,
          "referenceAllele": "G",
          "start": 993,
          "startIntronDirection": "-",
          "startIntronOffset": 2776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015956",
      "geneNCBI_id": 114134,
      "geneSymbol": "SLC2A13",
      "hgvs": [
        "XM_011537850.3:c.717-2776G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536152.1:n.717-2776G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553044"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 240,
          "endIntronDirection": "-",
          "endIntronOffset": 2775,
          "referenceAllele": "G",
          "start": 240,
          "startIntronDirection": "-",
          "startIntronOffset": 2776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015956",
      "geneNCBI_id": 114134,
      "geneSymbol": "SLC2A13",
      "hgvs": [
        "XM_017018764.1:c.150-2776G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016874253.1:n.150-2776G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570621"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 878,
          "endIntronDirection": "-",
          "endIntronOffset": 2775,
          "referenceAllele": "G",
          "start": 878,
          "startIntronDirection": "-",
          "startIntronOffset": 2776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015956",
      "geneNCBI_id": 114134,
      "geneSymbol": "SLC2A13",
      "hgvs": [
        "XM_017018765.1:c.150-2776G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016874254.1:n.150-2776G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570622"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 993,
          "endIntronDirection": "-",
          "endIntronOffset": 2775,
          "referenceAllele": "G",
          "start": 993,
          "startIntronDirection": "-",
          "startIntronOffset": 2776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015956",
      "geneNCBI_id": 114134,
      "geneSymbol": "SLC2A13",
      "hgvs": [
        "XR_001748567.2:n.994-2776G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596564"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 993,
          "endIntronDirection": "-",
          "endIntronOffset": 2775,
          "referenceAllele": "G",
          "start": 993,
          "startIntronDirection": "-",
          "startIntronOffset": 2776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015956",
      "geneNCBI_id": 114134,
      "geneSymbol": "SLC2A13",
      "hgvs": [
        "XR_001748568.1:n.994-2776G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596565"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 989,
          "endIntronDirection": "-",
          "endIntronOffset": 2775,
          "referenceAllele": "G",
          "start": 989,
          "startIntronDirection": "-",
          "startIntronOffset": 2776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015956",
      "geneNCBI_id": 114134,
      "geneSymbol": "SLC2A13",
      "hgvs": [
        "NM_052885.4:c.717-2776G="
      ],
      "proteinEffect": {
        "hgvs": "NP_443117.3:n.717-2776G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671628",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000280871.9:c.717-2776G="
          },
          "RefSeq": {
            "hgvs": "NM_052885.4:c.717-2776G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000280871.4:n.717-2776G="
          },
          "RefSeq": {
            "hgvs": "NP_443117.3:n.717-2776G="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}