{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA019224",
  "communityStandardTitle": [
    "NM_006516.4(SLC2A1):c.588G>A (p.Pro196=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=101313[alleleid]",
        "alleleId": 101313,
        "preferredName": "NM_006516.4(SLC2A1):c.588G>A (p.Pro196=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/95414",
        "RCV": [
          "RCV000081436",
          "RCV000263600",
          "RCV000576717",
          "RCV001540049",
          "RCV003445499",
          "RCV001510466",
          "RCV002311639",
          "RCV003445500",
          "RCV003445498"
        ],
        "variationId": 95414
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-43395635-C-T",
        "id": "1-43395635-C-T",
        "variant": "1:43395635 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.43395635C>T?assembly=hg19",
        "id": "chr1:g.43395635C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.42929964C>T?assembly=hg38",
        "id": "chr1:g.42929964C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2229682",
        "rs": 2229682
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-43395635-C-T?dataset=gnomad_r2_1",
        "id": "1-43395635-C-T",
        "variant": "1:43395635 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-42929964-C-T?dataset=gnomad_r3",
        "id": "1-42929964-C-T",
        "variant": "1:42929964 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-42929964-C-T?dataset=gnomad_r4",
        "id": "1-42929964-C-T",
        "variant": "1:42929964 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 42929964,
          "referenceAllele": "C",
          "start": 42929963
        }
      ],
      "hgvs": [
        "NC_000001.11:g.42929964C>T",
        "CM000663.2:g.42929964C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 43395635,
          "referenceAllele": "C",
          "start": 43395634
        }
      ],
      "hgvs": [
        "NC_000001.10:g.43395635C>T",
        "CM000663.1:g.43395635C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 43168222,
          "referenceAllele": "C",
          "start": 43168221
        }
      ],
      "hgvs": [
        "NC_000001.9:g.43168222C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 34213,
          "referenceAllele": "G",
          "start": 34212
        }
      ],
      "hgvs": [
        "NG_008232.1:g.34213G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000964"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 805,
          "referenceAllele": "G",
          "start": 804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "ENST00000426263.10:c.588G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416293.2:p.Pro196="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755123",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000426263.10:c.588G>A"
          },
          "RefSeq": {
            "hgvs": "NM_006516.4:c.588G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000416293.2:p.Pro196="
          },
          "RefSeq": {
            "hgvs": "NP_006507.2:p.Pro196="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 796,
          "referenceAllele": "G",
          "start": 795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "ENST00000674765.1:c.588G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501811.1:p.Pro196="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774682"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 611,
          "referenceAllele": "G",
          "start": 610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "ENST00000675112.1:n.611G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774978"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1037,
          "referenceAllele": "G",
          "start": 1036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "ENST00000676254.1:n.1037G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775964"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1110,
          "referenceAllele": "G",
          "start": 1109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "ENST00000426263.7:c.588G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416293.2:p.Pro196="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289140"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 467,
          "referenceAllele": "G",
          "start": 466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "ENST00000439722.2:c.467G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395521.2:n.467G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295571"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 415,
          "endIntronDirection": "+",
          "endIntronOffset": 662,
          "referenceAllele": "G",
          "start": 415,
          "startIntronDirection": "+",
          "startIntronOffset": 661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "ENST00000475162.3:c.415+662G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316504"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 713,
          "endIntronDirection": "-",
          "endIntronOffset": 183,
          "referenceAllele": "G",
          "start": 713,
          "startIntronDirection": "-",
          "startIntronOffset": 184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "ENST00000630287.2:c.517-184G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486694.1:n.517-184G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407350"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829669367",
      "coordinates": [
        {
          "allele": "A",
          "end": 1113,
          "referenceAllele": "G",
          "start": 1112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "NM_006516.2:c.588G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_006507.2:p.Pro196="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031524"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829669367",
      "coordinates": [
        {
          "allele": "A",
          "end": 805,
          "referenceAllele": "G",
          "start": 804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "NM_006516.3:c.588G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_006507.2:p.Pro196="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525408"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829669367",
      "coordinates": [
        {
          "allele": "A",
          "end": 805,
          "referenceAllele": "G",
          "start": 804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "NM_006516.4:c.588G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_006507.2:p.Pro196="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727748",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000426263.10:c.588G>A"
          },
          "RefSeq": {
            "hgvs": "NM_006516.4:c.588G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000416293.2:p.Pro196="
          },
          "RefSeq": {
            "hgvs": "NP_006507.2:p.Pro196="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}