{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA019162",
  "communityStandardTitle": [
    "NM_006516.4(SLC2A1):c.376C>T (p.Arg126Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=31157[alleleid]",
        "alleleId": 31157,
        "preferredName": "NM_006516.4(SLC2A1):c.376C>T (p.Arg126Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/16118",
        "RCV": [
          "RCV000017498",
          "RCV000030838",
          "RCV000030839",
          "RCV000081431",
          "RCV000546969",
          "RCV000824987"
        ],
        "variationId": 16118
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.43396437G>A?assembly=hg19",
        "id": "chr1:g.43396437G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.42930766G>A?assembly=hg38",
        "id": "chr1:g.42930766G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80359818",
        "rs": 80359818
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-43396437-G-A?dataset=gnomad_r2_1",
        "id": "1-43396437-G-A",
        "variant": "1:43396437 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-42930766-G-A?dataset=gnomad_r4",
        "id": "1-42930766-G-A",
        "variant": "1:42930766 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 42930766,
          "referenceAllele": "G",
          "start": 42930765
        }
      ],
      "hgvs": [
        "NC_000001.11:g.42930766G>A",
        "CM000663.2:g.42930766G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 43396437,
          "referenceAllele": "G",
          "start": 43396436
        }
      ],
      "hgvs": [
        "NC_000001.10:g.43396437G>A",
        "CM000663.1:g.43396437G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 43169024,
          "referenceAllele": "G",
          "start": 43169023
        }
      ],
      "hgvs": [
        "NC_000001.9:g.43169024G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 33411,
          "referenceAllele": "C",
          "start": 33410
        }
      ],
      "hgvs": [
        "NG_008232.1:g.33411C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000964"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 593,
          "referenceAllele": "C",
          "start": 592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "ENST00000426263.10:c.376C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416293.2:p.Arg126Cys",
        "hgvsWellDefined": "ENSP00000416293.2:p.Arg126Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755123",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000426263.10:c.376C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006516.4:c.376C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000416293.2:p.Arg126Cys"
          },
          "RefSeq": {
            "hgvs": "NP_006507.2:p.Arg126Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 584,
          "referenceAllele": "C",
          "start": 583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "ENST00000674765.1:c.376C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501811.1:p.Arg126Cys",
        "hgvsWellDefined": "ENSP00000501811.1:p.Arg126Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774682"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 399,
          "referenceAllele": "C",
          "start": 398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "ENST00000675112.1:n.399C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774978"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 825,
          "referenceAllele": "C",
          "start": 824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "ENST00000676254.1:n.825C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775964"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 465,
          "referenceAllele": "C",
          "start": 464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "ENST00000372500.4:c.280C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361578.4:p.Arg94Cys",
        "hgvsWellDefined": "ENSP00000361578.4:p.Arg94Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269137"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 898,
          "referenceAllele": "C",
          "start": 897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "ENST00000426263.7:c.376C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416293.2:p.Arg126Cys",
        "hgvsWellDefined": "ENSP00000416293.2:p.Arg126Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289140"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 255,
          "referenceAllele": "C",
          "start": 254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "ENST00000439722.2:c.255C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395521.2:n.255C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295571"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 275,
          "referenceAllele": "C",
          "start": 274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "ENST00000475162.3:c.275C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316504"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 584,
          "referenceAllele": "C",
          "start": 583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "ENST00000625233.2:n.584C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS406542"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 573,
          "referenceAllele": "C",
          "start": 572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "ENST00000630287.2:c.376C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486694.1:p.Arg126Cys",
        "hgvsWellDefined": "ENSP00000486694.1:p.Arg126Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407350"
    },
    {
      "@id": "http://reg.genome.network/allele/PA109933",
      "coordinates": [
        {
          "allele": "T",
          "end": 901,
          "referenceAllele": "C",
          "start": 900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "NM_006516.2:c.376C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006507.2:p.Arg126Cys",
        "hgvsWellDefined": "NP_006507.2:p.Arg126Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031524"
    },
    {
      "@id": "http://reg.genome.network/allele/PA109933",
      "coordinates": [
        {
          "allele": "T",
          "end": 593,
          "referenceAllele": "C",
          "start": 592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "NM_006516.3:c.376C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006507.2:p.Arg126Cys",
        "hgvsWellDefined": "NP_006507.2:p.Arg126Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525408"
    },
    {
      "@id": "http://reg.genome.network/allele/PA109933",
      "coordinates": [
        {
          "allele": "T",
          "end": 593,
          "referenceAllele": "C",
          "start": 592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011005",
      "geneNCBI_id": 6513,
      "geneSymbol": "SLC2A1",
      "hgvs": [
        "NM_006516.4:c.376C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006507.2:p.Arg126Cys",
        "hgvsWellDefined": "NP_006507.2:p.Arg126Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727748",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000426263.10:c.376C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006516.4:c.376C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000416293.2:p.Arg126Cys"
          },
          "RefSeq": {
            "hgvs": "NP_006507.2:p.Arg126Cys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}