{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA325128",
  "communityStandardTitle": [
    "NM_030777.4(SLC2A10):c.1057C>G (p.Leu353Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=210372[alleleid]",
        "alleleId": 210372,
        "preferredName": "NM_030777.4(SLC2A10):c.1057C>G (p.Leu353Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/213722",
        "RCV": [
          "RCV000200540",
          "RCV000700242",
          "RCV002408873"
        ],
        "variationId": 213722
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/20-45354732-C-G",
        "id": "20-45354732-C-G",
        "variant": "20:45354732 C / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.45354732C>G?assembly=hg19",
        "id": "chr20:g.45354732C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.46726093C>G?assembly=hg38",
        "id": "chr20:g.46726093C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/200196034",
        "rs": 200196034
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-45354732-C-G?dataset=gnomad_r2_1",
        "id": "20-45354732-C-G",
        "variant": "20:45354732 C / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-46726093-C-G?dataset=gnomad_r3",
        "id": "20-46726093-C-G",
        "variant": "20:46726093 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-46726093-C-G?dataset=gnomad_r4",
        "id": "20-46726093-C-G",
        "variant": "20:46726093 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "G",
          "end": 46726093,
          "referenceAllele": "C",
          "start": 46726092
        }
      ],
      "hgvs": [
        "NC_000020.11:g.46726093C>G",
        "CM000682.2:g.46726093C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "G",
          "end": 45354732,
          "referenceAllele": "C",
          "start": 45354731
        }
      ],
      "hgvs": [
        "NC_000020.10:g.45354732C>G",
        "CM000682.1:g.45354732C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "G",
          "end": 44788139,
          "referenceAllele": "C",
          "start": 44788138
        }
      ],
      "hgvs": [
        "NC_000020.9:g.44788139C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 21454,
          "referenceAllele": "C",
          "start": 21453
        }
      ],
      "hgvs": [
        "NG_016284.1:g.21454C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003075"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1145,
          "referenceAllele": "C",
          "start": 1144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013444",
      "geneNCBI_id": 81031,
      "geneSymbol": "SLC2A10",
      "hgvs": [
        "ENST00000359271.4:c.1057C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352216.2:p.Leu353Val",
        "hgvsWellDefined": "ENSP00000352216.2:p.Leu353Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749176",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000359271.4:c.1057C>G"
          },
          "RefSeq": {
            "hgvs": "NM_030777.4:c.1057C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000352216.2:p.Leu353Val"
          },
          "RefSeq": {
            "hgvs": "NP_110404.1:p.Leu353Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1307,
          "referenceAllele": "C",
          "start": 1306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013444",
      "geneNCBI_id": 81031,
      "geneSymbol": "SLC2A10",
      "hgvs": [
        "ENST00000359271.3:c.1057C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352216.2:p.Leu353Val",
        "hgvsWellDefined": "ENSP00000352216.2:p.Leu353Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264736"
    },
    {
      "@id": "http://reg.genome.network/allele/PA325129",
      "coordinates": [
        {
          "allele": "G",
          "end": 1154,
          "referenceAllele": "C",
          "start": 1153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013444",
      "geneNCBI_id": 81031,
      "geneSymbol": "SLC2A10",
      "hgvs": [
        "NM_030777.3:c.1057C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_110404.1:p.Leu353Val",
        "hgvsWellDefined": "NP_110404.1:p.Leu353Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038413"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1250,
          "referenceAllele": "C",
          "start": 1249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013444",
      "geneNCBI_id": 81031,
      "geneSymbol": "SLC2A10",
      "hgvs": [
        "XM_011529060.1:c.1120C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527362.1:p.Leu374Val",
        "hgvsWellDefined": "XP_011527362.1:p.Leu374Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096130"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1293,
          "referenceAllele": "C",
          "start": 1292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013444",
      "geneNCBI_id": 81031,
      "geneSymbol": "SLC2A10",
      "hgvs": [
        "XM_011529061.1:c.1066C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527363.1:p.Leu356Val",
        "hgvsWellDefined": "XP_011527363.1:p.Leu356Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096131"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1259,
          "referenceAllele": "C",
          "start": 1258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013444",
      "geneNCBI_id": 81031,
      "geneSymbol": "SLC2A10",
      "hgvs": [
        "XM_011529062.1:c.1120C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527364.1:p.Leu374Val",
        "hgvsWellDefined": "XP_011527364.1:p.Leu374Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096132"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1259,
          "referenceAllele": "C",
          "start": 1258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013444",
      "geneNCBI_id": 81031,
      "geneSymbol": "SLC2A10",
      "hgvs": [
        "XM_011529063.1:c.1120C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527365.1:p.Leu374Val",
        "hgvsWellDefined": "XP_011527365.1:p.Leu374Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096133"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1260,
          "referenceAllele": "C",
          "start": 1259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013444",
      "geneNCBI_id": 81031,
      "geneSymbol": "SLC2A10",
      "hgvs": [
        "XM_011529064.1:c.1120C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527366.1:p.Leu374Val",
        "hgvsWellDefined": "XP_011527366.1:p.Leu374Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096134"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1257,
          "referenceAllele": "C",
          "start": 1256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013444",
      "geneNCBI_id": 81031,
      "geneSymbol": "SLC2A10",
      "hgvs": [
        "XM_011529065.1:c.1120C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527367.1:p.Leu374Val",
        "hgvsWellDefined": "XP_011527367.1:p.Leu374Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096135"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1256,
          "referenceAllele": "C",
          "start": 1255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013444",
      "geneNCBI_id": 81031,
      "geneSymbol": "SLC2A10",
      "hgvs": [
        "XR_936641.1:n.1256C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS131777"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1237,
          "referenceAllele": "C",
          "start": 1236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013444",
      "geneNCBI_id": 81031,
      "geneSymbol": "SLC2A10",
      "hgvs": [
        "XM_011529060.2:c.1120C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527362.1:p.Leu374Val",
        "hgvsWellDefined": "XP_011527362.1:p.Leu374Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549355"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2794,
          "referenceAllele": "C",
          "start": 2793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013444",
      "geneNCBI_id": 81031,
      "geneSymbol": "SLC2A10",
      "hgvs": [
        "XM_011529061.2:c.1066C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527363.1:p.Leu356Val",
        "hgvsWellDefined": "XP_011527363.1:p.Leu356Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549356"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1248,
          "referenceAllele": "C",
          "start": 1247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013444",
      "geneNCBI_id": 81031,
      "geneSymbol": "SLC2A10",
      "hgvs": [
        "XM_011529062.2:c.1120C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527364.1:p.Leu374Val",
        "hgvsWellDefined": "XP_011527364.1:p.Leu374Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549357"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1247,
          "referenceAllele": "C",
          "start": 1246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013444",
      "geneNCBI_id": 81031,
      "geneSymbol": "SLC2A10",
      "hgvs": [
        "XM_011529063.2:c.1120C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527365.1:p.Leu374Val",
        "hgvsWellDefined": "XP_011527365.1:p.Leu374Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549358"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1249,
          "referenceAllele": "C",
          "start": 1248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013444",
      "geneNCBI_id": 81031,
      "geneSymbol": "SLC2A10",
      "hgvs": [
        "XM_011529064.2:c.1120C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527366.1:p.Leu374Val",
        "hgvsWellDefined": "XP_011527366.1:p.Leu374Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549359"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1244,
          "referenceAllele": "C",
          "start": 1243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013444",
      "geneNCBI_id": 81031,
      "geneSymbol": "SLC2A10",
      "hgvs": [
        "XM_011529065.2:c.1120C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527367.1:p.Leu374Val",
        "hgvsWellDefined": "XP_011527367.1:p.Leu374Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549360"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1154,
          "referenceAllele": "C",
          "start": 1153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013444",
      "geneNCBI_id": 81031,
      "geneSymbol": "SLC2A10",
      "hgvs": [
        "XM_017028087.2:c.1057C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883576.1:p.Leu353Val",
        "hgvsWellDefined": "XP_016883576.1:p.Leu353Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577915"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1243,
          "referenceAllele": "C",
          "start": 1242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013444",
      "geneNCBI_id": 81031,
      "geneSymbol": "SLC2A10",
      "hgvs": [
        "XR_936641.2:n.1243C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS611370"
    },
    {
      "@id": "http://reg.genome.network/allele/PA325129",
      "coordinates": [
        {
          "allele": "G",
          "end": 1145,
          "referenceAllele": "C",
          "start": 1144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013444",
      "geneNCBI_id": 81031,
      "geneSymbol": "SLC2A10",
      "hgvs": [
        "NM_030777.4:c.1057C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_110404.1:p.Leu353Val",
        "hgvsWellDefined": "NP_110404.1:p.Leu353Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671005",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000359271.4:c.1057C>G"
          },
          "RefSeq": {
            "hgvs": "NM_030777.4:c.1057C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000352216.2:p.Leu353Val"
          },
          "RefSeq": {
            "hgvs": "NP_110404.1:p.Leu353Val"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}