{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA253661",
  "communityStandardTitle": [
    "NM_006996.3(SLC19A2):c.1074G>A (p.Trp358Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=21002[alleleid]",
        "alleleId": 21002,
        "preferredName": "NM_006996.3(SLC19A2):c.1074G>A (p.Trp358Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5963",
        "RCV": [
          "RCV000006327"
        ],
        "variationId": 5963
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.169438031C>T?assembly=hg19",
        "id": "chr1:g.169438031C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.169468793C>T?assembly=hg38",
        "id": "chr1:g.169468793C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/74315375",
        "rs": 74315375
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 169468793,
          "referenceAllele": "C",
          "start": 169468792
        }
      ],
      "hgvs": [
        "NC_000001.11:g.169468793C>T",
        "CM000663.2:g.169468793C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 169438031,
          "referenceAllele": "C",
          "start": 169438030
        }
      ],
      "hgvs": [
        "NC_000001.10:g.169438031C>T",
        "CM000663.1:g.169438031C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 167704655,
          "referenceAllele": "C",
          "start": 167704654
        }
      ],
      "hgvs": [
        "NC_000001.9:g.167704655C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 22178,
          "referenceAllele": "G",
          "start": 22177
        }
      ],
      "hgvs": [
        "NG_008255.1:g.22178G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000981"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1252,
          "referenceAllele": "G",
          "start": 1251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010938",
      "geneNCBI_id": 10560,
      "geneSymbol": "SLC19A2",
      "hgvs": [
        "ENST00000236137.10:c.1074G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000236137.5:p.Trp358Ter",
        "hgvsWellDefined": "ENSP00000236137.5:p.Trp358_Ser497delinsSerThrTrpGlyGluMetThrLeuSerLeuPheSerLeuLeuIleAlaAlaAlaValTyrIleMetAspThrValGlyAsnIleTrpValCysTyrAlaSerTyrValValPheArgIleIleTyrMetLeuLeuIleThrIleAlaThrPheGlnIleAlaAlaAsnLeuSerMetGluArgTyrAlaLeuValPheGlyValAsnThrPheIleAlaLeuAlaLeuGlnThrLeuLeuThrLeuIleValValAspAlaSerGlyLeuGlyLeuGluIleThrThrGlnPheLeuIleTyrAlaSerTyrPheAlaLeuIleAlaValValPheLeuAlaSerGlyAlaValSerValMetLysLysCysArgLysLeuGluAspProGlnSerSerSerGlnValThrThrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740979",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000236137.10:c.1074G>A"
          },
          "RefSeq": {
            "hgvs": "NM_006996.3:c.1074G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000236137.5:p.Trp358Ter"
          },
          "RefSeq": {
            "hgvs": "NP_008927.1:p.Trp358Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 405,
          "referenceAllele": "G",
          "start": 404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010938",
      "geneNCBI_id": 10560,
      "geneSymbol": "SLC19A2",
      "hgvs": [
        "ENST00000643377.1:n.405G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767250"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1205,
          "endIntronDirection": "-",
          "endIntronOffset": 55,
          "referenceAllele": "G",
          "start": 1205,
          "startIntronDirection": "-",
          "startIntronOffset": 56
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010938",
      "geneNCBI_id": 10560,
      "geneSymbol": "SLC19A2",
      "hgvs": [
        "ENST00000646596.1:c.1031-56G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494404.1:n.1031-56G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768963"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1311,
          "referenceAllele": "G",
          "start": 1310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010938",
      "geneNCBI_id": 10560,
      "geneSymbol": "SLC19A2",
      "hgvs": [
        "ENST00000236137.9:c.1074G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000236137.5:p.Trp358Ter",
        "hgvsWellDefined": "ENSP00000236137.5:p.Trp358_Ser497delinsSerThrTrpGlyGluMetThrLeuSerLeuPheSerLeuLeuIleAlaAlaAlaValTyrIleMetAspThrValGlyAsnIleTrpValCysTyrAlaSerTyrValValPheArgIleIleTyrMetLeuLeuIleThrIleAlaThrPheGlnIleAlaAlaAsnLeuSerMetGluArgTyrAlaLeuValPheGlyValAsnThrPheIleAlaLeuAlaLeuGlnThrLeuLeuThrLeuIleValValAspAlaSerGlyLeuGlyLeuGluIleThrThrGlnPheLeuIleTyrAlaSerTyrPheAlaLeuIleAlaValValPheLeuAlaSerGlyAlaValSerValMetLysLysCysArgLysLeuGluAspProGlnSerSerSerGlnValThrThrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248962"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 636,
          "referenceAllele": "G",
          "start": 635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010938",
      "geneNCBI_id": 10560,
      "geneSymbol": "SLC19A2",
      "hgvs": [
        "ENST00000367804.4:c.471G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356778.3:p.Trp157Ter",
        "hgvsWellDefined": "ENSP00000356778.3:p.Trp157_Ser296delinsSerThrTrpGlyGluMetThrLeuSerLeuPheSerLeuLeuIleAlaAlaAlaValTyrIleMetAspThrValGlyAsnIleTrpValCysTyrAlaSerTyrValValPheArgIleIleTyrMetLeuLeuIleThrIleAlaThrPheGlnIleAlaAlaAsnLeuSerMetGluArgTyrAlaLeuValPheGlyValAsnThrPheIleAlaLeuAlaLeuGlnThrLeuLeuThrLeuIleValValAspAlaSerGlyLeuGlyLeuGluIleThrThrGlnPheLeuIleTyrAlaSerTyrPheAlaLeuIleAlaValValPheLeuAlaSerGlyAlaValSerValMetLysLysCysArgLysLeuGluAspProGlnSerSerSerGlnValThrThrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266585"
    },
    {
      "@id": "http://reg.genome.network/allele/PA253662",
      "coordinates": [
        {
          "allele": "A",
          "end": 1278,
          "referenceAllele": "G",
          "start": 1277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010938",
      "geneNCBI_id": 10560,
      "geneSymbol": "SLC19A2",
      "hgvs": [
        "NM_006996.2:c.1074G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_008927.1:p.Trp358Ter",
        "hgvsWellDefined": "NP_008927.1:p.Trp358_Ser497delinsSerThrTrpGlyGluMetThrLeuSerLeuPheSerLeuLeuIleAlaAlaAlaValTyrIleMetAspThrValGlyAsnIleTrpValCysTyrAlaSerTyrValValPheArgIleIleTyrMetLeuLeuIleThrIleAlaThrPheGlnIleAlaAlaAsnLeuSerMetGluArgTyrAlaLeuValPheGlyValAsnThrPheIleAlaLeuAlaLeuGlnThrLeuLeuThrLeuIleValValAspAlaSerGlyLeuGlyLeuGluIleThrThrGlnPheLeuIleTyrAlaSerTyrPheAlaLeuIleAlaValValPheLeuAlaSerGlyAlaValSerValMetLysLysCysArgLysLeuGluAspProGlnSerSerSerGlnValThrThrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031957"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 897,
          "referenceAllele": "G",
          "start": 896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010938",
      "geneNCBI_id": 10560,
      "geneSymbol": "SLC19A2",
      "hgvs": [
        "XM_011509076.1:c.882G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507378.1:p.Trp294Ter",
        "hgvsWellDefined": "XP_011507378.1:p.Trp294_Ser433delinsSerThrTrpGlyGluMetThrLeuSerLeuPheSerLeuLeuIleAlaAlaAlaValTyrIleMetAspThrValGlyAsnIleTrpValCysTyrAlaSerTyrValValPheArgIleIleTyrMetLeuLeuIleThrIleAlaThrPheGlnIleAlaAlaAsnLeuSerMetGluArgTyrAlaLeuValPheGlyValAsnThrPheIleAlaLeuAlaLeuGlnThrLeuLeuThrLeuIleValValAspAlaSerGlyLeuGlyLeuGluIleThrThrGlnPheLeuIleTyrAlaSerTyrPheAlaLeuIleAlaValValPheLeuAlaSerGlyAlaValSerValMetLysLysCysArgLysLeuGluAspProGlnSerSerSerGlnValThrThrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076346"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 675,
          "referenceAllele": "G",
          "start": 674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010938",
      "geneNCBI_id": 10560,
      "geneSymbol": "SLC19A2",
      "hgvs": [
        "XM_011509077.1:c.471G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507379.1:p.Trp157Ter",
        "hgvsWellDefined": "XP_011507379.1:p.Trp157_Ser296delinsSerThrTrpGlyGluMetThrLeuSerLeuPheSerLeuLeuIleAlaAlaAlaValTyrIleMetAspThrValGlyAsnIleTrpValCysTyrAlaSerTyrValValPheArgIleIleTyrMetLeuLeuIleThrIleAlaThrPheGlnIleAlaAlaAsnLeuSerMetGluArgTyrAlaLeuValPheGlyValAsnThrPheIleAlaLeuAlaLeuGlnThrLeuLeuThrLeuIleValValAspAlaSerGlyLeuGlyLeuGluIleThrThrGlnPheLeuIleTyrAlaSerTyrPheAlaLeuIleAlaValValPheLeuAlaSerGlyAlaValSerValMetLysLysCysArgLysLeuGluAspProGlnSerSerSerGlnValThrThrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076347"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827036891",
      "coordinates": [
        {
          "allele": "A",
          "end": 675,
          "referenceAllele": "G",
          "start": 674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010938",
      "geneNCBI_id": 10560,
      "geneSymbol": "SLC19A2",
      "hgvs": [
        "NM_001319667.1:c.471G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001306596.1:p.Trp157Ter",
        "hgvsWellDefined": "NP_001306596.1:p.Trp157_Ser296delinsSerThrTrpGlyGluMetThrLeuSerLeuPheSerLeuLeuIleAlaAlaAlaValTyrIleMetAspThrValGlyAsnIleTrpValCysTyrAlaSerTyrValValPheArgIleIleTyrMetLeuLeuIleThrIleAlaThrPheGlnIleAlaAlaAsnLeuSerMetGluArgTyrAlaLeuValPheGlyValAsnThrPheIleAlaLeuAlaLeuGlnThrLeuLeuThrLeuIleValValAspAlaSerGlyLeuGlyLeuGluIleThrThrGlnPheLeuIleTyrAlaSerTyrPheAlaLeuIleAlaValValPheLeuAlaSerGlyAlaValSerValMetLysLysCysArgLysLeuGluAspProGlnSerSerSerGlnValThrThrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513371"
    },
    {
      "@id": "http://reg.genome.network/allele/PA253662",
      "coordinates": [
        {
          "allele": "A",
          "end": 1252,
          "referenceAllele": "G",
          "start": 1251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010938",
      "geneNCBI_id": 10560,
      "geneSymbol": "SLC19A2",
      "hgvs": [
        "NM_006996.3:c.1074G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_008927.1:p.Trp358Ter",
        "hgvsWellDefined": "NP_008927.1:p.Trp358_Ser497delinsSerThrTrpGlyGluMetThrLeuSerLeuPheSerLeuLeuIleAlaAlaAlaValTyrIleMetAspThrValGlyAsnIleTrpValCysTyrAlaSerTyrValValPheArgIleIleTyrMetLeuLeuIleThrIleAlaThrPheGlnIleAlaAlaAsnLeuSerMetGluArgTyrAlaLeuValPheGlyValAsnThrPheIleAlaLeuAlaLeuGlnThrLeuLeuThrLeuIleValValAspAlaSerGlyLeuGlyLeuGluIleThrThrGlnPheLeuIleTyrAlaSerTyrPheAlaLeuIleAlaValValPheLeuAlaSerGlyAlaValSerValMetLysLysCysArgLysLeuGluAspProGlnSerSerSerGlnValThrThrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667726",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000236137.10:c.1074G>A"
          },
          "RefSeq": {
            "hgvs": "NM_006996.3:c.1074G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000236137.5:p.Trp358Ter"
          },
          "RefSeq": {
            "hgvs": "NP_008927.1:p.Trp358Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}