{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA129561",
  "communityStandardTitle": [
    "NM_018344.6(SLC29A3):c.1088G>A (p.Arg363Gln)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=39905[alleleid]",
        "alleleId": 39905,
        "preferredName": "NM_018344.6(SLC29A3):c.1088G>A (p.Arg363Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/30948",
        "RCV": [
          "RCV000023938"
        ],
        "variationId": 30948
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/10-73122025-G-A",
        "id": "10-73122025-G-A",
        "variant": "10:73122025 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.73122025G>A?assembly=hg19",
        "id": "chr10:g.73122025G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.71362268G>A?assembly=hg38",
        "id": "chr10:g.71362268G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/387907066",
        "rs": 387907066
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-73122025-G-A?dataset=gnomad_r2_1",
        "id": "10-73122025-G-A",
        "variant": "10:73122025 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-71362268-G-A?dataset=gnomad_r4",
        "id": "10-71362268-G-A",
        "variant": "10:71362268 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 71362268,
          "referenceAllele": "G",
          "start": 71362267
        }
      ],
      "hgvs": [
        "NC_000010.11:g.71362268G>A",
        "CM000672.2:g.71362268G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 73122025,
          "referenceAllele": "G",
          "start": 73122024
        }
      ],
      "hgvs": [
        "NC_000010.10:g.73122025G>A",
        "CM000672.1:g.73122025G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 72792031,
          "referenceAllele": "G",
          "start": 72792030
        }
      ],
      "hgvs": [
        "NC_000010.9:g.72792031G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 48016,
          "referenceAllele": "G",
          "start": 48015
        }
      ],
      "hgvs": [
        "NG_017066.1:g.48016G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003402"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 48010,
          "referenceAllele": "G",
          "start": 48009
        }
      ],
      "hgvs": [
        "NG_017066.2:g.48010G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673697"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2564,
          "referenceAllele": "G",
          "start": 2563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023096",
      "geneNCBI_id": 55315,
      "geneSymbol": "SLC29A3",
      "hgvs": [
        "ENST00000697843.1:n.2564G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909018"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1139,
          "referenceAllele": "G",
          "start": 1138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023096",
      "geneNCBI_id": 55315,
      "geneSymbol": "SLC29A3",
      "hgvs": [
        "ENST00000373189.6:c.1088G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362285.5:p.Arg363Gln",
        "hgvsWellDefined": "ENSP00000362285.5:p.Arg363Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751173",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373189.6:c.1088G>A"
          },
          "RefSeq": {
            "hgvs": "NM_018344.6:c.1088G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362285.5:p.Arg363Gln"
          },
          "RefSeq": {
            "hgvs": "NP_060814.4:p.Arg363Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1537,
          "referenceAllele": "G",
          "start": 1536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023096",
      "geneNCBI_id": 55315,
      "geneSymbol": "SLC29A3",
      "hgvs": [
        "ENST00000479577.2:c.854G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493995.1:p.Arg285Gln",
        "hgvsWellDefined": "ENSP00000493995.1:p.Arg285Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757309"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1633,
          "referenceAllele": "G",
          "start": 1632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023096",
      "geneNCBI_id": 55315,
      "geneSymbol": "SLC29A3",
      "hgvs": [
        "ENST00000642198.1:c.*660G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494827.1:n.*660G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766610"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 491,
          "endIntronDirection": "+",
          "endIntronOffset": 6025,
          "referenceAllele": "G",
          "start": 491,
          "startIntronDirection": "+",
          "startIntronOffset": 6024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023096",
      "geneNCBI_id": 55315,
      "geneSymbol": "SLC29A3",
      "hgvs": [
        "ENST00000642772.1:c.*94+6025G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495041.1:n.*94+6025G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766920"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 709,
          "referenceAllele": "G",
          "start": 708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023096",
      "geneNCBI_id": 55315,
      "geneSymbol": "SLC29A3",
      "hgvs": [
        "ENST00000643042.1:c.709G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496674.1:n.709G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767057"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1405,
          "referenceAllele": "G",
          "start": 1404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023096",
      "geneNCBI_id": 55315,
      "geneSymbol": "SLC29A3",
      "hgvs": [
        "ENST00000643619.1:c.*671G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494378.1:n.*671G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767379"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 906,
          "referenceAllele": "G",
          "start": 905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023096",
      "geneNCBI_id": 55315,
      "geneSymbol": "SLC29A3",
      "hgvs": [
        "ENST00000643752.1:c.*414G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495000.1:n.*414G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767451"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 805,
          "referenceAllele": "G",
          "start": 804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023096",
      "geneNCBI_id": 55315,
      "geneSymbol": "SLC29A3",
      "hgvs": [
        "ENST00000644088.1:c.*409G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494066.1:n.*409G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767626"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1053,
          "referenceAllele": "G",
          "start": 1052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023096",
      "geneNCBI_id": 55315,
      "geneSymbol": "SLC29A3",
      "hgvs": [
        "ENST00000644591.1:c.*414G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496664.1:n.*414G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767890"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 721,
          "endIntronDirection": "+",
          "endIntronOffset": 6025,
          "referenceAllele": "G",
          "start": 721,
          "startIntronDirection": "+",
          "startIntronOffset": 6024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023096",
      "geneNCBI_id": 55315,
      "geneSymbol": "SLC29A3",
      "hgvs": [
        "ENST00000644895.1:c.*99+6025G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493872.1:n.*99+6025G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768061"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1282,
          "referenceAllele": "G",
          "start": 1281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023096",
      "geneNCBI_id": 55315,
      "geneSymbol": "SLC29A3",
      "hgvs": [
        "ENST00000645345.1:c.*660G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495859.1:n.*660G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768301"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1368,
          "referenceAllele": "G",
          "start": 1367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023096",
      "geneNCBI_id": 55315,
      "geneSymbol": "SLC29A3",
      "hgvs": [
        "ENST00000647524.1:c.*671G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495077.1:n.*671G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769463"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1140,
          "referenceAllele": "G",
          "start": 1139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023096",
      "geneNCBI_id": 55315,
      "geneSymbol": "SLC29A3",
      "hgvs": [
        "ENST00000373189.5:c.1088G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362285.5:p.Arg363Gln",
        "hgvsWellDefined": "ENSP00000362285.5:p.Arg363Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269550"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 585,
          "referenceAllele": "G",
          "start": 584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023096",
      "geneNCBI_id": 55315,
      "geneSymbol": "SLC29A3",
      "hgvs": [
        "ENST00000469204.1:n.585G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS311944"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1151,
          "referenceAllele": "G",
          "start": 1150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023096",
      "geneNCBI_id": 55315,
      "geneSymbol": "SLC29A3",
      "hgvs": [
        "NM_001174098.1:c.*317G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001167569.1:n.*317G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015670"
    },
    {
      "@id": "http://reg.genome.network/allele/PA103370",
      "coordinates": [
        {
          "allele": "A",
          "end": 1145,
          "referenceAllele": "G",
          "start": 1144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023096",
      "geneNCBI_id": 55315,
      "geneSymbol": "SLC29A3",
      "hgvs": [
        "NM_018344.5:c.1088G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_060814.4:p.Arg363Gln",
        "hgvsWellDefined": "NP_060814.4:p.Arg363Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035662"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1062,
          "referenceAllele": "G",
          "start": 1061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023096",
      "geneNCBI_id": 55315,
      "geneSymbol": "SLC29A3",
      "hgvs": [
        "NR_033413.1:n.1062G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS049019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 835,
          "referenceAllele": "G",
          "start": 834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023096",
      "geneNCBI_id": 55315,
      "geneSymbol": "SLC29A3",
      "hgvs": [
        "NR_033414.1:n.835G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS049020"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1532,
          "referenceAllele": "G",
          "start": 1531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023096",
      "geneNCBI_id": 55315,
      "geneSymbol": "SLC29A3",
      "hgvs": [
        "XM_006717910.2:c.854G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717973.1:p.Arg285Gln",
        "hgvsWellDefined": "XP_006717973.1:p.Arg285Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072377"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828088008",
      "coordinates": [
        {
          "allele": "A",
          "end": 1566,
          "referenceAllele": "G",
          "start": 1565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023096",
      "geneNCBI_id": 55315,
      "geneSymbol": "SLC29A3",
      "hgvs": [
        "NM_001363518.1:c.854G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350447.1:p.Arg285Gln",
        "hgvsWellDefined": "NP_001350447.1:p.Arg285Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523345"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1451,
          "referenceAllele": "G",
          "start": 1450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023096",
      "geneNCBI_id": 55315,
      "geneSymbol": "SLC29A3",
      "hgvs": [
        "XM_017016377.2:c.650G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016871866.1:p.Arg217Gln",
        "hgvsWellDefined": "XP_016871866.1:p.Arg217Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568839"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1224,
          "referenceAllele": "G",
          "start": 1223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023096",
      "geneNCBI_id": 55315,
      "geneSymbol": "SLC29A3",
      "hgvs": [
        "XM_017016378.2:c.470G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016871867.1:p.Arg157Gln",
        "hgvsWellDefined": "XP_016871867.1:p.Arg157Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568840"
    },
    {
      "@id": "http://reg.genome.network/allele/PA103370",
      "coordinates": [
        {
          "allele": "A",
          "end": 1139,
          "referenceAllele": "G",
          "start": 1138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023096",
      "geneNCBI_id": 55315,
      "geneSymbol": "SLC29A3",
      "hgvs": [
        "NM_018344.6:c.1088G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_060814.4:p.Arg363Gln",
        "hgvsWellDefined": "NP_060814.4:p.Arg363Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669624",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373189.6:c.1088G>A"
          },
          "RefSeq": {
            "hgvs": "NM_018344.6:c.1088G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362285.5:p.Arg363Gln"
          },
          "RefSeq": {
            "hgvs": "NP_060814.4:p.Arg363Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1145,
          "referenceAllele": "G",
          "start": 1144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023096",
      "geneNCBI_id": 55315,
      "geneSymbol": "SLC29A3",
      "hgvs": [
        "NM_001174098.2:c.*317G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001167569.1:n.*317G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713500"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828088008",
      "coordinates": [
        {
          "allele": "A",
          "end": 1560,
          "referenceAllele": "G",
          "start": 1559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023096",
      "geneNCBI_id": 55315,
      "geneSymbol": "SLC29A3",
      "hgvs": [
        "NM_001363518.2:c.854G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350447.1:p.Arg285Gln",
        "hgvsWellDefined": "NP_001350447.1:p.Arg285Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720737"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1056,
          "referenceAllele": "G",
          "start": 1055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023096",
      "geneNCBI_id": 55315,
      "geneSymbol": "SLC29A3",
      "hgvs": [
        "NR_033413.2:n.1056G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730291"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 829,
          "referenceAllele": "G",
          "start": 828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023096",
      "geneNCBI_id": 55315,
      "geneSymbol": "SLC29A3",
      "hgvs": [
        "NR_033414.2:n.829G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730292"
    }
  ],
  "type": "nucleotide"
}