{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA155234",
  "communityStandardTitle": [
    "NM_018344.6(SLC29A3):c.1008T>C (p.Gly336=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=135784[alleleid]",
        "alleleId": 135784,
        "preferredName": "NM_018344.6(SLC29A3):c.1008T>C (p.Gly336=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/130337",
        "RCV": [
          "RCV000118375",
          "RCV000318573",
          "RCV001610422"
        ],
        "variationId": 130337
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/10-73121945-T-C",
        "id": "10-73121945-T-C",
        "variant": "10:73121945 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.73121945T>C?assembly=hg19",
        "id": "chr10:g.73121945T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.71362188T>C?assembly=hg38",
        "id": "chr10:g.71362188T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1084004",
        "rs": 1084004
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-73121945-T-C?dataset=gnomad_r2_1",
        "id": "10-73121945-T-C",
        "variant": "10:73121945 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-71362188-T-C?dataset=gnomad_r3",
        "id": "10-71362188-T-C",
        "variant": "10:71362188 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-71362188-T-C?dataset=gnomad_r4",
        "id": "10-71362188-T-C",
        "variant": "10:71362188 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 71362188,
          "referenceAllele": "T",
          "start": 71362187
        }
      ],
      "hgvs": [
        "NC_000010.11:g.71362188T>C",
        "CM000672.2:g.71362188T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 73121945,
          "referenceAllele": "T",
          "start": 73121944
        }
      ],
      "hgvs": [
        "NC_000010.10:g.73121945T>C",
        "CM000672.1:g.73121945T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 72791951,
          "referenceAllele": "T",
          "start": 72791950
        }
      ],
      "hgvs": [
        "NC_000010.9:g.72791951T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 47936,
          "referenceAllele": "T",
          "start": 47935
        }
      ],
      "hgvs": [
        "NG_017066.1:g.47936T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003402"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 47930,
          "referenceAllele": "T",
          "start": 47929
        }
      ],
      "hgvs": [
        "NG_017066.2:g.47930T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673697"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2484,
          "referenceAllele": "T",
          "start": 2483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023096",
      "geneNCBI_id": 55315,
      "geneSymbol": "SLC29A3",
      "hgvs": [
        "ENST00000697843.1:n.2484T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909018"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1059,
          "referenceAllele": "T",
          "start": 1058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023096",
      "geneNCBI_id": 55315,
      "geneSymbol": "SLC29A3",
      "hgvs": [
        "ENST00000373189.6:c.1008T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362285.5:p.Gly336="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751173",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373189.6:c.1008T>C"
          },
          "RefSeq": {
            "hgvs": "NM_018344.6:c.1008T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362285.5:p.Gly336="
          },
          "RefSeq": {
            "hgvs": "NP_060814.4:p.Gly336="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1457,
          "referenceAllele": "T",
          "start": 1456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023096",
      "geneNCBI_id": 55315,
      "geneSymbol": "SLC29A3",
      "hgvs": [
        "ENST00000479577.2:c.774T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493995.1:p.Gly258="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757309"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1553,
          "referenceAllele": "T",
          "start": 1552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023096",
      "geneNCBI_id": 55315,
      "geneSymbol": "SLC29A3",
      "hgvs": [
        "ENST00000642198.1:c.*580T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494827.1:n.*580T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766610"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 491,
          "endIntronDirection": "+",
          "endIntronOffset": 5945,
          "referenceAllele": "T",
          "start": 491,
          "startIntronDirection": "+",
          "startIntronOffset": 5944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023096",
      "geneNCBI_id": 55315,
      "geneSymbol": "SLC29A3",
      "hgvs": [
        "ENST00000642772.1:c.*94+5945T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495041.1:n.*94+5945T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766920"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 629,
          "referenceAllele": "T",
          "start": 628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023096",
      "geneNCBI_id": 55315,
      "geneSymbol": "SLC29A3",
      "hgvs": [
        "ENST00000643042.1:c.629T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496674.1:n.629T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767057"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1325,
          "referenceAllele": "T",
          "start": 1324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023096",
      "geneNCBI_id": 55315,
      "geneSymbol": "SLC29A3",
      "hgvs": [
        "ENST00000643619.1:c.*591T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494378.1:n.*591T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767379"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 826,
          "referenceAllele": "T",
          "start": 825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023096",
      "geneNCBI_id": 55315,
      "geneSymbol": "SLC29A3",
      "hgvs": [
        "ENST00000643752.1:c.*334T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495000.1:n.*334T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767451"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 725,
          "referenceAllele": "T",
          "start": 724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023096",
      "geneNCBI_id": 55315,
      "geneSymbol": "SLC29A3",
      "hgvs": [
        "ENST00000644088.1:c.*329T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494066.1:n.*329T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767626"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 973,
          "referenceAllele": "T",
          "start": 972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023096",
      "geneNCBI_id": 55315,
      "geneSymbol": "SLC29A3",
      "hgvs": [
        "ENST00000644591.1:c.*334T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496664.1:n.*334T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767890"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 721,
          "endIntronDirection": "+",
          "endIntronOffset": 5945,
          "referenceAllele": "T",
          "start": 721,
          "startIntronDirection": "+",
          "startIntronOffset": 5944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023096",
      "geneNCBI_id": 55315,
      "geneSymbol": "SLC29A3",
      "hgvs": [
        "ENST00000644895.1:c.*99+5945T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493872.1:n.*99+5945T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768061"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1202,
          "referenceAllele": "T",
          "start": 1201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023096",
      "geneNCBI_id": 55315,
      "geneSymbol": "SLC29A3",
      "hgvs": [
        "ENST00000645345.1:c.*580T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495859.1:n.*580T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768301"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1288,
          "referenceAllele": "T",
          "start": 1287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023096",
      "geneNCBI_id": 55315,
      "geneSymbol": "SLC29A3",
      "hgvs": [
        "ENST00000647524.1:c.*591T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495077.1:n.*591T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769463"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1060,
          "referenceAllele": "T",
          "start": 1059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023096",
      "geneNCBI_id": 55315,
      "geneSymbol": "SLC29A3",
      "hgvs": [
        "ENST00000373189.5:c.1008T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362285.5:p.Gly336="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269550"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 505,
          "referenceAllele": "T",
          "start": 504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023096",
      "geneNCBI_id": 55315,
      "geneSymbol": "SLC29A3",
      "hgvs": [
        "ENST00000469204.1:n.505T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS311944"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1071,
          "referenceAllele": "T",
          "start": 1070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023096",
      "geneNCBI_id": 55315,
      "geneSymbol": "SLC29A3",
      "hgvs": [
        "NM_001174098.1:c.*237T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001167569.1:n.*237T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015670"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829897849",
      "coordinates": [
        {
          "allele": "C",
          "end": 1065,
          "referenceAllele": "T",
          "start": 1064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023096",
      "geneNCBI_id": 55315,
      "geneSymbol": "SLC29A3",
      "hgvs": [
        "NM_018344.5:c.1008T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_060814.4:p.Gly336="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035662"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 982,
          "referenceAllele": "T",
          "start": 981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023096",
      "geneNCBI_id": 55315,
      "geneSymbol": "SLC29A3",
      "hgvs": [
        "NR_033413.1:n.982T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS049019"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 755,
          "referenceAllele": "T",
          "start": 754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023096",
      "geneNCBI_id": 55315,
      "geneSymbol": "SLC29A3",
      "hgvs": [
        "NR_033414.1:n.755T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS049020"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1452,
          "referenceAllele": "T",
          "start": 1451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023096",
      "geneNCBI_id": 55315,
      "geneSymbol": "SLC29A3",
      "hgvs": [
        "XM_006717910.2:c.774T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717973.1:p.Gly258="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072377"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828087995",
      "coordinates": [
        {
          "allele": "C",
          "end": 1486,
          "referenceAllele": "T",
          "start": 1485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023096",
      "geneNCBI_id": 55315,
      "geneSymbol": "SLC29A3",
      "hgvs": [
        "NM_001363518.1:c.774T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350447.1:p.Gly258="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523345"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1371,
          "referenceAllele": "T",
          "start": 1370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023096",
      "geneNCBI_id": 55315,
      "geneSymbol": "SLC29A3",
      "hgvs": [
        "XM_017016377.2:c.570T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016871866.1:p.Gly190="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568839"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1144,
          "referenceAllele": "T",
          "start": 1143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023096",
      "geneNCBI_id": 55315,
      "geneSymbol": "SLC29A3",
      "hgvs": [
        "XM_017016378.2:c.390T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016871867.1:p.Gly130="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568840"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829897849",
      "coordinates": [
        {
          "allele": "C",
          "end": 1059,
          "referenceAllele": "T",
          "start": 1058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023096",
      "geneNCBI_id": 55315,
      "geneSymbol": "SLC29A3",
      "hgvs": [
        "NM_018344.6:c.1008T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_060814.4:p.Gly336="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669624",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373189.6:c.1008T>C"
          },
          "RefSeq": {
            "hgvs": "NM_018344.6:c.1008T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362285.5:p.Gly336="
          },
          "RefSeq": {
            "hgvs": "NP_060814.4:p.Gly336="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1065,
          "referenceAllele": "T",
          "start": 1064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023096",
      "geneNCBI_id": 55315,
      "geneSymbol": "SLC29A3",
      "hgvs": [
        "NM_001174098.2:c.*237T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001167569.1:n.*237T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713500"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828087995",
      "coordinates": [
        {
          "allele": "C",
          "end": 1480,
          "referenceAllele": "T",
          "start": 1479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023096",
      "geneNCBI_id": 55315,
      "geneSymbol": "SLC29A3",
      "hgvs": [
        "NM_001363518.2:c.774T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350447.1:p.Gly258="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720737"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 976,
          "referenceAllele": "T",
          "start": 975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023096",
      "geneNCBI_id": 55315,
      "geneSymbol": "SLC29A3",
      "hgvs": [
        "NR_033413.2:n.976T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730291"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 749,
          "referenceAllele": "T",
          "start": 748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023096",
      "geneNCBI_id": 55315,
      "geneSymbol": "SLC29A3",
      "hgvs": [
        "NR_033414.2:n.749T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730292"
    }
  ],
  "type": "nucleotide"
}