{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA258148",
  "communityStandardTitle": [
    "NM_000485.3(APRT):c.329T>C (p.Leu110Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=33339[alleleid]",
        "alleleId": 33339,
        "preferredName": "NM_000485.3(APRT):c.329T>C (p.Leu110Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/18300",
        "RCV": [
          "RCV000019962"
        ],
        "variationId": 18300
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-88876549-A-G",
        "id": "16-88876549-A-G",
        "variant": "16:88876549 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.88876549A>G?assembly=hg19",
        "id": "chr16:g.88876549A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.88810141A>G?assembly=hg38",
        "id": "chr16:g.88810141A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894508",
        "rs": 104894508
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-88876549-A-G?dataset=gnomad_r2_1",
        "id": "16-88876549-A-G",
        "variant": "16:88876549 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-88810141-A-G?dataset=gnomad_r3",
        "id": "16-88810141-A-G",
        "variant": "16:88810141 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-88810141-A-G?dataset=gnomad_r4",
        "id": "16-88810141-A-G",
        "variant": "16:88810141 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 88810141,
          "referenceAllele": "A",
          "start": 88810140
        }
      ],
      "hgvs": [
        "NC_000016.10:g.88810141A>G",
        "CM000678.2:g.88810141A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 88876549,
          "referenceAllele": "A",
          "start": 88876548
        }
      ],
      "hgvs": [
        "NC_000016.9:g.88876549A>G",
        "CM000678.1:g.88876549A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 87404050,
          "referenceAllele": "A",
          "start": 87404049
        }
      ],
      "hgvs": [
        "NC_000016.8:g.87404050A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6794,
          "referenceAllele": "T",
          "start": 6793
        }
      ],
      "hgvs": [
        "NG_008013.1:g.6794T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000773"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11364,
          "referenceAllele": "A",
          "start": 11363
        }
      ],
      "hgvs": [
        "NG_028266.1:g.11364A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004160"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 358,
          "referenceAllele": "T",
          "start": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000626",
      "geneNCBI_id": 353,
      "geneSymbol": "APRT",
      "hgvs": [
        "ENST00000378364.8:c.329T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367615.3:p.Leu110Pro",
        "hgvsWellDefined": "ENSP00000367615.3:p.Leu110Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752072",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378364.8:c.329T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000485.3:c.329T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367615.3:p.Leu110Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000476.1:p.Leu110Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 374,
          "referenceAllele": "T",
          "start": 373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000626",
      "geneNCBI_id": 353,
      "geneSymbol": "APRT",
      "hgvs": [
        "ENST00000378364.7:c.329T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367615.3:p.Leu110Pro",
        "hgvsWellDefined": "ENSP00000367615.3:p.Leu110Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271999"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 355,
          "referenceAllele": "T",
          "start": 354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000626",
      "geneNCBI_id": 353,
      "geneSymbol": "APRT",
      "hgvs": [
        "ENST00000426324.6:c.329T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397007.2:p.Leu110Pro",
        "hgvsWellDefined": "ENSP00000397007.2:p.Leu110Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289167"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 339,
          "referenceAllele": "T",
          "start": 338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000626",
      "geneNCBI_id": 353,
      "geneSymbol": "APRT",
      "hgvs": [
        "ENST00000562464.1:n.339T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS376813"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 269,
          "referenceAllele": "T",
          "start": 268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000626",
      "geneNCBI_id": 353,
      "geneSymbol": "APRT",
      "hgvs": [
        "ENST00000563655.5:c.248T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456012.1:p.Leu83Pro",
        "hgvsWellDefined": "ENSP00000456012.1:p.Leu83Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS377567"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 128,
          "referenceAllele": "T",
          "start": 127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000626",
      "geneNCBI_id": 353,
      "geneSymbol": "APRT",
      "hgvs": [
        "ENST00000567057.5:n.128T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS379867"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 224,
          "referenceAllele": "T",
          "start": 223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000626",
      "geneNCBI_id": 353,
      "geneSymbol": "APRT",
      "hgvs": [
        "ENST00000567391.5:c.*3T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457964.1:n.*3T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380081"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 345,
          "endIntronDirection": "+",
          "endIntronOffset": 282,
          "referenceAllele": "T",
          "start": 345,
          "startIntronDirection": "+",
          "startIntronOffset": 281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000626",
      "geneNCBI_id": 353,
      "geneSymbol": "APRT",
      "hgvs": [
        "ENST00000567713.5:c.321+282T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455749.1:n.321+282T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380303"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 233,
          "referenceAllele": "T",
          "start": 232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000626",
      "geneNCBI_id": 353,
      "geneSymbol": "APRT",
      "hgvs": [
        "ENST00000568319.5:c.*3T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456905.1:n.*3T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380698"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 258,
          "referenceAllele": "T",
          "start": 257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000626",
      "geneNCBI_id": 353,
      "geneSymbol": "APRT",
      "hgvs": [
        "ENST00000568575.1:n.258T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS380881"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 327,
          "referenceAllele": "T",
          "start": 326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000626",
      "geneNCBI_id": 353,
      "geneSymbol": "APRT",
      "hgvs": [
        "ENST00000569616.1:c.327T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS381593"
    },
    {
      "@id": "http://reg.genome.network/allele/PA113669",
      "coordinates": [
        {
          "allele": "C",
          "end": 364,
          "referenceAllele": "T",
          "start": 363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000626",
      "geneNCBI_id": 353,
      "geneSymbol": "APRT",
      "hgvs": [
        "NM_000485.2:c.329T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000476.1:p.Leu110Pro",
        "hgvsWellDefined": "NP_000476.1:p.Leu110Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006539"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915957440",
      "coordinates": [
        {
          "allele": "C",
          "end": 364,
          "referenceAllele": "T",
          "start": 363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000626",
      "geneNCBI_id": 353,
      "geneSymbol": "APRT",
      "hgvs": [
        "NM_001030018.1:c.329T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001025189.1:p.Leu110Pro",
        "hgvsWellDefined": "NP_001025189.1:p.Leu110Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008958"
    },
    {
      "@id": "http://reg.genome.network/allele/PA113669",
      "coordinates": [
        {
          "allele": "C",
          "end": 358,
          "referenceAllele": "T",
          "start": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000626",
      "geneNCBI_id": 353,
      "geneSymbol": "APRT",
      "hgvs": [
        "NM_000485.3:c.329T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000476.1:p.Leu110Pro",
        "hgvsWellDefined": "NP_000476.1:p.Leu110Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674864",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378364.8:c.329T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000485.3:c.329T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367615.3:p.Leu110Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000476.1:p.Leu110Pro"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA915957440",
      "coordinates": [
        {
          "allele": "C",
          "end": 358,
          "referenceAllele": "T",
          "start": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000626",
      "geneNCBI_id": 353,
      "geneSymbol": "APRT",
      "hgvs": [
        "NM_001030018.2:c.329T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001025189.1:p.Leu110Pro",
        "hgvsWellDefined": "NP_001025189.1:p.Leu110Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675723"
    }
  ],
  "type": "nucleotide"
}