{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA245158",
  "communityStandardTitle": [
    "NM_000883.4(IMPDH1):c.336C>T (p.Ala112=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=194330[alleleid]",
        "alleleId": 194330,
        "preferredName": "NM_000883.4(IMPDH1):c.336C>T (p.Ala112=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/197169",
        "RCV": [
          "RCV000178133",
          "RCV000348403",
          "RCV000395095"
        ],
        "variationId": 197169
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/7-128045838-G-A",
        "id": "7-128045838-G-A",
        "variant": "7:128045838 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.128045838G>A?assembly=hg19",
        "id": "chr7:g.128045838G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.128405784G>A?assembly=hg38",
        "id": "chr7:g.128405784G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/547740249",
        "rs": 547740249
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-128045838-G-A?dataset=gnomad_r2_1",
        "id": "7-128045838-G-A",
        "variant": "7:128045838 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-128405784-G-A?dataset=gnomad_r3",
        "id": "7-128405784-G-A",
        "variant": "7:128405784 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-128405784-G-A?dataset=gnomad_r4",
        "id": "7-128405784-G-A",
        "variant": "7:128405784 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 128405784,
          "referenceAllele": "G",
          "start": 128405783
        }
      ],
      "hgvs": [
        "NC_000007.14:g.128405784G>A",
        "CM000669.2:g.128405784G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 128045838,
          "referenceAllele": "G",
          "start": 128045837
        }
      ],
      "hgvs": [
        "NC_000007.13:g.128045838G>A",
        "CM000669.1:g.128045838G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 127833074,
          "referenceAllele": "G",
          "start": 127833073
        }
      ],
      "hgvs": [
        "NC_000007.12:g.127833074G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9199,
          "referenceAllele": "C",
          "start": 9198
        }
      ],
      "hgvs": [
        "NG_009194.1:g.9199C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001473"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 309,
          "referenceAllele": "C",
          "start": 308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "ENST00000348127.11:c.228C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265385.8:p.Ala76="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS913970"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 192,
          "referenceAllele": "C",
          "start": 191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "ENST00000484496.6:n.192C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS914142"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 417,
          "referenceAllele": "C",
          "start": 416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "ENST00000338791.11:c.336C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345096.6:p.Ala112="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747771",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000338791.11:c.336C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000883.4:c.336C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000345096.6:p.Ala112="
          },
          "RefSeq": {
            "hgvs": "NP_000874.2:p.Ala112="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 687,
          "referenceAllele": "C",
          "start": 686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "ENST00000338791.10:c.336C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345096.6:p.Ala112="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260727"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 309,
          "referenceAllele": "C",
          "start": 308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "ENST00000348127.10:c.228C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265385.8:p.Ala76="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262440"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 387,
          "referenceAllele": "C",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "ENST00000354269.9:c.306C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346219.5:p.Ala102="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263064"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 254,
          "endIntronDirection": "-",
          "endIntronOffset": 2029,
          "referenceAllele": "C",
          "start": 254,
          "startIntronDirection": "-",
          "startIntronOffset": 2030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "ENST00000419067.6:c.255-2030C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399400.2:n.255-2030C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285703"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 82,
          "referenceAllele": "C",
          "start": 81
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "ENST00000469328.5:c.82C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS312032"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 159,
          "referenceAllele": "C",
          "start": 158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "ENST00000470772.5:c.81C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417296.1:p.Ala27="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS313130"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 373,
          "referenceAllele": "C",
          "start": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "ENST00000473463.1:c.*82C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420469.1:n.*82C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS315199"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 159,
          "referenceAllele": "C",
          "start": 158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "ENST00000480861.5:c.81C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420185.1:p.Ala27="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS320907"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 192,
          "referenceAllele": "C",
          "start": 191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "ENST00000484496.5:c.192C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418742.1:p.Ala64="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS323738"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 192,
          "endIntronDirection": "-",
          "endIntronOffset": 2029,
          "referenceAllele": "C",
          "start": 192,
          "startIntronDirection": "-",
          "startIntronOffset": 2030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "ENST00000489263.1:c.147-2030C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418592.1:n.147-2030C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS327364"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 505,
          "referenceAllele": "C",
          "start": 504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "ENST00000491376.5:n.505C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS328988"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 165,
          "referenceAllele": "C",
          "start": 164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "ENST00000496200.5:c.81C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420803.1:p.Ala27="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS332734"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 156,
          "referenceAllele": "C",
          "start": 155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "ENST00000496487.5:n.156C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS332939"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 231,
          "endIntronDirection": "-",
          "endIntronOffset": 2029,
          "referenceAllele": "C",
          "start": 231,
          "startIntronDirection": "-",
          "startIntronOffset": 2030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "ENST00000497868.5:c.147-2030C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419609.1:n.147-2030C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS333999"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 687,
          "referenceAllele": "C",
          "start": 686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "ENST00000626419.2:c.81C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486056.1:p.Ala27="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406735"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825211464",
      "coordinates": [
        {
          "allele": "T",
          "end": 417,
          "referenceAllele": "C",
          "start": 416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "NM_000883.3:c.336C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000874.2:p.Ala112="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006910"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825548307",
      "coordinates": [
        {
          "allele": "T",
          "end": 387,
          "referenceAllele": "C",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "NM_001102605.1:c.306C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001096075.1:p.Ala102="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011007"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825801736",
      "coordinates": [
        {
          "allele": "T",
          "end": 187,
          "referenceAllele": "C",
          "start": 186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "NM_001142573.1:c.81C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136045.1:p.Ala27="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012978"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825802370",
      "coordinates": [
        {
          "allele": "T",
          "end": 187,
          "referenceAllele": "C",
          "start": 186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "NM_001142574.1:c.81C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136046.1:p.Ala27="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012979"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825803005",
      "coordinates": [
        {
          "allele": "T",
          "end": 187,
          "referenceAllele": "C",
          "start": 186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "NM_001142575.1:c.81C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136047.1:p.Ala27="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012980"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 335,
          "endIntronDirection": "-",
          "endIntronOffset": 2029,
          "referenceAllele": "C",
          "start": 335,
          "startIntronDirection": "-",
          "startIntronOffset": 2030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "NM_001142576.1:c.255-2030C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136048.1:n.255-2030C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012981"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 232,
          "endIntronDirection": "-",
          "endIntronOffset": 2029,
          "referenceAllele": "C",
          "start": 232,
          "startIntronDirection": "-",
          "startIntronOffset": 2030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "NM_001304521.1:c.147-2030C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001291450.1:n.147-2030C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025748"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830411233",
      "coordinates": [
        {
          "allele": "T",
          "end": 309,
          "referenceAllele": "C",
          "start": 308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "NM_183243.2:c.228C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_899066.1:p.Ala76="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044251"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 353,
          "referenceAllele": "C",
          "start": 352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "XM_005250314.1:c.105C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250371.1:p.Ala35="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059143"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 417,
          "referenceAllele": "C",
          "start": 416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "XM_006715967.1:c.336C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716030.1:p.Ala112="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071438"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 387,
          "referenceAllele": "C",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "XM_006715968.1:c.306C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716031.1:p.Ala102="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071439"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 309,
          "referenceAllele": "C",
          "start": 308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "XM_006715969.1:c.228C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716032.1:p.Ala76="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071440"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 222,
          "endIntronDirection": "-",
          "endIntronOffset": 2029,
          "referenceAllele": "C",
          "start": 222,
          "startIntronDirection": "-",
          "startIntronOffset": 2030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "XM_006715970.2:c.147-2030C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716033.1:n.147-2030C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071441"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 353,
          "referenceAllele": "C",
          "start": 352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "XM_006715971.1:c.105C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716034.1:p.Ala35="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071442"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 505,
          "referenceAllele": "C",
          "start": 504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "XM_017012172.1:c.105C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867661.1:p.Ala35="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565830"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 387,
          "referenceAllele": "C",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "XM_017012173.1:c.306C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867662.1:p.Ala102="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565831"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 387,
          "referenceAllele": "C",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "XM_024446755.1:c.306C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302523.1:p.Ala102="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580405"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 309,
          "referenceAllele": "C",
          "start": 308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "XM_024446756.1:c.228C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302524.1:p.Ala76="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580406"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 234,
          "endIntronDirection": "-",
          "endIntronOffset": 2029,
          "referenceAllele": "C",
          "start": 234,
          "startIntronDirection": "-",
          "startIntronOffset": 2030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "XM_024446757.1:c.147-2030C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302525.1:n.147-2030C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580407"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 505,
          "referenceAllele": "C",
          "start": 504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "XM_024446758.1:c.105C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302526.1:p.Ala35="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580408"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825211464",
      "coordinates": [
        {
          "allele": "T",
          "end": 417,
          "referenceAllele": "C",
          "start": 416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "NM_000883.4:c.336C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000874.2:p.Ala112="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662626",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000338791.11:c.336C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000883.4:c.336C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000345096.6:p.Ala112="
          },
          "RefSeq": {
            "hgvs": "NP_000874.2:p.Ala112="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825548307",
      "coordinates": [
        {
          "allele": "T",
          "end": 387,
          "referenceAllele": "C",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "NM_001102605.2:c.306C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001096075.1:p.Ala102="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676605"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825801736",
      "coordinates": [
        {
          "allele": "T",
          "end": 212,
          "referenceAllele": "C",
          "start": 211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "NM_001142573.2:c.81C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136045.1:p.Ala27="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677572"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825802370",
      "coordinates": [
        {
          "allele": "T",
          "end": 212,
          "referenceAllele": "C",
          "start": 211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "NM_001142574.2:c.81C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136046.1:p.Ala27="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677573"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825803005",
      "coordinates": [
        {
          "allele": "T",
          "end": 212,
          "referenceAllele": "C",
          "start": 211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "NM_001142575.2:c.81C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136047.1:p.Ala27="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677574"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 335,
          "endIntronDirection": "-",
          "endIntronOffset": 2029,
          "referenceAllele": "C",
          "start": 335,
          "startIntronDirection": "-",
          "startIntronOffset": 2030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "NM_001142576.2:c.255-2030C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136048.1:n.255-2030C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677575"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 227,
          "endIntronDirection": "-",
          "endIntronOffset": 2029,
          "referenceAllele": "C",
          "start": 227,
          "startIntronDirection": "-",
          "startIntronOffset": 2030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "NM_001304521.2:c.147-2030C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001291450.1:n.147-2030C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683712"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830411233",
      "coordinates": [
        {
          "allele": "T",
          "end": 309,
          "referenceAllele": "C",
          "start": 308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "NM_183243.3:c.228C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_899066.1:p.Ala76="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701171"
    }
  ],
  "type": "nucleotide"
}