{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2580595386",
  "communityStandardTitle": [
    "NM_000883.4(IMPDH1):c.579+119G>T"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2278293",
        "rs": 2278293
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 128400698,
          "referenceAllele": "C",
          "start": 128400697
        }
      ],
      "hgvs": [
        "NC_000007.14:g.128400698C>A",
        "CM000669.2:g.128400698C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 128040752,
          "referenceAllele": "C",
          "start": 128040751
        }
      ],
      "hgvs": [
        "NC_000007.13:g.128040752C>A",
        "CM000669.1:g.128040752C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 127827988,
          "referenceAllele": "C",
          "start": 127827987
        }
      ],
      "hgvs": [
        "NC_000007.12:g.127827988C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14285,
          "referenceAllele": "G",
          "start": 14284
        }
      ],
      "hgvs": [
        "NG_009194.1:g.14285G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001473"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 552,
          "endIntronDirection": "+",
          "endIntronOffset": 119,
          "referenceAllele": "G",
          "start": 552,
          "startIntronDirection": "+",
          "startIntronOffset": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "ENST00000348127.11:c.471+119G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265385.8:n.471+119G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS913970"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 435,
          "endIntronDirection": "+",
          "endIntronOffset": 119,
          "referenceAllele": "G",
          "start": 435,
          "startIntronDirection": "+",
          "startIntronOffset": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "ENST00000484496.6:n.435+119G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS914142"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 660,
          "endIntronDirection": "+",
          "endIntronOffset": 119,
          "referenceAllele": "G",
          "start": 660,
          "startIntronDirection": "+",
          "startIntronOffset": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "ENST00000338791.11:c.579+119G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345096.6:n.579+119G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747771",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000338791.11:c.579+119G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000883.4:c.579+119G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000345096.6:n.579+119G>T"
          },
          "RefSeq": {
            "hgvs": "NP_000874.2:n.579+119G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 211,
          "endIntronDirection": "+",
          "endIntronOffset": 134,
          "referenceAllele": "G",
          "start": 211,
          "startIntronDirection": "+",
          "startIntronOffset": 133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "ENST00000648462.1:c.211+134G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769995"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 930,
          "endIntronDirection": "+",
          "endIntronOffset": 119,
          "referenceAllele": "G",
          "start": 930,
          "startIntronDirection": "+",
          "startIntronOffset": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "ENST00000338791.10:c.579+119G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345096.6:n.579+119G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260727"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 552,
          "endIntronDirection": "+",
          "endIntronOffset": 119,
          "referenceAllele": "G",
          "start": 552,
          "startIntronDirection": "+",
          "startIntronOffset": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "ENST00000348127.10:c.471+119G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265385.8:n.471+119G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262440"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 630,
          "endIntronDirection": "+",
          "endIntronOffset": 119,
          "referenceAllele": "G",
          "start": 630,
          "startIntronDirection": "+",
          "startIntronOffset": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "ENST00000354269.9:c.549+119G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346219.5:n.549+119G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263064"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 480,
          "endIntronDirection": "+",
          "endIntronOffset": 119,
          "referenceAllele": "G",
          "start": 480,
          "startIntronDirection": "+",
          "startIntronOffset": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "ENST00000419067.6:c.480+119G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399400.2:n.480+119G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285703"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 325,
          "endIntronDirection": "+",
          "endIntronOffset": 119,
          "referenceAllele": "G",
          "start": 325,
          "startIntronDirection": "+",
          "startIntronOffset": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "ENST00000469328.5:c.325+119G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS312032"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 402,
          "endIntronDirection": "+",
          "endIntronOffset": 119,
          "referenceAllele": "G",
          "start": 402,
          "startIntronDirection": "+",
          "startIntronOffset": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "ENST00000470772.5:c.324+119G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417296.1:n.324+119G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS313130"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 387,
          "endIntronDirection": "+",
          "endIntronOffset": 134,
          "referenceAllele": "G",
          "start": 387,
          "startIntronDirection": "+",
          "startIntronOffset": 133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "ENST00000480861.5:c.309+134G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420185.1:n.309+134G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS320907"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 435,
          "endIntronDirection": "+",
          "endIntronOffset": 119,
          "referenceAllele": "G",
          "start": 435,
          "startIntronDirection": "+",
          "startIntronOffset": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "ENST00000484496.5:c.435+119G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418742.1:n.435+119G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS323738"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 343,
          "endIntronDirection": "-",
          "endIntronOffset": 158,
          "referenceAllele": "G",
          "start": 343,
          "startIntronDirection": "-",
          "startIntronOffset": 159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "ENST00000489263.1:c.298-159G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418592.1:n.298-159G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS327364"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 333,
          "endIntronDirection": "-",
          "endIntronOffset": 158,
          "referenceAllele": "G",
          "start": 333,
          "startIntronDirection": "-",
          "startIntronOffset": 159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "ENST00000496200.5:c.250-159G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420803.1:n.250-159G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS332734"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 518,
          "referenceAllele": "G",
          "start": 517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "ENST00000496487.5:n.518G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS332939"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 457,
          "endIntronDirection": "+",
          "endIntronOffset": 119,
          "referenceAllele": "G",
          "start": 457,
          "startIntronDirection": "+",
          "startIntronOffset": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "ENST00000497868.5:c.372+119G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419609.1:n.372+119G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS333999"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 930,
          "endIntronDirection": "+",
          "endIntronOffset": 119,
          "referenceAllele": "G",
          "start": 930,
          "startIntronDirection": "+",
          "startIntronOffset": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "ENST00000626419.2:c.324+119G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486056.1:n.324+119G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406735"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 660,
          "endIntronDirection": "+",
          "endIntronOffset": 119,
          "referenceAllele": "G",
          "start": 660,
          "startIntronDirection": "+",
          "startIntronOffset": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "NM_000883.3:c.579+119G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000874.2:n.579+119G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006910"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 630,
          "endIntronDirection": "+",
          "endIntronOffset": 119,
          "referenceAllele": "G",
          "start": 630,
          "startIntronDirection": "+",
          "startIntronOffset": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "NM_001102605.1:c.549+119G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001096075.1:n.549+119G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 430,
          "endIntronDirection": "+",
          "endIntronOffset": 119,
          "referenceAllele": "G",
          "start": 430,
          "startIntronDirection": "+",
          "startIntronOffset": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "NM_001142573.1:c.324+119G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136045.1:n.324+119G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012978"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 415,
          "endIntronDirection": "+",
          "endIntronOffset": 134,
          "referenceAllele": "G",
          "start": 415,
          "startIntronDirection": "+",
          "startIntronOffset": 133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "NM_001142574.1:c.309+134G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136046.1:n.309+134G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012979"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 355,
          "endIntronDirection": "-",
          "endIntronOffset": 158,
          "referenceAllele": "G",
          "start": 355,
          "startIntronDirection": "-",
          "startIntronOffset": 159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "NM_001142575.1:c.250-159G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136047.1:n.250-159G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012980"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 561,
          "endIntronDirection": "+",
          "endIntronOffset": 119,
          "referenceAllele": "G",
          "start": 561,
          "startIntronDirection": "+",
          "startIntronOffset": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "NM_001142576.1:c.480+119G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136048.1:n.480+119G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012981"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 458,
          "endIntronDirection": "+",
          "endIntronOffset": 119,
          "referenceAllele": "G",
          "start": 458,
          "startIntronDirection": "+",
          "startIntronOffset": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "NM_001304521.1:c.372+119G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001291450.1:n.372+119G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025748"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 552,
          "endIntronDirection": "+",
          "endIntronOffset": 119,
          "referenceAllele": "G",
          "start": 552,
          "startIntronDirection": "+",
          "startIntronOffset": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "NM_183243.2:c.471+119G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_899066.1:n.471+119G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044251"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 596,
          "endIntronDirection": "+",
          "endIntronOffset": 119,
          "referenceAllele": "G",
          "start": 596,
          "startIntronDirection": "+",
          "startIntronOffset": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "XM_005250314.1:c.348+119G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250371.1:n.348+119G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059143"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 660,
          "endIntronDirection": "+",
          "endIntronOffset": 119,
          "referenceAllele": "G",
          "start": 660,
          "startIntronDirection": "+",
          "startIntronOffset": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "XM_006715967.1:c.579+119G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716030.1:n.579+119G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071438"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 630,
          "endIntronDirection": "+",
          "endIntronOffset": 119,
          "referenceAllele": "G",
          "start": 630,
          "startIntronDirection": "+",
          "startIntronOffset": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "XM_006715968.1:c.549+119G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716031.1:n.549+119G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071439"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 552,
          "endIntronDirection": "+",
          "endIntronOffset": 119,
          "referenceAllele": "G",
          "start": 552,
          "startIntronDirection": "+",
          "startIntronOffset": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "XM_006715969.1:c.471+119G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716032.1:n.471+119G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071440"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 448,
          "endIntronDirection": "+",
          "endIntronOffset": 119,
          "referenceAllele": "G",
          "start": 448,
          "startIntronDirection": "+",
          "startIntronOffset": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "XM_006715970.2:c.372+119G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716033.1:n.372+119G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071441"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 596,
          "endIntronDirection": "+",
          "endIntronOffset": 119,
          "referenceAllele": "G",
          "start": 596,
          "startIntronDirection": "+",
          "startIntronOffset": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "XM_006715971.1:c.348+119G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716034.1:n.348+119G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071442"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 748,
          "endIntronDirection": "+",
          "endIntronOffset": 119,
          "referenceAllele": "G",
          "start": 748,
          "startIntronDirection": "+",
          "startIntronOffset": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "XM_017012172.1:c.348+119G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867661.1:n.348+119G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565830"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 630,
          "endIntronDirection": "+",
          "endIntronOffset": 119,
          "referenceAllele": "G",
          "start": 630,
          "startIntronDirection": "+",
          "startIntronOffset": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "XM_017012173.1:c.549+119G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867662.1:n.549+119G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565831"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 630,
          "endIntronDirection": "+",
          "endIntronOffset": 119,
          "referenceAllele": "G",
          "start": 630,
          "startIntronDirection": "+",
          "startIntronOffset": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "XM_024446755.1:c.549+119G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302523.1:n.549+119G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580405"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 552,
          "endIntronDirection": "+",
          "endIntronOffset": 119,
          "referenceAllele": "G",
          "start": 552,
          "startIntronDirection": "+",
          "startIntronOffset": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "XM_024446756.1:c.471+119G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302524.1:n.471+119G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580406"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 460,
          "endIntronDirection": "+",
          "endIntronOffset": 119,
          "referenceAllele": "G",
          "start": 460,
          "startIntronDirection": "+",
          "startIntronOffset": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "XM_024446757.1:c.372+119G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302525.1:n.372+119G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580407"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 748,
          "endIntronDirection": "+",
          "endIntronOffset": 119,
          "referenceAllele": "G",
          "start": 748,
          "startIntronDirection": "+",
          "startIntronOffset": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "XM_024446758.1:c.348+119G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302526.1:n.348+119G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580408"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 660,
          "endIntronDirection": "+",
          "endIntronOffset": 119,
          "referenceAllele": "G",
          "start": 660,
          "startIntronDirection": "+",
          "startIntronOffset": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "NM_000883.4:c.579+119G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000874.2:n.579+119G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662626",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000338791.11:c.579+119G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000883.4:c.579+119G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000345096.6:n.579+119G>T"
          },
          "RefSeq": {
            "hgvs": "NP_000874.2:n.579+119G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 630,
          "endIntronDirection": "+",
          "endIntronOffset": 119,
          "referenceAllele": "G",
          "start": 630,
          "startIntronDirection": "+",
          "startIntronOffset": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "NM_001102605.2:c.549+119G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001096075.1:n.549+119G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676605"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 455,
          "endIntronDirection": "+",
          "endIntronOffset": 119,
          "referenceAllele": "G",
          "start": 455,
          "startIntronDirection": "+",
          "startIntronOffset": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "NM_001142573.2:c.324+119G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136045.1:n.324+119G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677572"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 440,
          "endIntronDirection": "+",
          "endIntronOffset": 134,
          "referenceAllele": "G",
          "start": 440,
          "startIntronDirection": "+",
          "startIntronOffset": 133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "NM_001142574.2:c.309+134G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136046.1:n.309+134G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677573"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 380,
          "endIntronDirection": "-",
          "endIntronOffset": 158,
          "referenceAllele": "G",
          "start": 380,
          "startIntronDirection": "-",
          "startIntronOffset": 159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "NM_001142575.2:c.250-159G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136047.1:n.250-159G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677574"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 561,
          "endIntronDirection": "+",
          "endIntronOffset": 119,
          "referenceAllele": "G",
          "start": 561,
          "startIntronDirection": "+",
          "startIntronOffset": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "NM_001142576.2:c.480+119G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136048.1:n.480+119G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677575"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 453,
          "endIntronDirection": "+",
          "endIntronOffset": 119,
          "referenceAllele": "G",
          "start": 453,
          "startIntronDirection": "+",
          "startIntronOffset": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "NM_001304521.2:c.372+119G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001291450.1:n.372+119G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683712"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 552,
          "endIntronDirection": "+",
          "endIntronOffset": 119,
          "referenceAllele": "G",
          "start": 552,
          "startIntronDirection": "+",
          "startIntronOffset": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "NM_183243.3:c.471+119G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_899066.1:n.471+119G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701171"
    }
  ],
  "type": "nucleotide"
}