{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA387867374",
  "communityStandardTitle": [
    "NM_181503.3(EXOSC8):c.17+1G>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=802184[alleleid]",
        "alleleId": 802184,
        "preferredName": "NM_181503.3(EXOSC8):c.17+1G>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/813914",
        "RCV": [
          "RCV001004884"
        ],
        "variationId": 813914
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.37574960G>T?assembly=hg19",
        "id": "chr13:g.37574960G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.37000823G>T?assembly=hg38",
        "id": "chr13:g.37000823G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1412754843",
        "rs": 1412754843
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-37000823-G-T?dataset=gnomad_r4",
        "id": "13-37000823-G-T",
        "variant": "13:37000823 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 37000823,
          "referenceAllele": "G",
          "start": 37000822
        }
      ],
      "hgvs": [
        "NC_000013.11:g.37000823G>T",
        "CM000675.2:g.37000823G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 37574960,
          "referenceAllele": "G",
          "start": 37574959
        }
      ],
      "hgvs": [
        "NC_000013.10:g.37574960G>T",
        "CM000675.1:g.37574960G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 36472960,
          "referenceAllele": "G",
          "start": 36472959
        }
      ],
      "hgvs": [
        "NC_000013.9:g.36472960G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5283,
          "referenceAllele": "G",
          "start": 5282
        }
      ],
      "hgvs": [
        "NG_042275.1:g.5283G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005979"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 41,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 41,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017035",
      "geneNCBI_id": 11340,
      "geneSymbol": "EXOSC8",
      "hgvs": [
        "ENST00000464235.6:n.41+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825144"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 57,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 57,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017035",
      "geneNCBI_id": 11340,
      "geneSymbol": "EXOSC8",
      "hgvs": [
        "ENST00000470423.2:n.57+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825205"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 44,
          "referenceAllele": "G",
          "start": 43
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017035",
      "geneNCBI_id": 11340,
      "geneSymbol": "EXOSC8",
      "hgvs": [
        "ENST00000488108.6:n.44G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825392"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 36,
          "referenceAllele": "G",
          "start": 35
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017035",
      "geneNCBI_id": 11340,
      "geneSymbol": "EXOSC8",
      "hgvs": [
        "ENST00000488779.6:n.36G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825398"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 46,
          "referenceAllele": "G",
          "start": 45
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017035",
      "geneNCBI_id": 11340,
      "geneSymbol": "EXOSC8",
      "hgvs": [
        "ENST00000684866.1:n.46G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829767"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 36,
          "referenceAllele": "G",
          "start": 35
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017035",
      "geneNCBI_id": 11340,
      "geneSymbol": "EXOSC8",
      "hgvs": [
        "ENST00000685563.1:n.36G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830142"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 38,
          "referenceAllele": "G",
          "start": 37
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017035",
      "geneNCBI_id": 11340,
      "geneSymbol": "EXOSC8",
      "hgvs": [
        "ENST00000685624.1:c.-2108G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510384.1:n.-2108G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830176"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 36,
          "referenceAllele": "G",
          "start": 35
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017035",
      "geneNCBI_id": 11340,
      "geneSymbol": "EXOSC8",
      "hgvs": [
        "ENST00000685643.1:n.36G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830182"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 37,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 37,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017035",
      "geneNCBI_id": 11340,
      "geneSymbol": "EXOSC8",
      "hgvs": [
        "ENST00000686472.1:n.37+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830596"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 45,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 45,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017035",
      "geneNCBI_id": 11340,
      "geneSymbol": "EXOSC8",
      "hgvs": [
        "ENST00000686701.1:n.45+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830703"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 37,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 37,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017035",
      "geneNCBI_id": 11340,
      "geneSymbol": "EXOSC8",
      "hgvs": [
        "ENST00000686729.1:c.17+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509000.1:n.17+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830715"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 36,
          "referenceAllele": "G",
          "start": 35
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017035",
      "geneNCBI_id": 11340,
      "geneSymbol": "EXOSC8",
      "hgvs": [
        "ENST00000687482.1:c.-1676G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510481.1:n.-1676G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831110"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 17,
          "referenceAllele": "G",
          "start": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017035",
      "geneNCBI_id": 11340,
      "geneSymbol": "EXOSC8",
      "hgvs": [
        "ENST00000687944.1:c.-1586G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509727.1:n.-1586G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831345"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 35,
          "referenceAllele": "G",
          "start": 34
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017035",
      "geneNCBI_id": 11340,
      "geneSymbol": "EXOSC8",
      "hgvs": [
        "ENST00000688064.1:c.-1595G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510279.1:n.-1595G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831419"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 36,
          "referenceAllele": "G",
          "start": 35
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017035",
      "geneNCBI_id": 11340,
      "geneSymbol": "EXOSC8",
      "hgvs": [
        "ENST00000688436.1:c.-1559G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508444.1:n.-1559G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831628"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 42,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 42,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017035",
      "geneNCBI_id": 11340,
      "geneSymbol": "EXOSC8",
      "hgvs": [
        "ENST00000689744.1:c.17+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510687.1:n.17+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832340"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 36,
          "referenceAllele": "G",
          "start": 35
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017035",
      "geneNCBI_id": 11340,
      "geneSymbol": "EXOSC8",
      "hgvs": [
        "ENST00000689948.1:c.-2103G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509508.1:n.-2103G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832459"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 36,
          "referenceAllele": "G",
          "start": 35
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017035",
      "geneNCBI_id": 11340,
      "geneSymbol": "EXOSC8",
      "hgvs": [
        "ENST00000690673.1:n.36G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832818"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 35,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 35,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017035",
      "geneNCBI_id": 11340,
      "geneSymbol": "EXOSC8",
      "hgvs": [
        "ENST00000690774.1:c.17+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508609.1:n.17+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832870"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 42,
          "referenceAllele": "G",
          "start": 41
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017035",
      "geneNCBI_id": 11340,
      "geneSymbol": "EXOSC8",
      "hgvs": [
        "ENST00000692143.1:c.-1637G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510649.1:n.-1637G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833565"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 37,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 37,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017035",
      "geneNCBI_id": 11340,
      "geneSymbol": "EXOSC8",
      "hgvs": [
        "ENST00000692477.1:n.37+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833738"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 32,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 32,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017035",
      "geneNCBI_id": 11340,
      "geneSymbol": "EXOSC8",
      "hgvs": [
        "ENST00000692761.1:c.17+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510440.1:n.17+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833869"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 35,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 35,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017035",
      "geneNCBI_id": 11340,
      "geneSymbol": "EXOSC8",
      "hgvs": [
        "ENST00000692787.1:c.17+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509588.1:n.17+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833887"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 38,
          "referenceAllele": "G",
          "start": 37
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017035",
      "geneNCBI_id": 11340,
      "geneSymbol": "EXOSC8",
      "hgvs": [
        "ENST00000693100.1:c.-1661G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509449.1:n.-1661G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834063"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 36,
          "referenceAllele": "G",
          "start": 35
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017035",
      "geneNCBI_id": 11340,
      "geneSymbol": "EXOSC8",
      "hgvs": [
        "ENST00000693733.1:n.36G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS834401"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 37,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 37,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017035",
      "geneNCBI_id": 11340,
      "geneSymbol": "EXOSC8",
      "hgvs": [
        "ENST00000389704.4:c.17+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374354.3:n.17+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752833",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389704.4:c.17+1G>T"
          },
          "RefSeq": {
            "hgvs": "NM_181503.3:c.17+1G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000374354.3:n.17+1G>T"
          },
          "RefSeq": {
            "hgvs": "NP_852480.1:n.17+1G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 40,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 40,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017035",
      "geneNCBI_id": 11340,
      "geneSymbol": "EXOSC8",
      "hgvs": [
        "ENST00000239893.9:c.17+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000239893.5:n.17+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249108"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 282,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 282,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017035",
      "geneNCBI_id": 11340,
      "geneSymbol": "EXOSC8",
      "hgvs": [
        "ENST00000389704.3:c.17+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374354.3:n.17+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274273"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 37,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 37,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017035",
      "geneNCBI_id": 11340,
      "geneSymbol": "EXOSC8",
      "hgvs": [
        "ENST00000474661.5:n.37+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316123"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 379,
          "endIntronDirection": "-",
          "endIntronOffset": 1449,
          "referenceAllele": "G",
          "start": 379,
          "startIntronDirection": "-",
          "startIntronOffset": 1450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017035",
      "geneNCBI_id": 11340,
      "geneSymbol": "EXOSC8",
      "hgvs": [
        "ENST00000489088.5:n.380-1450G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327224"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 36,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 36,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017035",
      "geneNCBI_id": 11340,
      "geneSymbol": "EXOSC8",
      "hgvs": [
        "ENST00000490537.6:n.36+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS328334"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 282,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 282,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017035",
      "geneNCBI_id": 11340,
      "geneSymbol": "EXOSC8",
      "hgvs": [
        "NM_181503.2:c.17+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_852480.1:n.17+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043736"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 450,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 450,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017035",
      "geneNCBI_id": 11340,
      "geneSymbol": "EXOSC8",
      "hgvs": [
        "XM_006719763.1:c.165+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719826.1:n.165+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073317"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 450,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 450,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017035",
      "geneNCBI_id": 11340,
      "geneSymbol": "EXOSC8",
      "hgvs": [
        "XR_429212.1:n.450+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118304"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 450,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 450,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017035",
      "geneNCBI_id": 11340,
      "geneSymbol": "EXOSC8",
      "hgvs": [
        "XR_941480.1:n.450+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136152"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 450,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 450,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017035",
      "geneNCBI_id": 11340,
      "geneSymbol": "EXOSC8",
      "hgvs": [
        "XR_429212.2:n.450+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606656"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 37,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 37,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017035",
      "geneNCBI_id": 11340,
      "geneSymbol": "EXOSC8",
      "hgvs": [
        "NM_181503.3:c.17+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_852480.1:n.17+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672921",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389704.4:c.17+1G>T"
          },
          "RefSeq": {
            "hgvs": "NM_181503.3:c.17+1G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000374354.3:n.17+1G>T"
          },
          "RefSeq": {
            "hgvs": "NP_852480.1:n.17+1G>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}