{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA138329196",
  "communityStandardTitle": [
    "NM_020750.3(XPO5):c.3344T>C (p.Met1115Thr)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.43492342A>G?assembly=hg19",
        "id": "chr6:g.43492342A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.43524604A>G?assembly=hg38",
        "id": "chr6:g.43524604A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/11544382",
        "rs": 11544382
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 43524604,
          "referenceAllele": "A",
          "start": 43524603
        }
      ],
      "hgvs": [
        "NC_000006.12:g.43524604A>G",
        "CM000668.2:g.43524604A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 43492342,
          "referenceAllele": "A",
          "start": 43492341
        }
      ],
      "hgvs": [
        "NC_000006.11:g.43492342A>G",
        "CM000668.1:g.43492342A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 43600320,
          "referenceAllele": "A",
          "start": 43600319
        }
      ],
      "hgvs": [
        "NC_000006.10:g.43600320A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 19903,
          "referenceAllele": "A",
          "start": 19902
        }
      ],
      "hgvs": [
        "NG_028283.3:g.19903A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616291"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 56472,
          "referenceAllele": "T",
          "start": 56471
        }
      ],
      "hgvs": [
        "NG_051658.1:g.56472T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617045"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3518,
          "referenceAllele": "T",
          "start": 3517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017675",
      "geneNCBI_id": 57510,
      "geneSymbol": "XPO5",
      "hgvs": [
        "ENST00000265351.12:c.3344T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265351.7:p.Met1115Thr",
        "hgvsWellDefined": "ENSP00000265351.7:p.Met1115Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742825",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265351.12:c.3344T>C"
          },
          "RefSeq": {
            "hgvs": "NM_020750.3:c.3344T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265351.7:p.Met1115Thr"
          },
          "RefSeq": {
            "hgvs": "NP_065801.1:p.Met1115Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 943,
          "endIntronDirection": "+",
          "endIntronOffset": 3556,
          "referenceAllele": "A",
          "start": 943,
          "startIntronDirection": "+",
          "startIntronOffset": 3555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020194",
      "geneNCBI_id": 9533,
      "geneSymbol": "POLR1C",
      "hgvs": [
        "ENST00000607635.2:c.922+3556A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496683.1:n.922+3556A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761696"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 926,
          "endIntronDirection": "+",
          "endIntronOffset": 3556,
          "referenceAllele": "A",
          "start": 926,
          "startIntronDirection": "+",
          "startIntronOffset": 3555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020194",
      "geneNCBI_id": 9533,
      "geneSymbol": "POLR1C",
      "hgvs": [
        "ENST00000643341.1:c.922+3556A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496018.1:n.922+3556A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767226"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 929,
          "endIntronDirection": "+",
          "endIntronOffset": 3287,
          "referenceAllele": "A",
          "start": 929,
          "startIntronDirection": "+",
          "startIntronOffset": 3286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020194",
      "geneNCBI_id": 9533,
      "geneSymbol": "POLR1C",
      "hgvs": [
        "ENST00000643799.1:c.*17+3287A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494529.1:n.*17+3287A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767478"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 943,
          "endIntronDirection": "+",
          "endIntronOffset": 3556,
          "referenceAllele": "A",
          "start": 943,
          "startIntronDirection": "+",
          "startIntronOffset": 3555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020194",
      "geneNCBI_id": 9533,
      "geneSymbol": "POLR1C",
      "hgvs": [
        "ENST00000646433.1:c.922+3556A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494368.1:n.922+3556A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768868"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 943,
          "endIntronDirection": "+",
          "endIntronOffset": 3556,
          "referenceAllele": "A",
          "start": 943,
          "startIntronDirection": "+",
          "startIntronOffset": 3555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020194",
      "geneNCBI_id": 9533,
      "geneSymbol": "POLR1C",
      "hgvs": [
        "ENST00000646700.1:c.922+3556A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495521.1:n.922+3556A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769019"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3555,
          "referenceAllele": "T",
          "start": 3554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017675",
      "geneNCBI_id": 57510,
      "geneSymbol": "XPO5",
      "hgvs": [
        "ENST00000265351.11:c.3344T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265351.7:p.Met1115Thr",
        "hgvsWellDefined": "ENSP00000265351.7:p.Met1115Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251726"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 943,
          "endIntronDirection": "+",
          "endIntronOffset": 3556,
          "referenceAllele": "A",
          "start": 943,
          "startIntronDirection": "+",
          "startIntronOffset": 3555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020194",
      "geneNCBI_id": 9533,
      "geneSymbol": "POLR1C",
      "hgvs": [
        "ENST00000304004.7:c.922+3556A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000307212.3:n.922+3556A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255388"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 688,
          "referenceAllele": "T",
          "start": 687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017675",
      "geneNCBI_id": 57510,
      "geneSymbol": "XPO5",
      "hgvs": [
        "ENST00000455285.2:c.688T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS302979"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1827,
          "referenceAllele": "T",
          "start": 1826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017675",
      "geneNCBI_id": 57510,
      "geneSymbol": "XPO5",
      "hgvs": [
        "ENST00000455854.2:n.1827T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS303234"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 531,
          "referenceAllele": "T",
          "start": 530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017675",
      "geneNCBI_id": 57510,
      "geneSymbol": "XPO5",
      "hgvs": [
        "ENST00000486936.2:c.531T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325618"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 741,
          "referenceAllele": "T",
          "start": 740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017675",
      "geneNCBI_id": 57510,
      "geneSymbol": "XPO5",
      "hgvs": [
        "ENST00000488195.6:n.741T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS326560"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072131975",
      "coordinates": [
        {
          "allele": "C",
          "end": 3555,
          "referenceAllele": "T",
          "start": 3554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017675",
      "geneNCBI_id": 57510,
      "geneSymbol": "XPO5",
      "hgvs": [
        "NM_020750.2:c.3344T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_065801.1:p.Met1115Thr",
        "hgvsWellDefined": "NP_065801.1:p.Met1115Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036553"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 949,
          "endIntronDirection": "+",
          "endIntronOffset": 3556,
          "referenceAllele": "A",
          "start": 949,
          "startIntronDirection": "+",
          "startIntronOffset": 3555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020194",
      "geneNCBI_id": 9533,
      "geneSymbol": "POLR1C",
      "hgvs": [
        "XM_005249491.1:c.922+3556A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249548.1:n.922+3556A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058846"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 949,
          "endIntronDirection": "+",
          "endIntronOffset": 3556,
          "referenceAllele": "A",
          "start": 949,
          "startIntronDirection": "+",
          "startIntronOffset": 3555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020194",
      "geneNCBI_id": 9533,
      "geneSymbol": "POLR1C",
      "hgvs": [
        "XM_011515000.1:c.922+3556A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513302.1:n.922+3556A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082221"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1008,
          "endIntronDirection": "+",
          "endIntronOffset": 3556,
          "referenceAllele": "A",
          "start": 1008,
          "startIntronDirection": "+",
          "startIntronOffset": 3555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020194",
      "geneNCBI_id": 9533,
      "geneSymbol": "POLR1C",
      "hgvs": [
        "NM_001318876.1:c.922+3556A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305805.1:n.922+3556A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513103"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1008,
          "endIntronDirection": "+",
          "endIntronOffset": 3556,
          "referenceAllele": "A",
          "start": 1008,
          "startIntronDirection": "+",
          "startIntronOffset": 3555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020194",
      "geneNCBI_id": 9533,
      "geneSymbol": "POLR1C",
      "hgvs": [
        "NM_001363658.1:c.922+3556A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350587.1:n.922+3556A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523453"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3693,
          "referenceAllele": "T",
          "start": 3692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017675",
      "geneNCBI_id": 57510,
      "geneSymbol": "XPO5",
      "hgvs": [
        "NR_144392.1:n.3693T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS529371"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072131975",
      "coordinates": [
        {
          "allele": "C",
          "end": 3518,
          "referenceAllele": "T",
          "start": 3517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017675",
      "geneNCBI_id": 57510,
      "geneSymbol": "XPO5",
      "hgvs": [
        "NM_020750.3:c.3344T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_065801.1:p.Met1115Thr",
        "hgvsWellDefined": "NP_065801.1:p.Met1115Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670080",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265351.12:c.3344T>C"
          },
          "RefSeq": {
            "hgvs": "NM_020750.3:c.3344T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265351.7:p.Met1115Thr"
          },
          "RefSeq": {
            "hgvs": "NP_065801.1:p.Met1115Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 943,
          "endIntronDirection": "+",
          "endIntronOffset": 3556,
          "referenceAllele": "A",
          "start": 943,
          "startIntronDirection": "+",
          "startIntronOffset": 3555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020194",
      "geneNCBI_id": 9533,
      "geneSymbol": "POLR1C",
      "hgvs": [
        "NM_001363658.2:c.922+3556A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350587.1:n.922+3556A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690724"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 943,
          "endIntronDirection": "+",
          "endIntronOffset": 3556,
          "referenceAllele": "A",
          "start": 943,
          "startIntronDirection": "+",
          "startIntronOffset": 3555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020194",
      "geneNCBI_id": 9533,
      "geneSymbol": "POLR1C",
      "hgvs": [
        "NM_001318876.2:c.922+3556A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305805.1:n.922+3556A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717620"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3656,
          "referenceAllele": "T",
          "start": 3655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017675",
      "geneNCBI_id": 57510,
      "geneSymbol": "XPO5",
      "hgvs": [
        "NR_144392.2:n.3656T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731150"
    }
  ],
  "type": "nucleotide"
}