{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16621423",
  "communityStandardTitle": [
    "NM_001032382.2(PQBP1):c.641+1G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=411392[alleleid]",
        "alleleId": 411392,
        "preferredName": "NM_001032382.2(PQBP1):c.641+1G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/424138",
        "RCV": [
          "RCV000485365"
        ],
        "variationId": 424138
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.48760073G>A?assembly=hg19",
        "id": "chrX:g.48760073G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.48902796G>A?assembly=hg38",
        "id": "chrX:g.48902796G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064796819",
        "rs": 1064796819
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-48902796-G-A?dataset=gnomad_r4",
        "id": "X-48902796-G-A",
        "variant": "X:48902796 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 48902796,
          "referenceAllele": "G",
          "start": 48902795
        }
      ],
      "hgvs": [
        "NC_000023.11:g.48902796G>A",
        "CM000685.2:g.48902796G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 48760073,
          "referenceAllele": "G",
          "start": 48760072
        }
      ],
      "hgvs": [
        "NC_000023.10:g.48760073G>A",
        "CM000685.1:g.48760073G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 48645017,
          "referenceAllele": "G",
          "start": 48645016
        }
      ],
      "hgvs": [
        "NC_000023.9:g.48645017G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9879,
          "referenceAllele": "G",
          "start": 9878
        }
      ],
      "hgvs": [
        "NG_015967.1:g.9879G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002922"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 354,
          "referenceAllele": "C",
          "start": 353
        }
      ],
      "hgvs": [
        "NG_015968.2:g.354C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002923"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14163,
          "referenceAllele": "C",
          "start": 14162
        }
      ],
      "hgvs": [
        "NG_034300.1:g.14163C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005841"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1213,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1213,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009330",
      "geneNCBI_id": 10084,
      "geneSymbol": "PQBP1",
      "hgvs": [
        "ENST00000218224.9:c.641+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000218224.4:n.641+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823555"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 722,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 722,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009330",
      "geneNCBI_id": 10084,
      "geneSymbol": "PQBP1",
      "hgvs": [
        "ENST00000376563.6:c.641+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365747.1:n.641+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824337"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 746,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 746,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009330",
      "geneNCBI_id": 10084,
      "geneSymbol": "PQBP1",
      "hgvs": [
        "ENST00000396763.6:c.641+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379985.1:n.641+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824507"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 701,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 701,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009330",
      "geneNCBI_id": 10084,
      "geneSymbol": "PQBP1",
      "hgvs": [
        "ENST00000443648.6:c.641+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414861.2:n.641+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824943"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 322,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 322,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009330",
      "geneNCBI_id": 10084,
      "geneSymbol": "PQBP1",
      "hgvs": [
        "ENST00000456306.2:c.32+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393013.2:n.32+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825074"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 677,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 677,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009330",
      "geneNCBI_id": 10084,
      "geneSymbol": "PQBP1",
      "hgvs": [
        "ENST00000472742.6:c.*58+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509191.1:n.*58+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825235"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1471,
          "referenceAllele": "G",
          "start": 1470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009330",
      "geneNCBI_id": 10084,
      "geneSymbol": "PQBP1",
      "hgvs": [
        "ENST00000473764.6:n.1471G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825244"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1665,
          "referenceAllele": "G",
          "start": 1664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009330",
      "geneNCBI_id": 10084,
      "geneSymbol": "PQBP1",
      "hgvs": [
        "ENST00000474671.6:n.1665G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825250"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1590,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1590,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009330",
      "geneNCBI_id": 10084,
      "geneSymbol": "PQBP1",
      "hgvs": [
        "ENST00000477997.6:n.1590+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825283"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1765,
          "referenceAllele": "G",
          "start": 1764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009330",
      "geneNCBI_id": 10084,
      "geneSymbol": "PQBP1",
      "hgvs": [
        "ENST00000486150.6:n.1765G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825373"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1845,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1845,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009330",
      "geneNCBI_id": 10084,
      "geneSymbol": "PQBP1",
      "hgvs": [
        "ENST00000692023.1:c.*1062+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509927.1:n.*1062+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833501"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 812,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 812,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009330",
      "geneNCBI_id": 10084,
      "geneSymbol": "PQBP1",
      "hgvs": [
        "ENST00000447146.7:c.641+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000391759.2:n.641+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756115",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000447146.7:c.641+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001032382.2:c.641+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000391759.2:n.641+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_001027554.1:n.641+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1773,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1773,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009330",
      "geneNCBI_id": 10084,
      "geneSymbol": "PQBP1",
      "hgvs": [
        "ENST00000651767.1:c.641+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498362.1:n.641+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771846"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 898,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 898,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009330",
      "geneNCBI_id": 10084,
      "geneSymbol": "PQBP1",
      "hgvs": [
        "ENST00000218224.8:c.641+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000218224.4:n.641+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248131"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 449,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 449,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009330",
      "geneNCBI_id": 10084,
      "geneSymbol": "PQBP1",
      "hgvs": [
        "ENST00000247140.8:c.356+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000247140.4:n.356+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249495"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 841,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 841,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009330",
      "geneNCBI_id": 10084,
      "geneSymbol": "PQBP1",
      "hgvs": [
        "ENST00000376563.5:c.641+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365747.1:n.641+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271219"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 545,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 545,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009330",
      "geneNCBI_id": 10084,
      "geneSymbol": "PQBP1",
      "hgvs": [
        "ENST00000376566.8:c.356+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365750.4:n.356+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271220"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 750,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 750,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009330",
      "geneNCBI_id": 10084,
      "geneSymbol": "PQBP1",
      "hgvs": [
        "ENST00000396763.5:c.641+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379985.1:n.641+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277428"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 811,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 811,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009330",
      "geneNCBI_id": 10084,
      "geneSymbol": "PQBP1",
      "hgvs": [
        "ENST00000447146.6:c.641+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000391759.2:n.641+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299086"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 322,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 322,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009330",
      "geneNCBI_id": 10084,
      "geneSymbol": "PQBP1",
      "hgvs": [
        "ENST00000456306.1:c.322+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS303423"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 856,
          "referenceAllele": "G",
          "start": 855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009330",
      "geneNCBI_id": 10084,
      "geneSymbol": "PQBP1",
      "hgvs": [
        "ENST00000463529.4:n.856G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS307547"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 655,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 655,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009330",
      "geneNCBI_id": 10084,
      "geneSymbol": "PQBP1",
      "hgvs": [
        "ENST00000465859.2:n.655+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309371"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 855,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 855,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009330",
      "geneNCBI_id": 10084,
      "geneSymbol": "PQBP1",
      "hgvs": [
        "ENST00000470059.5:n.855+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS312590"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 613,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 613,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009330",
      "geneNCBI_id": 10084,
      "geneSymbol": "PQBP1",
      "hgvs": [
        "ENST00000470062.5:n.613+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS312592"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1213,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1213,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009330",
      "geneNCBI_id": 10084,
      "geneSymbol": "PQBP1",
      "hgvs": [
        "ENST00000473764.5:n.1213+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS315434"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 701,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 701,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009330",
      "geneNCBI_id": 10084,
      "geneSymbol": "PQBP1",
      "hgvs": [
        "ENST00000474671.5:n.701+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316132"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 722,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 722,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009330",
      "geneNCBI_id": 10084,
      "geneSymbol": "PQBP1",
      "hgvs": [
        "ENST00000477997.5:n.722+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS318692"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 762,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 762,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009330",
      "geneNCBI_id": 10084,
      "geneSymbol": "PQBP1",
      "hgvs": [
        "NM_001032381.1:c.641+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001027553.1:n.641+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009073"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 830,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 830,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009330",
      "geneNCBI_id": 10084,
      "geneSymbol": "PQBP1",
      "hgvs": [
        "NM_001032382.1:c.641+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001027554.1:n.641+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009074"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 841,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 841,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009330",
      "geneNCBI_id": 10084,
      "geneSymbol": "PQBP1",
      "hgvs": [
        "NM_001032383.1:c.641+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001027555.1:n.641+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009075"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 750,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 750,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009330",
      "geneNCBI_id": 10084,
      "geneSymbol": "PQBP1",
      "hgvs": [
        "NM_001032384.1:c.641+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001027556.1:n.641+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009076"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 759,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 759,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009330",
      "geneNCBI_id": 10084,
      "geneSymbol": "PQBP1",
      "hgvs": [
        "NM_001167989.1:c.638+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161461.1:n.638+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015042"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 720,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 720,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009330",
      "geneNCBI_id": 10084,
      "geneSymbol": "PQBP1",
      "hgvs": [
        "NM_001167990.1:c.617+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161462.1:n.617+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015043"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 359,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 359,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009330",
      "geneNCBI_id": 10084,
      "geneSymbol": "PQBP1",
      "hgvs": [
        "NM_001167992.1:c.341+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161464.1:n.341+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015044"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 895,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 895,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009330",
      "geneNCBI_id": 10084,
      "geneSymbol": "PQBP1",
      "hgvs": [
        "NM_005710.2:c.641+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005701.1:n.641+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030790"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 545,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 545,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009330",
      "geneNCBI_id": 10084,
      "geneSymbol": "PQBP1",
      "hgvs": [
        "NM_144495.2:c.356+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_652766.1:n.356+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041084"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 822,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 822,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009330",
      "geneNCBI_id": 10084,
      "geneSymbol": "PQBP1",
      "hgvs": [
        "XM_005272571.3:c.638+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272628.1:n.638+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067301"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 467,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 467,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009330",
      "geneNCBI_id": 10084,
      "geneSymbol": "PQBP1",
      "hgvs": [
        "XM_005272572.3:c.356+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272629.1:n.356+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067302"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 893,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 893,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009330",
      "geneNCBI_id": 10084,
      "geneSymbol": "PQBP1",
      "hgvs": [
        "XM_011543884.1:c.641+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542186.1:n.641+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110797"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 468,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 468,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009330",
      "geneNCBI_id": 10084,
      "geneSymbol": "PQBP1",
      "hgvs": [
        "XM_005272572.4:c.356+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272629.1:n.356+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537324"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 900,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 900,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009330",
      "geneNCBI_id": 10084,
      "geneSymbol": "PQBP1",
      "hgvs": [
        "XM_011543884.2:c.641+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542186.1:n.641+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555411"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 888,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 888,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009330",
      "geneNCBI_id": 10084,
      "geneSymbol": "PQBP1",
      "hgvs": [
        "XM_017029207.1:c.638+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884696.1:n.638+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578789"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 744,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 744,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009330",
      "geneNCBI_id": 10084,
      "geneSymbol": "PQBP1",
      "hgvs": [
        "NM_001032381.2:c.641+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001027553.1:n.641+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711506"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 812,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 812,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009330",
      "geneNCBI_id": 10084,
      "geneSymbol": "PQBP1",
      "hgvs": [
        "NM_001032382.2:c.641+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001027554.1:n.641+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711507",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000447146.7:c.641+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001032382.2:c.641+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000391759.2:n.641+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_001027554.1:n.641+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 823,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 823,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009330",
      "geneNCBI_id": 10084,
      "geneSymbol": "PQBP1",
      "hgvs": [
        "NM_001032383.2:c.641+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001027555.1:n.641+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711508"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 741,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 741,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009330",
      "geneNCBI_id": 10084,
      "geneSymbol": "PQBP1",
      "hgvs": [
        "NM_001167989.2:c.638+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161461.1:n.638+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713271"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 720,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 720,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009330",
      "geneNCBI_id": 10084,
      "geneSymbol": "PQBP1",
      "hgvs": [
        "NM_001167990.2:c.617+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161462.1:n.617+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713272"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 527,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 527,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009330",
      "geneNCBI_id": 10084,
      "geneSymbol": "PQBP1",
      "hgvs": [
        "NM_144495.3:c.356+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_652766.1:n.356+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729230"
    }
  ],
  "type": "nucleotide"
}