{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2243492528",
  "communityStandardTitle": [
    "NM_000430.4(PAFAH1B1):c.1002+1G="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/113994203",
        "rs": 113994203
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 2676607,
          "referenceAllele": "G",
          "start": 2676606
        }
      ],
      "hgvs": [
        "NC_000017.11:g.2676607G=",
        "CM000679.2:g.2676607G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 2579901,
          "referenceAllele": "G",
          "start": 2579900
        }
      ],
      "hgvs": [
        "NC_000017.10:g.2579901G=",
        "CM000679.1:g.2579901G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 2526651,
          "referenceAllele": "G",
          "start": 2526650
        }
      ],
      "hgvs": [
        "NC_000017.9:g.2526651G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 87979,
          "referenceAllele": "G",
          "start": 87978
        }
      ],
      "hgvs": [
        "NG_009799.1:g.87979G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001647"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1545,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1545,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008574",
      "geneNCBI_id": 5048,
      "geneSymbol": "PAFAH1B1",
      "hgvs": [
        "ENST00000397195.10:c.1002+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380378.4:n.1002+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753617",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000397195.10:c.1002+1G="
          },
          "RefSeq": {
            "hgvs": "NM_000430.4:c.1002+1G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000380378.4:n.1002+1G="
          },
          "RefSeq": {
            "hgvs": "NP_000421.1:n.1002+1G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2087,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2087,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008574",
      "geneNCBI_id": 5048,
      "geneSymbol": "PAFAH1B1",
      "hgvs": [
        "ENST00000571495.2:n.2087+1G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760656"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1300,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1300,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008574",
      "geneNCBI_id": 5048,
      "geneSymbol": "PAFAH1B1",
      "hgvs": [
        "ENST00000674608.1:c.1056+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501976.1:n.1056+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774550"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1092,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1092,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008574",
      "geneNCBI_id": 5048,
      "geneSymbol": "PAFAH1B1",
      "hgvs": [
        "ENST00000674717.1:c.807+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501931.1:n.807+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774641"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 256,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 256,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008574",
      "geneNCBI_id": 5048,
      "geneSymbol": "PAFAH1B1",
      "hgvs": [
        "ENST00000675084.1:n.256+1G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774953"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1454,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1454,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008574",
      "geneNCBI_id": 5048,
      "geneSymbol": "PAFAH1B1",
      "hgvs": [
        "ENST00000675202.1:c.1002+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502843.1:n.1002+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775056"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1495,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1495,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008574",
      "geneNCBI_id": 5048,
      "geneSymbol": "PAFAH1B1",
      "hgvs": [
        "ENST00000675331.1:c.1002+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502031.1:n.1002+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775164"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 616,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 616,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008574",
      "geneNCBI_id": 5048,
      "geneSymbol": "PAFAH1B1",
      "hgvs": [
        "ENST00000675385.1:n.616+1G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775214"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1333,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1333,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008574",
      "geneNCBI_id": 5048,
      "geneSymbol": "PAFAH1B1",
      "hgvs": [
        "ENST00000675390.1:c.1002+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501969.1:n.1002+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775218"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4057,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4057,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008574",
      "geneNCBI_id": 5048,
      "geneSymbol": "PAFAH1B1",
      "hgvs": [
        "ENST00000675574.1:n.4057+1G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775374"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1257,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1257,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008574",
      "geneNCBI_id": 5048,
      "geneSymbol": "PAFAH1B1",
      "hgvs": [
        "ENST00000675621.1:c.1002+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502117.1:n.1002+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775414"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1347,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1347,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008574",
      "geneNCBI_id": 5048,
      "geneSymbol": "PAFAH1B1",
      "hgvs": [
        "ENST00000675764.1:c.*956+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502242.1:n.*956+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775538"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 921,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 921,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008574",
      "geneNCBI_id": 5048,
      "geneSymbol": "PAFAH1B1",
      "hgvs": [
        "ENST00000676077.1:c.*320+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502507.1:n.*320+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775812"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1319,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1319,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008574",
      "geneNCBI_id": 5048,
      "geneSymbol": "PAFAH1B1",
      "hgvs": [
        "ENST00000676098.1:c.1002+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502735.1:n.1002+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775829"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1260,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1260,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008574",
      "geneNCBI_id": 5048,
      "geneSymbol": "PAFAH1B1",
      "hgvs": [
        "ENST00000676188.1:c.1002+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502577.1:n.1002+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775907"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1167,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1167,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008574",
      "geneNCBI_id": 5048,
      "geneSymbol": "PAFAH1B1",
      "hgvs": [
        "ENST00000676353.1:c.807+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502737.1:n.807+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776045"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 810,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 810,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008574",
      "geneNCBI_id": 5048,
      "geneSymbol": "PAFAH1B1",
      "hgvs": [
        "ENST00000397193.7:n.810+1G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS277668"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1453,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1453,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008574",
      "geneNCBI_id": 5048,
      "geneSymbol": "PAFAH1B1",
      "hgvs": [
        "ENST00000397195.9:c.1002+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380378.4:n.1002+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277669"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 726,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 726,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008574",
      "geneNCBI_id": 5048,
      "geneSymbol": "PAFAH1B1",
      "hgvs": [
        "ENST00000571495.1:n.726+1G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS382530"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 676,
          "endIntronDirection": "+",
          "endIntronOffset": 2511,
          "referenceAllele": "G",
          "start": 676,
          "startIntronDirection": "+",
          "startIntronOffset": 2510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008574",
      "geneNCBI_id": 5048,
      "geneSymbol": "PAFAH1B1",
      "hgvs": [
        "ENST00000572915.6:n.676+2511G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS383096"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 396,
          "endIntronDirection": "+",
          "endIntronOffset": 2319,
          "referenceAllele": "G",
          "start": 396,
          "startIntronDirection": "+",
          "startIntronOffset": 2318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008574",
      "geneNCBI_id": 5048,
      "geneSymbol": "PAFAH1B1",
      "hgvs": [
        "ENST00000574468.1:c.396+2319G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460591.1:n.396+2319G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS383700"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 323,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 323,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008574",
      "geneNCBI_id": 5048,
      "geneSymbol": "PAFAH1B1",
      "hgvs": [
        "ENST00000574816.5:n.323+1G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS383844"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1570,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1570,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008574",
      "geneNCBI_id": 5048,
      "geneSymbol": "PAFAH1B1",
      "hgvs": [
        "NM_000430.3:c.1002+1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000421.1:n.1002+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006492"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1619,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1619,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008574",
      "geneNCBI_id": 5048,
      "geneSymbol": "PAFAH1B1",
      "hgvs": [
        "XM_011523901.1:c.1056+1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011522203.1:n.1056+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091034"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1451,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1451,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008574",
      "geneNCBI_id": 5048,
      "geneSymbol": "PAFAH1B1",
      "hgvs": [
        "XM_011523902.1:c.1056+1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011522204.1:n.1056+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091035"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1374,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1374,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008574",
      "geneNCBI_id": 5048,
      "geneSymbol": "PAFAH1B1",
      "hgvs": [
        "XM_011523903.1:c.1056+1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011522205.1:n.1056+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091036"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1285,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1285,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008574",
      "geneNCBI_id": 5048,
      "geneSymbol": "PAFAH1B1",
      "hgvs": [
        "XM_011523901.2:c.1056+1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011522203.1:n.1056+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547235"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1446,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1446,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008574",
      "geneNCBI_id": 5048,
      "geneSymbol": "PAFAH1B1",
      "hgvs": [
        "XM_011523902.3:c.1056+1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011522204.1:n.1056+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547236"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1369,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1369,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008574",
      "geneNCBI_id": 5048,
      "geneSymbol": "PAFAH1B1",
      "hgvs": [
        "XM_011523903.2:c.1056+1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011522205.1:n.1056+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547237"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1313,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1313,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008574",
      "geneNCBI_id": 5048,
      "geneSymbol": "PAFAH1B1",
      "hgvs": [
        "XM_017024701.1:c.1002+1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016880190.1:n.1002+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575202"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1146,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1146,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008574",
      "geneNCBI_id": 5048,
      "geneSymbol": "PAFAH1B1",
      "hgvs": [
        "XM_017024702.2:c.807+1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016880191.1:n.807+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575203"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1545,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1545,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008574",
      "geneNCBI_id": 5048,
      "geneSymbol": "PAFAH1B1",
      "hgvs": [
        "NM_000430.4:c.1002+1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000421.1:n.1002+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662440",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000397195.10:c.1002+1G="
          },
          "RefSeq": {
            "hgvs": "NM_000430.4:c.1002+1G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000380378.4:n.1002+1G="
          },
          "RefSeq": {
            "hgvs": "NP_000421.1:n.1002+1G="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}