{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8041089",
  "communityStandardTitle": [
    "NM_000293.3(PHKB):c.2196+14A>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=341538[alleleid]",
        "alleleId": 341538,
        "preferredName": "NM_000293.3(PHKB):c.2196+14A>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/319354",
        "RCV": [
          "RCV000369410"
        ],
        "variationId": 319354
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-47694744-A-G",
        "id": "16-47694744-A-G",
        "variant": "16:47694744 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.47694744A>G?assembly=hg19",
        "id": "chr16:g.47694744A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.47660833A>G?assembly=hg38",
        "id": "chr16:g.47660833A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/751084282",
        "rs": 751084282
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-47694744-A-G?dataset=gnomad_r2_1",
        "id": "16-47694744-A-G",
        "variant": "16:47694744 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-47660833-A-G?dataset=gnomad_r3",
        "id": "16-47660833-A-G",
        "variant": "16:47660833 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-47660833-A-G?dataset=gnomad_r4",
        "id": "16-47660833-A-G",
        "variant": "16:47660833 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 47660833,
          "referenceAllele": "A",
          "start": 47660832
        }
      ],
      "hgvs": [
        "NC_000016.10:g.47660833A>G",
        "CM000678.2:g.47660833A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 47694744,
          "referenceAllele": "A",
          "start": 47694743
        }
      ],
      "hgvs": [
        "NC_000016.9:g.47694744A>G",
        "CM000678.1:g.47694744A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 46252245,
          "referenceAllele": "A",
          "start": 46252244
        }
      ],
      "hgvs": [
        "NC_000016.8:g.46252245A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 204535,
          "referenceAllele": "A",
          "start": 204534
        }
      ],
      "hgvs": [
        "NG_016598.1:g.204535A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003224"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2416,
          "endIntronDirection": "+",
          "endIntronOffset": 14,
          "referenceAllele": "A",
          "start": 2416,
          "startIntronDirection": "+",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "ENST00000696809.1:c.*770+14A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512887.1:n.*770+14A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908253"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2343,
          "endIntronDirection": "+",
          "endIntronOffset": 14,
          "referenceAllele": "A",
          "start": 2343,
          "startIntronDirection": "+",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "ENST00000699276.1:c.2175+14A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514257.1:n.2175+14A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910216"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2216,
          "endIntronDirection": "+",
          "endIntronOffset": 14,
          "referenceAllele": "A",
          "start": 2216,
          "startIntronDirection": "+",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "ENST00000323584.10:c.2196+14A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000313504.5:n.2196+14A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746571",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000323584.10:c.2196+14A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000293.3:c.2196+14A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000313504.5:n.2196+14A>G"
          },
          "RefSeq": {
            "hgvs": "NP_000284.1:n.2196+14A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2221,
          "endIntronDirection": "+",
          "endIntronOffset": 14,
          "referenceAllele": "A",
          "start": 2221,
          "startIntronDirection": "+",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "ENST00000299167.12:c.2196+14A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299167.8:n.2196+14A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254676"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2220,
          "endIntronDirection": "+",
          "endIntronOffset": 14,
          "referenceAllele": "A",
          "start": 2220,
          "startIntronDirection": "+",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "ENST00000323584.9:c.2196+14A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000313504.5:n.2196+14A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258228"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2364,
          "endIntronDirection": "+",
          "endIntronOffset": 14,
          "referenceAllele": "A",
          "start": 2364,
          "startIntronDirection": "+",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "ENST00000566044.5:c.2175+14A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456729.1:n.2175+14A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379145"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 117,
          "endIntronDirection": "+",
          "endIntronOffset": 14,
          "referenceAllele": "A",
          "start": 117,
          "startIntronDirection": "+",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "ENST00000566275.2:c.117+14A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459287.1:n.117+14A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379322"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 317,
          "endIntronDirection": "+",
          "endIntronOffset": 14,
          "referenceAllele": "A",
          "start": 317,
          "startIntronDirection": "+",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "ENST00000568171.1:n.317+14A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS380593"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2248,
          "endIntronDirection": "+",
          "endIntronOffset": 14,
          "referenceAllele": "A",
          "start": 2248,
          "startIntronDirection": "+",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "NM_000293.2:c.2196+14A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000284.1:n.2196+14A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006354"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2360,
          "endIntronDirection": "+",
          "endIntronOffset": 14,
          "referenceAllele": "A",
          "start": 2360,
          "startIntronDirection": "+",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "NM_001031835.2:c.2175+14A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001027005.1:n.2175+14A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009041"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2211,
          "endIntronDirection": "+",
          "endIntronOffset": 14,
          "referenceAllele": "A",
          "start": 2211,
          "startIntronDirection": "+",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "XM_005255983.3:c.2196+14A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256040.1:n.2196+14A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061111"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2374,
          "endIntronDirection": "+",
          "endIntronOffset": 14,
          "referenceAllele": "A",
          "start": 2374,
          "startIntronDirection": "+",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "XM_005255984.3:c.2175+14A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256041.1:n.2175+14A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061112"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2211,
          "endIntronDirection": "+",
          "endIntronOffset": 14,
          "referenceAllele": "A",
          "start": 2211,
          "startIntronDirection": "+",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "XM_011523106.1:c.2196+14A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521408.1:n.2196+14A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090246"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 898,
          "endIntronDirection": "+",
          "endIntronOffset": 14,
          "referenceAllele": "A",
          "start": 898,
          "startIntronDirection": "+",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "XM_011523107.1:c.774+14A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521409.1:n.774+14A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090247"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2248,
          "endIntronDirection": "+",
          "endIntronOffset": 14,
          "referenceAllele": "A",
          "start": 2248,
          "startIntronDirection": "+",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "NM_001363837.1:c.2196+14A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350766.1:n.2196+14A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523593"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2211,
          "endIntronDirection": "+",
          "endIntronOffset": 14,
          "referenceAllele": "A",
          "start": 2211,
          "startIntronDirection": "+",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "XM_005255983.4:c.2196+14A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256040.1:n.2196+14A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534361"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2511,
          "endIntronDirection": "+",
          "endIntronOffset": 14,
          "referenceAllele": "A",
          "start": 2511,
          "startIntronDirection": "+",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "XM_005255984.4:c.2175+14A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256041.1:n.2175+14A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534362"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1505,
          "endIntronDirection": "+",
          "endIntronOffset": 14,
          "referenceAllele": "A",
          "start": 1505,
          "startIntronDirection": "+",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "XM_017023282.1:c.1083+14A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878771.1:n.1083+14A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574072"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2416,
          "endIntronDirection": "+",
          "endIntronOffset": 14,
          "referenceAllele": "A",
          "start": 2416,
          "startIntronDirection": "+",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "XM_017023283.1:c.774+14A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878772.1:n.774+14A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574073"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2297,
          "endIntronDirection": "+",
          "endIntronOffset": 14,
          "referenceAllele": "A",
          "start": 2297,
          "startIntronDirection": "+",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "XM_017023284.1:c.774+14A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878773.1:n.774+14A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574074"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2211,
          "endIntronDirection": "+",
          "endIntronOffset": 14,
          "referenceAllele": "A",
          "start": 2211,
          "startIntronDirection": "+",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "XR_001751913.1:n.2211+14A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598701"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2216,
          "endIntronDirection": "+",
          "endIntronOffset": 14,
          "referenceAllele": "A",
          "start": 2216,
          "startIntronDirection": "+",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "NM_000293.3:c.2196+14A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000284.1:n.2196+14A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662390",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000323584.10:c.2196+14A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000293.3:c.2196+14A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000313504.5:n.2196+14A>G"
          },
          "RefSeq": {
            "hgvs": "NP_000284.1:n.2196+14A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2328,
          "endIntronDirection": "+",
          "endIntronOffset": 14,
          "referenceAllele": "A",
          "start": 2328,
          "startIntronDirection": "+",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "NM_001031835.3:c.2175+14A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001027005.1:n.2175+14A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675749"
    }
  ],
  "type": "nucleotide"
}