{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8041391",
  "communityStandardTitle": [
    "NM_000293.3(PHKB):c.2995G>A (p.Val999Ile)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM4714075"
      },
      {
        "active": false,
        "id": "COSM4714077"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=843879[alleleid]",
        "alleleId": 843879,
        "preferredName": "NM_000293.3(PHKB):c.2995G>A (p.Val999Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/839029",
        "RCV": [
          "RCV001040703",
          "RCV002553069"
        ],
        "variationId": 839029
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-47730391-G-A",
        "id": "16-47730391-G-A",
        "variant": "16:47730391 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.47730391G>A?assembly=hg19",
        "id": "chr16:g.47730391G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.47696480G>A?assembly=hg38",
        "id": "chr16:g.47696480G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/375389167",
        "rs": 375389167
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-47730391-G-A?dataset=gnomad_r2_1",
        "id": "16-47730391-G-A",
        "variant": "16:47730391 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-47696480-G-A?dataset=gnomad_r3",
        "id": "16-47696480-G-A",
        "variant": "16:47696480 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-47696480-G-A?dataset=gnomad_r4",
        "id": "16-47696480-G-A",
        "variant": "16:47696480 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 47696480,
          "referenceAllele": "G",
          "start": 47696479
        }
      ],
      "hgvs": [
        "NC_000016.10:g.47696480G>A",
        "CM000678.2:g.47696480G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 47730391,
          "referenceAllele": "G",
          "start": 47730390
        }
      ],
      "hgvs": [
        "NC_000016.9:g.47730391G>A",
        "CM000678.1:g.47730391G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 46287892,
          "referenceAllele": "G",
          "start": 46287891
        }
      ],
      "hgvs": [
        "NC_000016.8:g.46287892G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 240182,
          "referenceAllele": "G",
          "start": 240181
        }
      ],
      "hgvs": [
        "NG_016598.1:g.240182G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003224"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3215,
          "referenceAllele": "G",
          "start": 3214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "ENST00000696809.1:c.*1569G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512887.1:n.*1569G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908253"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3233,
          "referenceAllele": "G",
          "start": 3232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "ENST00000699276.1:c.*623G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514257.1:n.*623G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910216"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3015,
          "referenceAllele": "G",
          "start": 3014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "ENST00000323584.10:c.2995G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000313504.5:p.Val999Ile",
        "hgvsWellDefined": "ENSP00000313504.5:p.Val999Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746571",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000323584.10:c.2995G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000293.3:c.2995G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000313504.5:p.Val999Ile"
          },
          "RefSeq": {
            "hgvs": "NP_000284.1:p.Val999Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3020,
          "referenceAllele": "G",
          "start": 3019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "ENST00000299167.12:c.2995G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299167.8:p.Val999Ile",
        "hgvsWellDefined": "ENSP00000299167.8:p.Val999Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254676"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3019,
          "referenceAllele": "G",
          "start": 3018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "ENST00000323584.9:c.2995G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000313504.5:p.Val999Ile",
        "hgvsWellDefined": "ENSP00000313504.5:p.Val999Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258228"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9,
          "referenceAllele": "G",
          "start": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "ENST00000564711.2:c.9G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS378273"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3163,
          "referenceAllele": "G",
          "start": 3162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "ENST00000566044.5:c.2974G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456729.1:p.Val992Ile",
        "hgvsWellDefined": "ENSP00000456729.1:p.Val992Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379145"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1811,
          "referenceAllele": "G",
          "start": 1810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "ENST00000566319.2:n.1811G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS379353"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825108102",
      "coordinates": [
        {
          "allele": "A",
          "end": 3047,
          "referenceAllele": "G",
          "start": 3046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "NM_000293.2:c.2995G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000284.1:p.Val999Ile",
        "hgvsWellDefined": "NP_000284.1:p.Val999Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006354"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825357376",
      "coordinates": [
        {
          "allele": "A",
          "end": 3159,
          "referenceAllele": "G",
          "start": 3158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "NM_001031835.2:c.2974G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001027005.1:p.Val992Ile",
        "hgvsWellDefined": "NP_001027005.1:p.Val992Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009041"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3010,
          "referenceAllele": "G",
          "start": 3009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "XM_005255983.3:c.2995G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256040.1:p.Val999Ile",
        "hgvsWellDefined": "XP_005256040.1:p.Val999Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061111"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3173,
          "referenceAllele": "G",
          "start": 3172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "XM_005255984.3:c.2974G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256041.1:p.Val992Ile",
        "hgvsWellDefined": "XP_005256041.1:p.Val992Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061112"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1697,
          "referenceAllele": "G",
          "start": 1696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "XM_011523107.1:c.1573G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521409.1:p.Val525Ile",
        "hgvsWellDefined": "XP_011521409.1:p.Val525Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090247"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139742163",
      "coordinates": [
        {
          "allele": "A",
          "end": 3047,
          "referenceAllele": "G",
          "start": 3046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "NM_001363837.1:c.2995G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350766.1:p.Val999Ile",
        "hgvsWellDefined": "NP_001350766.1:p.Val999Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523593"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3010,
          "referenceAllele": "G",
          "start": 3009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "XM_005255983.4:c.2995G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256040.1:p.Val999Ile",
        "hgvsWellDefined": "XP_005256040.1:p.Val999Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534361"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3310,
          "referenceAllele": "G",
          "start": 3309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "XM_005255984.4:c.2974G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256041.1:p.Val992Ile",
        "hgvsWellDefined": "XP_005256041.1:p.Val992Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534362"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2304,
          "referenceAllele": "G",
          "start": 2303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "XM_017023282.1:c.1882G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878771.1:p.Val628Ile",
        "hgvsWellDefined": "XP_016878771.1:p.Val628Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574072"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3215,
          "referenceAllele": "G",
          "start": 3214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "XM_017023283.1:c.1573G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878772.1:p.Val525Ile",
        "hgvsWellDefined": "XP_016878772.1:p.Val525Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574073"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3096,
          "referenceAllele": "G",
          "start": 3095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "XM_017023284.1:c.1573G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878773.1:p.Val525Ile",
        "hgvsWellDefined": "XP_016878773.1:p.Val525Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574074"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2919,
          "referenceAllele": "G",
          "start": 2918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "XR_001751913.1:n.2919G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598701"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825108102",
      "coordinates": [
        {
          "allele": "A",
          "end": 3015,
          "referenceAllele": "G",
          "start": 3014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "NM_000293.3:c.2995G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000284.1:p.Val999Ile",
        "hgvsWellDefined": "NP_000284.1:p.Val999Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662390",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000323584.10:c.2995G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000293.3:c.2995G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000313504.5:p.Val999Ile"
          },
          "RefSeq": {
            "hgvs": "NP_000284.1:p.Val999Ile"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825357376",
      "coordinates": [
        {
          "allele": "A",
          "end": 3127,
          "referenceAllele": "G",
          "start": 3126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "NM_001031835.3:c.2974G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001027005.1:p.Val992Ile",
        "hgvsWellDefined": "NP_001027005.1:p.Val992Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675749"
    }
  ],
  "type": "nucleotide"
}