{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA9726077",
  "communityStandardTitle": [
    "NM_006814.5(PSMF1):c.467G>A (p.Arg156Gln)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2207398[alleleid]",
        "alleleId": 2207398,
        "preferredName": "NM_006814.5(PSMF1):c.467G>A (p.Arg156Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2221380",
        "RCV": [
          "RCV004088098"
        ],
        "variationId": 2221380
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/20-1115865-G-A",
        "id": "20-1115865-G-A",
        "variant": "20:1115865 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.1115865G>A?assembly=hg19",
        "id": "chr20:g.1115865G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.1135222G>A?assembly=hg38",
        "id": "chr20:g.1135222G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/200994349",
        "rs": 200994349
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-1115865-G-A?dataset=gnomad_r2_1",
        "id": "20-1115865-G-A",
        "variant": "20:1115865 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-1135222-G-A?dataset=gnomad_r3",
        "id": "20-1135222-G-A",
        "variant": "20:1135222 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-1135222-G-A?dataset=gnomad_r4",
        "id": "20-1135222-G-A",
        "variant": "20:1135222 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "A",
          "end": 1135222,
          "referenceAllele": "G",
          "start": 1135221
        }
      ],
      "hgvs": [
        "NC_000020.11:g.1135222G>A",
        "CM000682.2:g.1135222G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "A",
          "end": 1115865,
          "referenceAllele": "G",
          "start": 1115864
        }
      ],
      "hgvs": [
        "NC_000020.10:g.1115865G>A",
        "CM000682.1:g.1115865G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "A",
          "end": 1063865,
          "referenceAllele": "G",
          "start": 1063864
        }
      ],
      "hgvs": [
        "NC_000020.9:g.1063865G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 639,
          "referenceAllele": "G",
          "start": 638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009571",
      "geneNCBI_id": 9491,
      "geneSymbol": "PSMF1",
      "hgvs": [
        "ENST00000335877.11:c.467G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338039.6:p.Arg156Gln",
        "hgvsWellDefined": "ENSP00000338039.6:p.Arg156Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747535",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000335877.11:c.467G>A"
          },
          "RefSeq": {
            "hgvs": "NM_006814.5:c.467G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000338039.6:p.Arg156Gln"
          },
          "RefSeq": {
            "hgvs": "NP_006805.2:p.Arg156Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 658,
          "referenceAllele": "G",
          "start": 657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009571",
      "geneNCBI_id": 9491,
      "geneSymbol": "PSMF1",
      "hgvs": [
        "ENST00000652336.1:c.467G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499011.1:p.Arg156Gln",
        "hgvsWellDefined": "ENSP00000499011.1:p.Arg156Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772149"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 643,
          "referenceAllele": "G",
          "start": 642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009571",
      "geneNCBI_id": 9491,
      "geneSymbol": "PSMF1",
      "hgvs": [
        "ENST00000246015.8:c.467G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000246015.4:p.Arg156Gln",
        "hgvsWellDefined": "ENSP00000246015.4:p.Arg156Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249420"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 635,
          "referenceAllele": "G",
          "start": 634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009571",
      "geneNCBI_id": 9491,
      "geneSymbol": "PSMF1",
      "hgvs": [
        "ENST00000333082.7:c.467G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000327704.3:p.Arg156Gln",
        "hgvsWellDefined": "ENSP00000327704.3:p.Arg156Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259668"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 643,
          "referenceAllele": "G",
          "start": 642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009571",
      "geneNCBI_id": 9491,
      "geneSymbol": "PSMF1",
      "hgvs": [
        "ENST00000335877.10:c.467G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338039.6:p.Arg156Gln",
        "hgvsWellDefined": "ENSP00000338039.6:p.Arg156Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260211"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 620,
          "referenceAllele": "G",
          "start": 619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009571",
      "geneNCBI_id": 9491,
      "geneSymbol": "PSMF1",
      "hgvs": [
        "ENST00000381899.8:c.467G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371324.4:p.Arg156Gln",
        "hgvsWellDefined": "ENSP00000371324.4:p.Arg156Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273545"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 45,
          "referenceAllele": "G",
          "start": 44
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009571",
      "geneNCBI_id": 9491,
      "geneSymbol": "PSMF1",
      "hgvs": [
        "ENST00000435720.5:c.45G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS293635"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 548,
          "referenceAllele": "G",
          "start": 547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009571",
      "geneNCBI_id": 9491,
      "geneSymbol": "PSMF1",
      "hgvs": [
        "ENST00000478004.1:n.548G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS318699"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 442,
          "referenceAllele": "G",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009571",
      "geneNCBI_id": 9491,
      "geneSymbol": "PSMF1",
      "hgvs": [
        "ENST00000479715.5:n.442G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS320024"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 383,
          "referenceAllele": "G",
          "start": 382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009571",
      "geneNCBI_id": 9491,
      "geneSymbol": "PSMF1",
      "hgvs": [
        "ENST00000484891.1:n.383G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324047"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829661744",
      "coordinates": [
        {
          "allele": "A",
          "end": 644,
          "referenceAllele": "G",
          "start": 643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009571",
      "geneNCBI_id": 9491,
      "geneSymbol": "PSMF1",
      "hgvs": [
        "NM_006814.3:c.467G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_006805.2:p.Arg156Gln",
        "hgvsWellDefined": "NP_006805.2:p.Arg156Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031795"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830380630",
      "coordinates": [
        {
          "allele": "A",
          "end": 635,
          "referenceAllele": "G",
          "start": 634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009571",
      "geneNCBI_id": 9491,
      "geneSymbol": "PSMF1",
      "hgvs": [
        "NM_178578.2:c.467G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_848693.2:p.Arg156Gln",
        "hgvsWellDefined": "NP_848693.2:p.Arg156Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043601"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 646,
          "referenceAllele": "G",
          "start": 645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009571",
      "geneNCBI_id": 9491,
      "geneSymbol": "PSMF1",
      "hgvs": [
        "XM_005260873.2:c.467G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005260930.1:p.Arg156Gln",
        "hgvsWellDefined": "XP_005260930.1:p.Arg156Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062957"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 488,
          "referenceAllele": "G",
          "start": 487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009571",
      "geneNCBI_id": 9491,
      "geneSymbol": "PSMF1",
      "hgvs": [
        "XM_005260874.2:c.467G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005260931.1:p.Arg156Gln",
        "hgvsWellDefined": "XP_005260931.1:p.Arg156Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062958"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 488,
          "referenceAllele": "G",
          "start": 487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009571",
      "geneNCBI_id": 9491,
      "geneSymbol": "PSMF1",
      "hgvs": [
        "XM_006723664.2:c.467G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723727.1:p.Arg156Gln",
        "hgvsWellDefined": "XP_006723727.1:p.Arg156Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075153"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580214909",
      "coordinates": [
        {
          "allele": "A",
          "end": 519,
          "referenceAllele": "G",
          "start": 518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009571",
      "geneNCBI_id": 9491,
      "geneSymbol": "PSMF1",
      "hgvs": [
        "NM_001323407.1:c.203G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310336.1:p.Arg68Gln",
        "hgvsWellDefined": "NP_001310336.1:p.Arg68Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515395"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827189346",
      "coordinates": [
        {
          "allele": "A",
          "end": 648,
          "referenceAllele": "G",
          "start": 647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009571",
      "geneNCBI_id": 9491,
      "geneSymbol": "PSMF1",
      "hgvs": [
        "NM_001323408.1:c.467G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310337.1:p.Arg156Gln",
        "hgvsWellDefined": "NP_001310337.1:p.Arg156Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515396"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827189367",
      "coordinates": [
        {
          "allele": "A",
          "end": 648,
          "referenceAllele": "G",
          "start": 647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009571",
      "geneNCBI_id": 9491,
      "geneSymbol": "PSMF1",
      "hgvs": [
        "NM_001323409.1:c.467G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310338.1:p.Arg156Gln",
        "hgvsWellDefined": "NP_001310338.1:p.Arg156Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515397"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827189389",
      "coordinates": [
        {
          "allele": "A",
          "end": 648,
          "referenceAllele": "G",
          "start": 647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009571",
      "geneNCBI_id": 9491,
      "geneSymbol": "PSMF1",
      "hgvs": [
        "NM_001323410.1:c.467G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310339.1:p.Arg156Gln",
        "hgvsWellDefined": "NP_001310339.1:p.Arg156Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515398"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829661744",
      "coordinates": [
        {
          "allele": "A",
          "end": 648,
          "referenceAllele": "G",
          "start": 647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009571",
      "geneNCBI_id": 9491,
      "geneSymbol": "PSMF1",
      "hgvs": [
        "NM_006814.4:c.467G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_006805.2:p.Arg156Gln",
        "hgvsWellDefined": "NP_006805.2:p.Arg156Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525430"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830380630",
      "coordinates": [
        {
          "allele": "A",
          "end": 669,
          "referenceAllele": "G",
          "start": 668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009571",
      "geneNCBI_id": 9491,
      "geneSymbol": "PSMF1",
      "hgvs": [
        "NM_178578.3:c.467G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_848693.2:p.Arg156Gln",
        "hgvsWellDefined": "NP_848693.2:p.Arg156Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526849"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 514,
          "referenceAllele": "G",
          "start": 513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009571",
      "geneNCBI_id": 9491,
      "geneSymbol": "PSMF1",
      "hgvs": [
        "XM_024452019.1:c.203G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307787.1:p.Arg68Gln",
        "hgvsWellDefined": "XP_024307787.1:p.Arg68Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585525"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829661744",
      "coordinates": [
        {
          "allele": "A",
          "end": 639,
          "referenceAllele": "G",
          "start": 638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009571",
      "geneNCBI_id": 9491,
      "geneSymbol": "PSMF1",
      "hgvs": [
        "NM_006814.5:c.467G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_006805.2:p.Arg156Gln",
        "hgvsWellDefined": "NP_006805.2:p.Arg156Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667635",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000335877.11:c.467G>A"
          },
          "RefSeq": {
            "hgvs": "NM_006814.5:c.467G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000338039.6:p.Arg156Gln"
          },
          "RefSeq": {
            "hgvs": "NP_006805.2:p.Arg156Gln"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580214909",
      "coordinates": [
        {
          "allele": "A",
          "end": 485,
          "referenceAllele": "G",
          "start": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009571",
      "geneNCBI_id": 9491,
      "geneSymbol": "PSMF1",
      "hgvs": [
        "NM_001323407.2:c.203G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310336.1:p.Arg68Gln",
        "hgvsWellDefined": "NP_001310336.1:p.Arg68Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686003"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827189346",
      "coordinates": [
        {
          "allele": "A",
          "end": 639,
          "referenceAllele": "G",
          "start": 638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009571",
      "geneNCBI_id": 9491,
      "geneSymbol": "PSMF1",
      "hgvs": [
        "NM_001323408.2:c.467G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310337.1:p.Arg156Gln",
        "hgvsWellDefined": "NP_001310337.1:p.Arg156Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686004"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827189367",
      "coordinates": [
        {
          "allele": "A",
          "end": 639,
          "referenceAllele": "G",
          "start": 638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009571",
      "geneNCBI_id": 9491,
      "geneSymbol": "PSMF1",
      "hgvs": [
        "NM_001323409.2:c.467G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310338.1:p.Arg156Gln",
        "hgvsWellDefined": "NP_001310338.1:p.Arg156Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686005"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827189389",
      "coordinates": [
        {
          "allele": "A",
          "end": 639,
          "referenceAllele": "G",
          "start": 638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009571",
      "geneNCBI_id": 9491,
      "geneSymbol": "PSMF1",
      "hgvs": [
        "NM_001323410.2:c.467G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310339.1:p.Arg156Gln",
        "hgvsWellDefined": "NP_001310339.1:p.Arg156Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686006"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830380630",
      "coordinates": [
        {
          "allele": "A",
          "end": 635,
          "referenceAllele": "G",
          "start": 634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009571",
      "geneNCBI_id": 9491,
      "geneSymbol": "PSMF1",
      "hgvs": [
        "NM_178578.4:c.467G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_848693.2:p.Arg156Gln",
        "hgvsWellDefined": "NP_848693.2:p.Arg156Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729697"
    }
  ],
  "type": "nucleotide"
}