{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA382626090",
  "communityStandardTitle": [
    "NM_138789.4(PIH1D2):c.474C>G (p.Ser158Arg)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.111941835G>C?assembly=hg19",
        "id": "chr11:g.111941835G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.112071111G>C?assembly=hg38",
        "id": "chr11:g.112071111G>C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 112071111,
          "referenceAllele": "G",
          "start": 112071110
        }
      ],
      "hgvs": [
        "NC_000011.10:g.112071111G>C",
        "CM000673.2:g.112071111G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 111941835,
          "referenceAllele": "G",
          "start": 111941834
        }
      ],
      "hgvs": [
        "NC_000011.9:g.111941835G>C",
        "CM000673.1:g.111941835G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 111447045,
          "referenceAllele": "G",
          "start": 111447044
        }
      ],
      "hgvs": [
        "NC_000011.8:g.111447045G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 543,
          "referenceAllele": "C",
          "start": 542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025210",
      "geneNCBI_id": 120379,
      "geneSymbol": "PIH1D2",
      "hgvs": [
        "ENST00000280350.10:c.474C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000280350.4:p.Ser158Arg",
        "hgvsWellDefined": "ENSP00000280350.4:p.Ser158Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743559",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000280350.10:c.474C>G"
          },
          "RefSeq": {
            "hgvs": "NM_138789.4:c.474C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000280350.4:p.Ser158Arg"
          },
          "RefSeq": {
            "hgvs": "NP_620144.1:p.Ser158Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 546,
          "referenceAllele": "C",
          "start": 545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025210",
      "geneNCBI_id": 120379,
      "geneSymbol": "PIH1D2",
      "hgvs": [
        "ENST00000431456.6:c.474C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388209.1:p.Ser158Arg",
        "hgvsWellDefined": "ENSP00000388209.1:p.Ser158Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755366"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 589,
          "referenceAllele": "C",
          "start": 588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025210",
      "geneNCBI_id": 120379,
      "geneSymbol": "PIH1D2",
      "hgvs": [
        "ENST00000528775.6:c.474C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434275.1:p.Ser158Arg",
        "hgvsWellDefined": "ENSP00000434275.1:p.Ser158Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759096"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 574,
          "referenceAllele": "C",
          "start": 573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025210",
      "geneNCBI_id": 120379,
      "geneSymbol": "PIH1D2",
      "hgvs": [
        "ENST00000676994.1:c.474C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503801.1:p.Ser158Arg",
        "hgvsWellDefined": "ENSP00000503801.1:p.Ser158Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776663"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 697,
          "referenceAllele": "C",
          "start": 696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025210",
      "geneNCBI_id": 120379,
      "geneSymbol": "PIH1D2",
      "hgvs": [
        "ENST00000280350.8:c.474C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000280350.4:p.Ser158Arg",
        "hgvsWellDefined": "ENSP00000280350.4:p.Ser158Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252927"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 697,
          "referenceAllele": "C",
          "start": 696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025210",
      "geneNCBI_id": 120379,
      "geneSymbol": "PIH1D2",
      "hgvs": [
        "ENST00000431456.5:c.474C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388209.1:p.Ser158Arg",
        "hgvsWellDefined": "ENSP00000388209.1:p.Ser158Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291625"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 340,
          "referenceAllele": "C",
          "start": 339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025210",
      "geneNCBI_id": 120379,
      "geneSymbol": "PIH1D2",
      "hgvs": [
        "ENST00000525072.5:c.340C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS351148"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 369,
          "referenceAllele": "C",
          "start": 368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025210",
      "geneNCBI_id": 120379,
      "geneSymbol": "PIH1D2",
      "hgvs": [
        "ENST00000525744.1:c.369C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433297.1:p.Ser123Arg",
        "hgvsWellDefined": "ENSP00000433297.1:p.Ser123Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS351718"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 474,
          "referenceAllele": "C",
          "start": 473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025210",
      "geneNCBI_id": 120379,
      "geneSymbol": "PIH1D2",
      "hgvs": [
        "ENST00000528775.5:c.474C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434275.1:p.Ser158Arg",
        "hgvsWellDefined": "ENSP00000434275.1:p.Ser158Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS354264"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 800,
          "referenceAllele": "C",
          "start": 799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025210",
      "geneNCBI_id": 120379,
      "geneSymbol": "PIH1D2",
      "hgvs": [
        "ENST00000530641.5:c.474C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431147.1:p.Ser158Arg",
        "hgvsWellDefined": "ENSP00000431147.1:p.Ser158Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS355859"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 556,
          "referenceAllele": "C",
          "start": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025210",
      "geneNCBI_id": 120379,
      "geneSymbol": "PIH1D2",
      "hgvs": [
        "ENST00000532211.5:c.474C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431841.1:p.Ser158Arg",
        "hgvsWellDefined": "ENSP00000431841.1:p.Ser158Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS357185"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825484830",
      "coordinates": [
        {
          "allele": "G",
          "end": 697,
          "referenceAllele": "C",
          "start": 696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025210",
      "geneNCBI_id": 120379,
      "geneSymbol": "PIH1D2",
      "hgvs": [
        "NM_001082619.1:c.474C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001076088.1:p.Ser158Arg",
        "hgvsWellDefined": "NP_001076088.1:p.Ser158Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010370"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830265546",
      "coordinates": [
        {
          "allele": "G",
          "end": 697,
          "referenceAllele": "C",
          "start": 696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025210",
      "geneNCBI_id": 120379,
      "geneSymbol": "PIH1D2",
      "hgvs": [
        "NM_138789.3:c.474C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_620144.1:p.Ser158Arg",
        "hgvsWellDefined": "NP_620144.1:p.Ser158Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040877"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 596,
          "referenceAllele": "C",
          "start": 595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025210",
      "geneNCBI_id": 120379,
      "geneSymbol": "PIH1D2",
      "hgvs": [
        "XM_011542590.1:c.474C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011540892.1:p.Ser158Arg",
        "hgvsWellDefined": "XP_011540892.1:p.Ser158Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109521"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 595,
          "referenceAllele": "C",
          "start": 594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025210",
      "geneNCBI_id": 120379,
      "geneSymbol": "PIH1D2",
      "hgvs": [
        "XM_011542591.1:c.474C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011540893.1:p.Ser158Arg",
        "hgvsWellDefined": "XP_011540893.1:p.Ser158Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109522"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 595,
          "referenceAllele": "C",
          "start": 594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025210",
      "geneNCBI_id": 120379,
      "geneSymbol": "PIH1D2",
      "hgvs": [
        "XM_011542592.1:c.474C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011540894.1:p.Ser158Arg",
        "hgvsWellDefined": "XP_011540894.1:p.Ser158Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109523"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 592,
          "referenceAllele": "C",
          "start": 591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025210",
      "geneNCBI_id": 120379,
      "geneSymbol": "PIH1D2",
      "hgvs": [
        "XM_011542593.1:c.474C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011540895.1:p.Ser158Arg",
        "hgvsWellDefined": "XP_011540895.1:p.Ser158Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109524"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 594,
          "referenceAllele": "C",
          "start": 593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025210",
      "geneNCBI_id": 120379,
      "geneSymbol": "PIH1D2",
      "hgvs": [
        "XR_947792.1:n.594C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS141372"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 560,
          "referenceAllele": "C",
          "start": 559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025210",
      "geneNCBI_id": 120379,
      "geneSymbol": "PIH1D2",
      "hgvs": [
        "XM_017017201.2:c.474C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016872690.1:p.Ser158Arg",
        "hgvsWellDefined": "XP_016872690.1:p.Ser158Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569452"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 560,
          "referenceAllele": "C",
          "start": 559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025210",
      "geneNCBI_id": 120379,
      "geneSymbol": "PIH1D2",
      "hgvs": [
        "XM_017017202.2:c.474C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016872691.1:p.Ser158Arg",
        "hgvsWellDefined": "XP_016872691.1:p.Ser158Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569453"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 560,
          "referenceAllele": "C",
          "start": 559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025210",
      "geneNCBI_id": 120379,
      "geneSymbol": "PIH1D2",
      "hgvs": [
        "XM_017017203.2:c.474C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016872692.1:p.Ser158Arg",
        "hgvsWellDefined": "XP_016872692.1:p.Ser158Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569454"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 560,
          "referenceAllele": "C",
          "start": 559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025210",
      "geneNCBI_id": 120379,
      "geneSymbol": "PIH1D2",
      "hgvs": [
        "XM_017017204.2:c.474C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016872693.1:p.Ser158Arg",
        "hgvsWellDefined": "XP_016872693.1:p.Ser158Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569455"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 560,
          "referenceAllele": "C",
          "start": 559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025210",
      "geneNCBI_id": 120379,
      "geneSymbol": "PIH1D2",
      "hgvs": [
        "XM_017017205.2:c.474C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016872694.1:p.Ser158Arg",
        "hgvsWellDefined": "XP_016872694.1:p.Ser158Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569456"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 601,
          "referenceAllele": "C",
          "start": 600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025210",
      "geneNCBI_id": 120379,
      "geneSymbol": "PIH1D2",
      "hgvs": [
        "XM_024448349.1:c.474C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304117.1:p.Ser158Arg",
        "hgvsWellDefined": "XP_024304117.1:p.Ser158Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581922"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 599,
          "referenceAllele": "C",
          "start": 598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025210",
      "geneNCBI_id": 120379,
      "geneSymbol": "PIH1D2",
      "hgvs": [
        "XM_024448350.1:c.474C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304118.1:p.Ser158Arg",
        "hgvsWellDefined": "XP_024304118.1:p.Ser158Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581923"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825484830",
      "coordinates": [
        {
          "allele": "G",
          "end": 543,
          "referenceAllele": "C",
          "start": 542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025210",
      "geneNCBI_id": 120379,
      "geneSymbol": "PIH1D2",
      "hgvs": [
        "NM_001082619.2:c.474C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001076088.1:p.Ser158Arg",
        "hgvsWellDefined": "NP_001076088.1:p.Ser158Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711857"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830265546",
      "coordinates": [
        {
          "allele": "G",
          "end": 543,
          "referenceAllele": "C",
          "start": 542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025210",
      "geneNCBI_id": 120379,
      "geneSymbol": "PIH1D2",
      "hgvs": [
        "NM_138789.4:c.474C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_620144.1:p.Ser158Arg",
        "hgvsWellDefined": "NP_620144.1:p.Ser158Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729186",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000280350.10:c.474C>G"
          },
          "RefSeq": {
            "hgvs": "NM_138789.4:c.474C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000280350.4:p.Ser158Arg"
          },
          "RefSeq": {
            "hgvs": "NP_620144.1:p.Ser158Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}