{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA21244131",
  "communityStandardTitle": [
    "NM_022356.4(P3H1):c.1086C>T (p.Ala362=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=864427[alleleid]",
        "alleleId": 864427,
        "preferredName": "NM_022356.4(P3H1):c.1086C>T (p.Ala362=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/876580",
        "RCV": [
          "RCV001101546",
          "RCV001287271"
        ],
        "variationId": 876580
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.43221303G>A?assembly=hg19",
        "id": "chr1:g.43221303G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.42755632G>A?assembly=hg38",
        "id": "chr1:g.42755632G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/777090883",
        "rs": 777090883
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-43221303-G-A?dataset=gnomad_r2_1",
        "id": "1-43221303-G-A",
        "variant": "1:43221303 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-42755632-G-A?dataset=gnomad_r3",
        "id": "1-42755632-G-A",
        "variant": "1:42755632 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-42755632-G-A?dataset=gnomad_r4",
        "id": "1-42755632-G-A",
        "variant": "1:42755632 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 42755632,
          "referenceAllele": "G",
          "start": 42755631
        }
      ],
      "hgvs": [
        "NC_000001.11:g.42755632G>A",
        "CM000663.2:g.42755632G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 43221303,
          "referenceAllele": "G",
          "start": 43221302
        }
      ],
      "hgvs": [
        "NC_000001.10:g.43221303G>A",
        "CM000663.1:g.43221303G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 42993890,
          "referenceAllele": "G",
          "start": 42993889
        }
      ],
      "hgvs": [
        "NC_000001.9:g.42993890G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 16453,
          "referenceAllele": "C",
          "start": 16452
        }
      ],
      "hgvs": [
        "NG_008123.1:g.16453C>T",
        "LRG_5:g.16453C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000868"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1143,
          "referenceAllele": "C",
          "start": 1142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "ENST00000296388.10:c.1086C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000296388.5:p.Ala362="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744408",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000296388.10:c.1086C>T"
          },
          "RefSeq": {
            "hgvs": "NM_022356.4:c.1086C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000296388.5:p.Ala362="
          },
          "RefSeq": {
            "hgvs": "NP_071751.3:p.Ala362="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1127,
          "referenceAllele": "C",
          "start": 1126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "ENST00000236040.8:c.1086C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000236040.4:p.Ala362="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248959"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1138,
          "referenceAllele": "C",
          "start": 1137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "ENST00000296388.9:c.1086C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000296388.5:p.Ala362="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254287"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1199,
          "referenceAllele": "C",
          "start": 1198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "ENST00000397054.7:c.1086C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380245.3:p.Ala362="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277579"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1104,
          "referenceAllele": "C",
          "start": 1103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "ENST00000460031.5:n.1104C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS304863"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 575,
          "referenceAllele": "C",
          "start": 574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "ENST00000463465.1:n.575C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS307494"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1192,
          "referenceAllele": "C",
          "start": 1191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "ENST00000495874.5:n.1192C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS332482"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825929230",
      "coordinates": [
        {
          "allele": "T",
          "end": 1199,
          "referenceAllele": "C",
          "start": 1198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "NM_001146289.1:c.1086C>T",
        "LRG_5t2:c.1086C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001139761.1:p.Ala362="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013945"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826323641",
      "coordinates": [
        {
          "allele": "T",
          "end": 1199,
          "referenceAllele": "C",
          "start": 1198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "NM_001243246.1:c.1086C>T",
        "LRG_5t3:c.1086C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230175.1:p.Ala362="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018465"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829993158",
      "coordinates": [
        {
          "allele": "T",
          "end": 1199,
          "referenceAllele": "C",
          "start": 1198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "NM_022356.3:c.1086C>T",
        "LRG_5t1:c.1086C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_071751.3:p.Ala362="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037284"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 536,
          "referenceAllele": "C",
          "start": 535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "XM_005271110.2:c.78C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271167.1:p.Ala26="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066770"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 645,
          "referenceAllele": "C",
          "start": 644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "XM_011541947.1:c.111C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011540249.1:p.Ala37="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108881"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 591,
          "referenceAllele": "C",
          "start": 590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "XM_011541948.1:c.111C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011540250.1:p.Ala37="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108882"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 642,
          "referenceAllele": "C",
          "start": 641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "XM_011541949.1:c.108C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011540251.1:p.Ala36="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108883"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1143,
          "referenceAllele": "C",
          "start": 1142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "XR_946739.1:n.1143C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS140321"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1195,
          "referenceAllele": "C",
          "start": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "XM_017002051.2:c.111C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016857540.1:p.Ala37="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558080"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1157,
          "referenceAllele": "C",
          "start": 1156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "XM_017002052.2:c.108C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016857541.1:p.Ala36="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558081"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1143,
          "referenceAllele": "C",
          "start": 1142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "XR_946739.2:n.1143C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS614447"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829993158",
      "coordinates": [
        {
          "allele": "T",
          "end": 1143,
          "referenceAllele": "C",
          "start": 1142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "NM_022356.4:c.1086C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_071751.3:p.Ala362="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698530",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000296388.10:c.1086C>T"
          },
          "RefSeq": {
            "hgvs": "NM_022356.4:c.1086C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000296388.5:p.Ala362="
          },
          "RefSeq": {
            "hgvs": "NP_071751.3:p.Ala362="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825929230",
      "coordinates": [
        {
          "allele": "T",
          "end": 1143,
          "referenceAllele": "C",
          "start": 1142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "NM_001146289.2:c.1086C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001139761.1:p.Ala362="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712912"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826323641",
      "coordinates": [
        {
          "allele": "T",
          "end": 1143,
          "referenceAllele": "C",
          "start": 1142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "NM_001243246.2:c.1086C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230175.1:p.Ala362="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714457"
    }
  ],
  "type": "nucleotide"
}