{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA802238",
  "communityStandardTitle": [
    "NM_022356.4(P3H1):c.81G>C (p.Glu27Asp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=515997[alleleid]",
        "alleleId": 515997,
        "preferredName": "NM_022356.4(P3H1):c.81G>C (p.Glu27Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/536820",
        "RCV": [
          "RCV000645496",
          "RCV001097864",
          "RCV001731837",
          "RCV002279466"
        ],
        "variationId": 536820
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-43232562-C-G",
        "id": "1-43232562-C-G",
        "variant": "1:43232562 C / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.43232562C>G?assembly=hg19",
        "id": "chr1:g.43232562C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.42766891C>G?assembly=hg38",
        "id": "chr1:g.42766891C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/201750444",
        "rs": 201750444
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-43232562-C-G?dataset=gnomad_r2_1",
        "id": "1-43232562-C-G",
        "variant": "1:43232562 C / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-42766891-C-G?dataset=gnomad_r3",
        "id": "1-42766891-C-G",
        "variant": "1:42766891 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-42766891-C-G?dataset=gnomad_r4",
        "id": "1-42766891-C-G",
        "variant": "1:42766891 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 42766891,
          "referenceAllele": "C",
          "start": 42766890
        }
      ],
      "hgvs": [
        "NC_000001.11:g.42766891C>G",
        "CM000663.2:g.42766891C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 43232562,
          "referenceAllele": "C",
          "start": 43232561
        }
      ],
      "hgvs": [
        "NC_000001.10:g.43232562C>G",
        "CM000663.1:g.43232562C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 43005149,
          "referenceAllele": "C",
          "start": 43005148
        }
      ],
      "hgvs": [
        "NC_000001.9:g.43005149C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5194,
          "referenceAllele": "G",
          "start": 5193
        }
      ],
      "hgvs": [
        "NG_008123.1:g.5194G>C",
        "LRG_5:g.5194G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000868"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 138,
          "referenceAllele": "G",
          "start": 137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "ENST00000296388.10:c.81G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000296388.5:p.Glu27Asp",
        "hgvsWellDefined": "ENSP00000296388.5:p.Glu27Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744408",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000296388.10:c.81G>C"
          },
          "RefSeq": {
            "hgvs": "NM_022356.4:c.81G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000296388.5:p.Glu27Asp"
          },
          "RefSeq": {
            "hgvs": "NP_071751.3:p.Glu27Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 122,
          "referenceAllele": "G",
          "start": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "ENST00000236040.8:c.81G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000236040.4:p.Glu27Asp",
        "hgvsWellDefined": "ENSP00000236040.4:p.Glu27Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248959"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 133,
          "referenceAllele": "G",
          "start": 132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "ENST00000296388.9:c.81G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000296388.5:p.Glu27Asp",
        "hgvsWellDefined": "ENSP00000296388.5:p.Glu27Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254287"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 112,
          "referenceAllele": "G",
          "start": 111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "ENST00000372526.2:c.81G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361604.2:p.Glu27Asp",
        "hgvsWellDefined": "ENSP00000361604.2:p.Glu27Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269156"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 194,
          "referenceAllele": "G",
          "start": 193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "ENST00000397054.7:c.81G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380245.3:p.Glu27Asp",
        "hgvsWellDefined": "ENSP00000380245.3:p.Glu27Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277579"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 99,
          "referenceAllele": "G",
          "start": 98
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "ENST00000460031.5:n.99G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS304863"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 127,
          "referenceAllele": "G",
          "start": 126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "ENST00000492956.1:n.127G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS330220"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 132,
          "referenceAllele": "G",
          "start": 131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "ENST00000495874.5:n.132G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS332482"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825929007",
      "coordinates": [
        {
          "allele": "C",
          "end": 194,
          "referenceAllele": "G",
          "start": 193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "NM_001146289.1:c.81G>C",
        "LRG_5t2:c.81G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001139761.1:p.Glu27Asp",
        "hgvsWellDefined": "NP_001139761.1:p.Glu27Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013945"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826323417",
      "coordinates": [
        {
          "allele": "C",
          "end": 194,
          "referenceAllele": "G",
          "start": 193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "NM_001243246.1:c.81G>C",
        "LRG_5t3:c.81G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230175.1:p.Glu27Asp",
        "hgvsWellDefined": "NP_001230175.1:p.Glu27Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018465"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658808857",
      "coordinates": [
        {
          "allele": "C",
          "end": 194,
          "referenceAllele": "G",
          "start": 193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "NM_022356.3:c.81G>C",
        "LRG_5t1:c.81G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_071751.3:p.Glu27Asp",
        "hgvsWellDefined": "NP_071751.3:p.Glu27Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037284"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 138,
          "referenceAllele": "G",
          "start": 137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "XR_946739.1:n.138G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS140321"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 135,
          "referenceAllele": "G",
          "start": 134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "XM_017002051.2:c.-950G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016857540.1:n.-950G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558080"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 100,
          "referenceAllele": "G",
          "start": 99
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "XM_017002052.2:c.-950G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016857541.1:n.-950G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558081"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 138,
          "referenceAllele": "G",
          "start": 137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "XR_946739.2:n.138G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS614447"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658808857",
      "coordinates": [
        {
          "allele": "C",
          "end": 138,
          "referenceAllele": "G",
          "start": 137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "NM_022356.4:c.81G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_071751.3:p.Glu27Asp",
        "hgvsWellDefined": "NP_071751.3:p.Glu27Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698530",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000296388.10:c.81G>C"
          },
          "RefSeq": {
            "hgvs": "NM_022356.4:c.81G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000296388.5:p.Glu27Asp"
          },
          "RefSeq": {
            "hgvs": "NP_071751.3:p.Glu27Asp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825929007",
      "coordinates": [
        {
          "allele": "C",
          "end": 138,
          "referenceAllele": "G",
          "start": 137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "NM_001146289.2:c.81G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001139761.1:p.Glu27Asp",
        "hgvsWellDefined": "NP_001139761.1:p.Glu27Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712912"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826323417",
      "coordinates": [
        {
          "allele": "C",
          "end": 138,
          "referenceAllele": "G",
          "start": 137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "NM_001243246.2:c.81G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230175.1:p.Glu27Asp",
        "hgvsWellDefined": "NP_001230175.1:p.Glu27Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714457"
    }
  ],
  "type": "nucleotide"
}