{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA802228",
  "communityStandardTitle": [
    "NM_022356.4(P3H1):c.139G>T (p.Ala47Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=365092[alleleid]",
        "alleleId": 365092,
        "preferredName": "NM_022356.4(P3H1):c.139G>T (p.Ala47Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/379443",
        "RCV": [
          "RCV000432456",
          "RCV000551291",
          "RCV001097863",
          "RCV002278659"
        ],
        "variationId": 379443
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-43232504-C-A",
        "id": "1-43232504-C-A",
        "variant": "1:43232504 C / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.43232504C>A?assembly=hg19",
        "id": "chr1:g.43232504C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.42766833C>A?assembly=hg38",
        "id": "chr1:g.42766833C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/55716016",
        "rs": 55716016
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-43232504-C-A?dataset=gnomad_r2_1",
        "id": "1-43232504-C-A",
        "variant": "1:43232504 C / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-42766833-C-A?dataset=gnomad_r3",
        "id": "1-42766833-C-A",
        "variant": "1:42766833 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-42766833-C-A?dataset=gnomad_r4",
        "id": "1-42766833-C-A",
        "variant": "1:42766833 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 42766833,
          "referenceAllele": "C",
          "start": 42766832
        }
      ],
      "hgvs": [
        "NC_000001.11:g.42766833C>A",
        "CM000663.2:g.42766833C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 43232504,
          "referenceAllele": "C",
          "start": 43232503
        }
      ],
      "hgvs": [
        "NC_000001.10:g.43232504C>A",
        "CM000663.1:g.43232504C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 43005091,
          "referenceAllele": "C",
          "start": 43005090
        }
      ],
      "hgvs": [
        "NC_000001.9:g.43005091C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5252,
          "referenceAllele": "G",
          "start": 5251
        }
      ],
      "hgvs": [
        "NG_008123.1:g.5252G>T",
        "LRG_5:g.5252G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000868"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 196,
          "referenceAllele": "G",
          "start": 195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "ENST00000296388.10:c.139G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000296388.5:p.Ala47Ser",
        "hgvsWellDefined": "ENSP00000296388.5:p.Ala47Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744408",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000296388.10:c.139G>T"
          },
          "RefSeq": {
            "hgvs": "NM_022356.4:c.139G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000296388.5:p.Ala47Ser"
          },
          "RefSeq": {
            "hgvs": "NP_071751.3:p.Ala47Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 180,
          "referenceAllele": "G",
          "start": 179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "ENST00000236040.8:c.139G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000236040.4:p.Ala47Ser",
        "hgvsWellDefined": "ENSP00000236040.4:p.Ala47Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248959"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 191,
          "referenceAllele": "G",
          "start": 190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "ENST00000296388.9:c.139G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000296388.5:p.Ala47Ser",
        "hgvsWellDefined": "ENSP00000296388.5:p.Ala47Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254287"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 170,
          "referenceAllele": "G",
          "start": 169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "ENST00000372526.2:c.139G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361604.2:p.Ala47Ser",
        "hgvsWellDefined": "ENSP00000361604.2:p.Ala47Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269156"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 252,
          "referenceAllele": "G",
          "start": 251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "ENST00000397054.7:c.139G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380245.3:p.Ala47Ser",
        "hgvsWellDefined": "ENSP00000380245.3:p.Ala47Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277579"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 157,
          "referenceAllele": "G",
          "start": 156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "ENST00000460031.5:n.157G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS304863"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 185,
          "referenceAllele": "G",
          "start": 184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "ENST00000492956.1:n.185G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS330220"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 190,
          "referenceAllele": "G",
          "start": 189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "ENST00000495874.5:n.190G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS332482"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825929018",
      "coordinates": [
        {
          "allele": "T",
          "end": 252,
          "referenceAllele": "G",
          "start": 251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "NM_001146289.1:c.139G>T",
        "LRG_5t2:c.139G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001139761.1:p.Ala47Ser",
        "hgvsWellDefined": "NP_001139761.1:p.Ala47Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013945"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826323429",
      "coordinates": [
        {
          "allele": "T",
          "end": 252,
          "referenceAllele": "G",
          "start": 251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "NM_001243246.1:c.139G>T",
        "LRG_5t3:c.139G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230175.1:p.Ala47Ser",
        "hgvsWellDefined": "NP_001230175.1:p.Ala47Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018465"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645426017",
      "coordinates": [
        {
          "allele": "T",
          "end": 252,
          "referenceAllele": "G",
          "start": 251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "NM_022356.3:c.139G>T",
        "LRG_5t1:c.139G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_071751.3:p.Ala47Ser",
        "hgvsWellDefined": "NP_071751.3:p.Ala47Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037284"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 196,
          "referenceAllele": "G",
          "start": 195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "XR_946739.1:n.196G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS140321"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 193,
          "referenceAllele": "G",
          "start": 192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "XM_017002051.2:c.-892G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016857540.1:n.-892G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558080"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 158,
          "referenceAllele": "G",
          "start": 157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "XM_017002052.2:c.-892G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016857541.1:n.-892G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558081"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 196,
          "referenceAllele": "G",
          "start": 195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "XR_946739.2:n.196G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS614447"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645426017",
      "coordinates": [
        {
          "allele": "T",
          "end": 196,
          "referenceAllele": "G",
          "start": 195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "NM_022356.4:c.139G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_071751.3:p.Ala47Ser",
        "hgvsWellDefined": "NP_071751.3:p.Ala47Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698530",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000296388.10:c.139G>T"
          },
          "RefSeq": {
            "hgvs": "NM_022356.4:c.139G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000296388.5:p.Ala47Ser"
          },
          "RefSeq": {
            "hgvs": "NP_071751.3:p.Ala47Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825929018",
      "coordinates": [
        {
          "allele": "T",
          "end": 196,
          "referenceAllele": "G",
          "start": 195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "NM_001146289.2:c.139G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001139761.1:p.Ala47Ser",
        "hgvsWellDefined": "NP_001139761.1:p.Ala47Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712912"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826323429",
      "coordinates": [
        {
          "allele": "T",
          "end": 196,
          "referenceAllele": "G",
          "start": 195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "NM_001243246.2:c.139G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230175.1:p.Ala47Ser",
        "hgvsWellDefined": "NP_001230175.1:p.Ala47Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714457"
    }
  ],
  "type": "nucleotide"
}