{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA507679065",
  "communityStandardTitle": [
    "NM_181882.3(PRX):c.2509C>T (p.Leu837=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=882046[alleleid]",
        "alleleId": 882046,
        "preferredName": "NM_181882.3(PRX):c.2509C>T (p.Leu837=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/894681",
        "RCV": [
          "RCV001136101",
          "RCV001437118"
        ],
        "variationId": 894681
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.40901750G>A?assembly=hg19",
        "id": "chr19:g.40901750G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.40395843G>A?assembly=hg38",
        "id": "chr19:g.40395843G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1177784082",
        "rs": 1177784082
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-40395843-G-A?dataset=gnomad_r3",
        "id": "19-40395843-G-A",
        "variant": "19:40395843 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-40395843-G-A?dataset=gnomad_r4",
        "id": "19-40395843-G-A",
        "variant": "19:40395843 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 40395843,
          "referenceAllele": "G",
          "start": 40395842
        }
      ],
      "hgvs": [
        "NC_000019.10:g.40395843G>A",
        "CM000681.2:g.40395843G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 40901750,
          "referenceAllele": "G",
          "start": 40901749
        }
      ],
      "hgvs": [
        "NC_000019.9:g.40901750G>A",
        "CM000681.1:g.40901750G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 45593590,
          "referenceAllele": "G",
          "start": 45593589
        }
      ],
      "hgvs": [
        "NC_000019.8:g.45593590G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 22522,
          "referenceAllele": "C",
          "start": 22521
        }
      ],
      "hgvs": [
        "NG_007979.1:g.22522C>T",
        "LRG_265:g.22522C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000747"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2792,
          "referenceAllele": "C",
          "start": 2791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013797",
      "geneNCBI_id": 57716,
      "geneSymbol": "PRX",
      "hgvs": [
        "ENST00000324001.8:c.2509C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326018.6:p.Leu837="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746601",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000324001.8:c.2509C>T"
          },
          "RefSeq": {
            "hgvs": "NM_181882.3:c.2509C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000326018.6:p.Leu837="
          },
          "RefSeq": {
            "hgvs": "NP_870998.2:p.Leu837="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2908,
          "referenceAllele": "C",
          "start": 2907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013797",
      "geneNCBI_id": 57716,
      "geneSymbol": "PRX",
      "hgvs": [
        "ENST00000673881.1:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501070.1:p.Leu698="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773939"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2845,
          "referenceAllele": "C",
          "start": 2844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013797",
      "geneNCBI_id": 57716,
      "geneSymbol": "PRX",
      "hgvs": [
        "ENST00000674005.2:c.2794C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501261.1:p.Leu932="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774039"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2358,
          "referenceAllele": "C",
          "start": 2357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013797",
      "geneNCBI_id": 57716,
      "geneSymbol": "PRX",
      "hgvs": [
        "ENST00000674773.1:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502579.1:p.Leu698="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774689"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2384,
          "referenceAllele": "C",
          "start": 2383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013797",
      "geneNCBI_id": 57716,
      "geneSymbol": "PRX",
      "hgvs": [
        "ENST00000675517.1:c.2384C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775326"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2370,
          "referenceAllele": "C",
          "start": 2369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013797",
      "geneNCBI_id": 57716,
      "geneSymbol": "PRX",
      "hgvs": [
        "ENST00000676076.1:c.2370C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775811"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2471,
          "referenceAllele": "C",
          "start": 2470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013797",
      "geneNCBI_id": 57716,
      "geneSymbol": "PRX",
      "hgvs": [
        "ENST00000676260.1:c.2471C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775970"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2396,
          "referenceAllele": "C",
          "start": 2395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013797",
      "geneNCBI_id": 57716,
      "geneSymbol": "PRX",
      "hgvs": [
        "ENST00000676316.1:c.2396C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3427,
          "referenceAllele": "C",
          "start": 3426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013797",
      "geneNCBI_id": 57716,
      "geneSymbol": "PRX",
      "hgvs": [
        "ENST00000291825.11:c.*2714C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000291825.6:n.*2714C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253765"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2780,
          "referenceAllele": "C",
          "start": 2779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013797",
      "geneNCBI_id": 57716,
      "geneSymbol": "PRX",
      "hgvs": [
        "ENST00000324001.7:c.2509C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326018.6:p.Leu837="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258283"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3427,
          "referenceAllele": "C",
          "start": 3426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013797",
      "geneNCBI_id": 57716,
      "geneSymbol": "PRX",
      "hgvs": [
        "NM_020956.2:c.*2714C>T",
        "LRG_265t1:c.*2714C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_066007.1:n.*2714C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036720"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830406969",
      "coordinates": [
        {
          "allele": "T",
          "end": 2778,
          "referenceAllele": "C",
          "start": 2777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013797",
      "geneNCBI_id": 57716,
      "geneSymbol": "PRX",
      "hgvs": [
        "NM_181882.2:c.2509C>T",
        "LRG_265t2:c.2509C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_870998.2:p.Leu837="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043920"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2770,
          "referenceAllele": "C",
          "start": 2769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013797",
      "geneNCBI_id": 57716,
      "geneSymbol": "PRX",
      "hgvs": [
        "XM_011527171.1:c.2509C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525473.1:p.Leu837="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094265"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2770,
          "referenceAllele": "C",
          "start": 2769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013797",
      "geneNCBI_id": 57716,
      "geneSymbol": "PRX",
      "hgvs": [
        "XM_011527171.2:c.2509C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525473.1:p.Leu837="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548559"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2929,
          "referenceAllele": "C",
          "start": 2928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013797",
      "geneNCBI_id": 57716,
      "geneSymbol": "PRX",
      "hgvs": [
        "XM_017027046.1:c.2407C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016882535.1:p.Leu803="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577044"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2472,
          "referenceAllele": "C",
          "start": 2471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013797",
      "geneNCBI_id": 57716,
      "geneSymbol": "PRX",
      "hgvs": [
        "XM_017027047.1:c.2407C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016882536.1:p.Leu803="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577045"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830406969",
      "coordinates": [
        {
          "allele": "T",
          "end": 2792,
          "referenceAllele": "C",
          "start": 2791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013797",
      "geneNCBI_id": 57716,
      "geneSymbol": "PRX",
      "hgvs": [
        "NM_181882.3:c.2509C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_870998.2:p.Leu837="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701039",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000324001.8:c.2509C>T"
          },
          "RefSeq": {
            "hgvs": "NM_181882.3:c.2509C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000326018.6:p.Leu837="
          },
          "RefSeq": {
            "hgvs": "NP_870998.2:p.Leu837="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}