{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA346934380",
  "communityStandardTitle": [
    "NM_033109.5(PNPT1):c.760C>G (p.Gln254Glu)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.55900134G>C?assembly=hg19",
        "id": "chr2:g.55900134G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.55672999G>C?assembly=hg38",
        "id": "chr2:g.55672999G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/778100619",
        "rs": 778100619
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-55672999-G-C?dataset=gnomad_r4",
        "id": "2-55672999-G-C",
        "variant": "2:55672999 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 55672999,
          "referenceAllele": "G",
          "start": 55672998
        }
      ],
      "hgvs": [
        "NC_000002.12:g.55672999G>C",
        "CM000664.2:g.55672999G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 55900134,
          "referenceAllele": "G",
          "start": 55900133
        }
      ],
      "hgvs": [
        "NC_000002.11:g.55900134G>C",
        "CM000664.1:g.55900134G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 55753638,
          "referenceAllele": "G",
          "start": 55753637
        }
      ],
      "hgvs": [
        "NC_000002.10:g.55753638G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 25912,
          "referenceAllele": "C",
          "start": 25911
        }
      ],
      "hgvs": [
        "NG_033012.1:g.25912C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005349"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 781,
          "referenceAllele": "C",
          "start": 780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023166",
      "geneNCBI_id": 87178,
      "geneSymbol": "PNPT1",
      "hgvs": [
        "ENST00000447944.7:c.760C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400646.2:p.Gln254Glu",
        "hgvsWellDefined": "ENSP00000400646.2:p.Gln254Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756149",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000447944.7:c.760C>G"
          },
          "RefSeq": {
            "hgvs": "NM_033109.5:c.760C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000400646.2:p.Gln254Glu"
          },
          "RefSeq": {
            "hgvs": "NP_149100.2:p.Gln254Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 874,
          "referenceAllele": "C",
          "start": 873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023166",
      "geneNCBI_id": 87178,
      "geneSymbol": "PNPT1",
      "hgvs": [
        "ENST00000260604.8:c.*315C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000260604.4:n.*315C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250614"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 760,
          "referenceAllele": "C",
          "start": 759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023166",
      "geneNCBI_id": 87178,
      "geneSymbol": "PNPT1",
      "hgvs": [
        "ENST00000415374.5:c.760C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393953.1:p.Gln254Glu",
        "hgvsWellDefined": "ENSP00000393953.1:p.Gln254Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283955"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 847,
          "referenceAllele": "C",
          "start": 846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023166",
      "geneNCBI_id": 87178,
      "geneSymbol": "PNPT1",
      "hgvs": [
        "ENST00000447944.6:c.760C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400646.2:p.Gln254Glu",
        "hgvsWellDefined": "ENSP00000400646.2:p.Gln254Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299498"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3067086509",
      "coordinates": [
        {
          "allele": "G",
          "end": 847,
          "referenceAllele": "C",
          "start": 846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023166",
      "geneNCBI_id": 87178,
      "geneSymbol": "PNPT1",
      "hgvs": [
        "NM_033109.4:c.760C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_149100.2:p.Gln254Glu",
        "hgvsWellDefined": "NP_149100.2:p.Gln254Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039532"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 777,
          "referenceAllele": "C",
          "start": 776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023166",
      "geneNCBI_id": 87178,
      "geneSymbol": "PNPT1",
      "hgvs": [
        "XM_005264629.1:c.520C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264686.1:p.Gln174Glu",
        "hgvsWellDefined": "XP_005264686.1:p.Gln174Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064316"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 790,
          "referenceAllele": "C",
          "start": 789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023166",
      "geneNCBI_id": 87178,
      "geneSymbol": "PNPT1",
      "hgvs": [
        "XM_011533142.1:c.760C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531444.1:p.Gln254Glu",
        "hgvsWellDefined": "XP_011531444.1:p.Gln254Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100167"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 777,
          "referenceAllele": "C",
          "start": 776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023166",
      "geneNCBI_id": 87178,
      "geneSymbol": "PNPT1",
      "hgvs": [
        "XM_005264629.2:c.520C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264686.1:p.Gln174Glu",
        "hgvsWellDefined": "XP_005264686.1:p.Gln174Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535915"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 727,
          "referenceAllele": "C",
          "start": 726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023166",
      "geneNCBI_id": 87178,
      "geneSymbol": "PNPT1",
      "hgvs": [
        "XM_017005172.1:c.520C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860661.1:p.Gln174Glu",
        "hgvsWellDefined": "XP_016860661.1:p.Gln174Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560513"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 790,
          "referenceAllele": "C",
          "start": 789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023166",
      "geneNCBI_id": 87178,
      "geneSymbol": "PNPT1",
      "hgvs": [
        "XR_001739010.1:n.790C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589423"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3067086509",
      "coordinates": [
        {
          "allele": "G",
          "end": 781,
          "referenceAllele": "C",
          "start": 780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023166",
      "geneNCBI_id": 87178,
      "geneSymbol": "PNPT1",
      "hgvs": [
        "NM_033109.5:c.760C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_149100.2:p.Gln254Glu",
        "hgvsWellDefined": "NP_149100.2:p.Gln254Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671499",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000447944.7:c.760C>G"
          },
          "RefSeq": {
            "hgvs": "NM_033109.5:c.760C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000400646.2:p.Gln254Glu"
          },
          "RefSeq": {
            "hgvs": "NP_149100.2:p.Gln254Glu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}