{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA114317",
  "communityStandardTitle": [
    "NM_000317.3(PTS):c.46C>T (p.Arg16Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15516[alleleid]",
        "alleleId": 15516,
        "preferredName": "NM_000317.3(PTS):c.46C>T (p.Arg16Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/477",
        "RCV": [
          "RCV000000506",
          "RCV000778305"
        ],
        "variationId": 477
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-112097212-C-T",
        "id": "11-112097212-C-T",
        "variant": "11:112097212 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.112097212C>T?assembly=hg19",
        "id": "chr11:g.112097212C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.112226489C>T?assembly=hg38",
        "id": "chr11:g.112226489C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894274",
        "rs": 104894274
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-112097212-C-T?dataset=gnomad_r2_1",
        "id": "11-112097212-C-T",
        "variant": "11:112097212 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-112226489-C-T?dataset=gnomad_r3",
        "id": "11-112226489-C-T",
        "variant": "11:112226489 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-112226489-C-T?dataset=gnomad_r4",
        "id": "11-112226489-C-T",
        "variant": "11:112226489 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 112226489,
          "referenceAllele": "C",
          "start": 112226488
        }
      ],
      "hgvs": [
        "NC_000011.10:g.112226489C>T",
        "CM000673.2:g.112226489C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 112097212,
          "referenceAllele": "C",
          "start": 112097211
        }
      ],
      "hgvs": [
        "NC_000011.9:g.112097212C>T",
        "CM000673.1:g.112097212C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 111602422,
          "referenceAllele": "C",
          "start": 111602421
        }
      ],
      "hgvs": [
        "NC_000011.8:g.111602422C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5125,
          "referenceAllele": "C",
          "start": 5124
        }
      ],
      "hgvs": [
        "NG_008743.1:g.5125C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001195"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 62,
          "referenceAllele": "C",
          "start": 61
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009689",
      "geneNCBI_id": 5805,
      "geneSymbol": "PTS",
      "hgvs": [
        "ENST00000280362.8:c.46C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000280362.3:p.Arg16Cys",
        "hgvsWellDefined": "ENSP00000280362.3:p.Arg16Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743562",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000280362.8:c.46C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000317.3:c.46C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000280362.3:p.Arg16Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000308.1:p.Arg16Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 125,
          "referenceAllele": "C",
          "start": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009689",
      "geneNCBI_id": 5805,
      "geneSymbol": "PTS",
      "hgvs": [
        "ENST00000280362.7:c.46C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000280362.3:p.Arg16Cys",
        "hgvsWellDefined": "ENSP00000280362.3:p.Arg16Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252929"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 121,
          "referenceAllele": "C",
          "start": 120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009689",
      "geneNCBI_id": 5805,
      "geneSymbol": "PTS",
      "hgvs": [
        "ENST00000525645.1:n.121C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS351635"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 58,
          "referenceAllele": "C",
          "start": 57
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009689",
      "geneNCBI_id": 5805,
      "geneSymbol": "PTS",
      "hgvs": [
        "ENST00000525803.1:c.46C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431750.1:p.Arg16Cys",
        "hgvsWellDefined": "ENSP00000431750.1:p.Arg16Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS351772"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 123,
          "referenceAllele": "C",
          "start": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009689",
      "geneNCBI_id": 5805,
      "geneSymbol": "PTS",
      "hgvs": [
        "ENST00000528679.5:c.46C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435895.1:p.Arg16Cys",
        "hgvsWellDefined": "ENSP00000435895.1:p.Arg16Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS354184"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 102,
          "referenceAllele": "C",
          "start": 101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009689",
      "geneNCBI_id": 5805,
      "geneSymbol": "PTS",
      "hgvs": [
        "ENST00000531673.5:c.46C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433469.1:p.Arg16Cys",
        "hgvsWellDefined": "ENSP00000433469.1:p.Arg16Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS356730"
    },
    {
      "@id": "http://reg.genome.network/allele/PA113103",
      "coordinates": [
        {
          "allele": "T",
          "end": 125,
          "referenceAllele": "C",
          "start": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009689",
      "geneNCBI_id": 5805,
      "geneSymbol": "PTS",
      "hgvs": [
        "NM_000317.2:c.46C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000308.1:p.Arg16Cys",
        "hgvsWellDefined": "NP_000308.1:p.Arg16Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006381"
    },
    {
      "@id": "http://reg.genome.network/allele/PA113103",
      "coordinates": [
        {
          "allele": "T",
          "end": 62,
          "referenceAllele": "C",
          "start": 61
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009689",
      "geneNCBI_id": 5805,
      "geneSymbol": "PTS",
      "hgvs": [
        "NM_000317.3:c.46C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000308.1:p.Arg16Cys",
        "hgvsWellDefined": "NP_000308.1:p.Arg16Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662400",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000280362.8:c.46C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000317.3:c.46C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000280362.3:p.Arg16Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000308.1:p.Arg16Cys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}