{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA302662",
  "communityStandardTitle": [
    "NM_005859.5(PURA):c.419G>C (p.Arg140Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=190128[alleleid]",
        "alleleId": 190128,
        "preferredName": "NM_005859.5(PURA):c.419G>C (p.Arg140Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/192343",
        "RCV": [
          "RCV000172938",
          "RCV001852104"
        ],
        "variationId": 192343
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.139494185G>C?assembly=hg19",
        "id": "chr5:g.139494185G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.140114600G>C?assembly=hg38",
        "id": "chr5:g.140114600G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/793888536",
        "rs": 793888536
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-140114600-G-C?dataset=gnomad_r4",
        "id": "5-140114600-G-C",
        "variant": "5:140114600 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 140114600,
          "referenceAllele": "G",
          "start": 140114599
        }
      ],
      "hgvs": [
        "NC_000005.10:g.140114600G>C",
        "CM000667.2:g.140114600G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 139494185,
          "referenceAllele": "G",
          "start": 139494184
        }
      ],
      "hgvs": [
        "NC_000005.9:g.139494185G>C",
        "CM000667.1:g.139494185G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 139474369,
          "referenceAllele": "G",
          "start": 139474368
        }
      ],
      "hgvs": [
        "NC_000005.8:g.139474369G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5478,
          "referenceAllele": "G",
          "start": 5477
        }
      ],
      "hgvs": [
        "NG_041813.1:g.5478G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005883"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 492,
          "referenceAllele": "G",
          "start": 491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009701",
      "geneNCBI_id": 5813,
      "geneSymbol": "PURA",
      "hgvs": [
        "ENST00000331327.5:c.419G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332706.3:p.Arg140Pro",
        "hgvsWellDefined": "ENSP00000332706.3:p.Arg140Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747144",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331327.5:c.419G>C"
          },
          "RefSeq": {
            "hgvs": "NM_005859.5:c.419G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332706.3:p.Arg140Pro"
          },
          "RefSeq": {
            "hgvs": "NP_005850.1:p.Arg140Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 965,
          "referenceAllele": "G",
          "start": 964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009701",
      "geneNCBI_id": 5813,
      "geneSymbol": "PURA",
      "hgvs": [
        "ENST00000651386.1:c.419G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499133.1:p.Arg140Pro",
        "hgvsWellDefined": "ENSP00000499133.1:p.Arg140Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771640"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 478,
          "referenceAllele": "G",
          "start": 477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009701",
      "geneNCBI_id": 5813,
      "geneSymbol": "PURA",
      "hgvs": [
        "ENST00000331327.4:c.419G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332706.3:p.Arg140Pro",
        "hgvsWellDefined": "ENSP00000332706.3:p.Arg140Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259383"
    },
    {
      "@id": "http://reg.genome.network/allele/PA302663",
      "coordinates": [
        {
          "allele": "C",
          "end": 478,
          "referenceAllele": "G",
          "start": 477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009701",
      "geneNCBI_id": 5813,
      "geneSymbol": "PURA",
      "hgvs": [
        "NM_005859.4:c.419G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005850.1:p.Arg140Pro",
        "hgvsWellDefined": "NP_005850.1:p.Arg140Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030918"
    },
    {
      "@id": "http://reg.genome.network/allele/PA302663",
      "coordinates": [
        {
          "allele": "C",
          "end": 492,
          "referenceAllele": "G",
          "start": 491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009701",
      "geneNCBI_id": 5813,
      "geneSymbol": "PURA",
      "hgvs": [
        "NM_005859.5:c.419G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005850.1:p.Arg140Pro",
        "hgvsWellDefined": "NP_005850.1:p.Arg140Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696545",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331327.5:c.419G>C"
          },
          "RefSeq": {
            "hgvs": "NM_005859.5:c.419G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332706.3:p.Arg140Pro"
          },
          "RefSeq": {
            "hgvs": "NP_005850.1:p.Arg140Pro"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}