{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA397090614",
  "communityStandardTitle": [
    "NM_000485.3(APRT):c.82G>C (p.Asp28His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=975997[alleleid]",
        "alleleId": 975997,
        "preferredName": "NM_000485.3(APRT):c.82G>C (p.Asp28His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/988035",
        "RCV": [
          "RCV001269427"
        ],
        "variationId": 988035
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.88878063C>G?assembly=hg19",
        "id": "chr16:g.88878063C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.88811655C>G?assembly=hg38",
        "id": "chr16:g.88811655C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1909147057",
        "rs": 1909147057
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-88811655-C-G?dataset=gnomad_r4",
        "id": "16-88811655-C-G",
        "variant": "16:88811655 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 88811655,
          "referenceAllele": "C",
          "start": 88811654
        }
      ],
      "hgvs": [
        "NC_000016.10:g.88811655C>G",
        "CM000678.2:g.88811655C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 88878063,
          "referenceAllele": "C",
          "start": 88878062
        }
      ],
      "hgvs": [
        "NC_000016.9:g.88878063C>G",
        "CM000678.1:g.88878063C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 87405564,
          "referenceAllele": "C",
          "start": 87405563
        }
      ],
      "hgvs": [
        "NC_000016.8:g.87405564C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5280,
          "referenceAllele": "G",
          "start": 5279
        }
      ],
      "hgvs": [
        "NG_008013.1:g.5280G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000773"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 111,
          "referenceAllele": "G",
          "start": 110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000626",
      "geneNCBI_id": 353,
      "geneSymbol": "APRT",
      "hgvs": [
        "ENST00000378364.8:c.82G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367615.3:p.Asp28His",
        "hgvsWellDefined": "ENSP00000367615.3:p.Asp28His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752072",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378364.8:c.82G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000485.3:c.82G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367615.3:p.Asp28His"
          },
          "RefSeq": {
            "hgvs": "NP_000476.1:p.Asp28His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 127,
          "referenceAllele": "G",
          "start": 126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000626",
      "geneNCBI_id": 353,
      "geneSymbol": "APRT",
      "hgvs": [
        "ENST00000378364.7:c.82G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367615.3:p.Asp28His",
        "hgvsWellDefined": "ENSP00000367615.3:p.Asp28His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271999"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 108,
          "referenceAllele": "G",
          "start": 107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000626",
      "geneNCBI_id": 353,
      "geneSymbol": "APRT",
      "hgvs": [
        "ENST00000426324.6:c.82G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397007.2:p.Asp28His",
        "hgvsWellDefined": "ENSP00000397007.2:p.Asp28His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289167"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 226,
          "referenceAllele": "G",
          "start": 225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000626",
      "geneNCBI_id": 353,
      "geneSymbol": "APRT",
      "hgvs": [
        "ENST00000562464.1:n.226G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS376813"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 103,
          "referenceAllele": "G",
          "start": 102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000626",
      "geneNCBI_id": 353,
      "geneSymbol": "APRT",
      "hgvs": [
        "ENST00000563655.5:c.82G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456012.1:p.Asp28His",
        "hgvsWellDefined": "ENSP00000456012.1:p.Asp28His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS377567"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 103,
          "referenceAllele": "G",
          "start": 102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000626",
      "geneNCBI_id": 353,
      "geneSymbol": "APRT",
      "hgvs": [
        "ENST00000564858.1:n.103G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS378377"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 111,
          "referenceAllele": "G",
          "start": 110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000626",
      "geneNCBI_id": 353,
      "geneSymbol": "APRT",
      "hgvs": [
        "ENST00000567391.5:c.82G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457964.1:p.Asp28His",
        "hgvsWellDefined": "ENSP00000457964.1:p.Asp28His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380081"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 106,
          "referenceAllele": "G",
          "start": 105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000626",
      "geneNCBI_id": 353,
      "geneSymbol": "APRT",
      "hgvs": [
        "ENST00000567713.5:c.82G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455749.1:p.Asp28His",
        "hgvsWellDefined": "ENSP00000455749.1:p.Asp28His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380303"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 120,
          "referenceAllele": "G",
          "start": 119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000626",
      "geneNCBI_id": 353,
      "geneSymbol": "APRT",
      "hgvs": [
        "ENST00000568319.5:c.82G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456905.1:p.Asp28His",
        "hgvsWellDefined": "ENSP00000456905.1:p.Asp28His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380698"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 80,
          "referenceAllele": "G",
          "start": 79
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000626",
      "geneNCBI_id": 353,
      "geneSymbol": "APRT",
      "hgvs": [
        "ENST00000569616.1:c.80G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS381593"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825187631",
      "coordinates": [
        {
          "allele": "C",
          "end": 117,
          "referenceAllele": "G",
          "start": 116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000626",
      "geneNCBI_id": 353,
      "geneSymbol": "APRT",
      "hgvs": [
        "NM_000485.2:c.82G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000476.1:p.Asp28His",
        "hgvsWellDefined": "NP_000476.1:p.Asp28His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006539"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139672377",
      "coordinates": [
        {
          "allele": "C",
          "end": 117,
          "referenceAllele": "G",
          "start": 116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000626",
      "geneNCBI_id": 353,
      "geneSymbol": "APRT",
      "hgvs": [
        "NM_001030018.1:c.82G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001025189.1:p.Asp28His",
        "hgvsWellDefined": "NP_001025189.1:p.Asp28His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008958"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825187631",
      "coordinates": [
        {
          "allele": "C",
          "end": 111,
          "referenceAllele": "G",
          "start": 110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000626",
      "geneNCBI_id": 353,
      "geneSymbol": "APRT",
      "hgvs": [
        "NM_000485.3:c.82G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000476.1:p.Asp28His",
        "hgvsWellDefined": "NP_000476.1:p.Asp28His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674864",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378364.8:c.82G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000485.3:c.82G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367615.3:p.Asp28His"
          },
          "RefSeq": {
            "hgvs": "NP_000476.1:p.Asp28His"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139672377",
      "coordinates": [
        {
          "allele": "C",
          "end": 111,
          "referenceAllele": "G",
          "start": 110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000626",
      "geneNCBI_id": 353,
      "geneSymbol": "APRT",
      "hgvs": [
        "NM_001030018.2:c.82G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001025189.1:p.Asp28His",
        "hgvsWellDefined": "NP_001025189.1:p.Asp28His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675723"
    }
  ],
  "type": "nucleotide"
}