{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1139662824",
  "communityStandardTitle": [
    "NM_024312.5(GNPTAB):c.3250-8T>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=872172[alleleid]",
        "alleleId": 872172,
        "preferredName": "NM_024312.5(GNPTAB):c.3250-8T>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/883483",
        "RCV": [
          "RCV001113941",
          "RCV001113940",
          "RCV001504682"
        ],
        "variationId": 883483
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1952924076",
        "rs": 1952924076
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-101757665-A-G?dataset=gnomad_r4",
        "id": "12-101757665-A-G",
        "variant": "12:101757665 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 101757665,
          "referenceAllele": "A",
          "start": 101757664
        }
      ],
      "hgvs": [
        "NC_000012.12:g.101757665A>G",
        "CM000674.2:g.101757665A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 102151443,
          "referenceAllele": "A",
          "start": 102151442
        }
      ],
      "hgvs": [
        "NC_000012.11:g.102151443A>G",
        "CM000674.1:g.102151443A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 100675574,
          "referenceAllele": "A",
          "start": 100675573
        }
      ],
      "hgvs": [
        "NC_000012.10:g.100675574A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 78203,
          "referenceAllele": "T",
          "start": 78202
        }
      ],
      "hgvs": [
        "NG_021243.1:g.78203T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003506"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3533,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "T",
          "start": 3533,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "ENST00000299314.12:c.3250-8T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299314.7:n.3250-8T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744661",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299314.12:c.3250-8T>C"
          },
          "RefSeq": {
            "hgvs": "NM_024312.5:c.3250-8T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299314.7:n.3250-8T>C"
          },
          "RefSeq": {
            "hgvs": "NP_077288.2:n.3250-8T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3512,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "T",
          "start": 3512,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "ENST00000299314.11:c.3250-8T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299314.7:n.3250-8T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254703"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 115,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "T",
          "start": 115,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "ENST00000549194.1:n.116-8T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367320"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 61,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "T",
          "start": 61,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "ENST00000550718.1:c.62-8T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS368226"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3441,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "T",
          "start": 3441,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "NM_024312.4:c.3250-8T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_077288.2:n.3250-8T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037723"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3436,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "T",
          "start": 3436,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_006719593.2:c.3250-8T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719656.1:n.3250-8T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073220"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3982,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "T",
          "start": 3982,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_011538731.1:c.3169-8T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537033.1:n.3169-8T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105685"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3392,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "T",
          "start": 3392,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_006719593.3:c.3250-8T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719656.1:n.3250-8T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539901"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3437,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "T",
          "start": 3437,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_011538731.2:c.3169-8T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537033.1:n.3169-8T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553386"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3338,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "T",
          "start": 3338,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_017019961.1:c.3034-8T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875450.1:n.3034-8T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571537"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3515,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "T",
          "start": 3515,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_017019962.2:c.2023-8T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875451.1:n.2023-8T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571538"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3533,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "T",
          "start": 3533,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "NM_024312.5:c.3250-8T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_077288.2:n.3250-8T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670629",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299314.12:c.3250-8T>C"
          },
          "RefSeq": {
            "hgvs": "NM_024312.5:c.3250-8T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299314.7:n.3250-8T>C"
          },
          "RefSeq": {
            "hgvs": "NP_077288.2:n.3250-8T>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}