{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6746980",
  "communityStandardTitle": [
    "NM_024312.5(GNPTAB):c.203+1G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3105394[alleleid]",
        "alleleId": 3105394,
        "preferredName": "NM_024312.5(GNPTAB):c.203+1G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2946920",
        "RCV": [
          "RCV003809158"
        ],
        "variationId": 2946920
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-102190454-C-T",
        "id": "12-102190454-C-T",
        "variant": "12:102190454 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.102190454C>T?assembly=hg19",
        "id": "chr12:g.102190454C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.101796676C>T?assembly=hg38",
        "id": "chr12:g.101796676C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/545989411",
        "rs": 545989411
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-102190454-C-T?dataset=gnomad_r2_1",
        "id": "12-102190454-C-T",
        "variant": "12:102190454 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-101796676-C-T?dataset=gnomad_r3",
        "id": "12-101796676-C-T",
        "variant": "12:101796676 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-101796676-C-T?dataset=gnomad_r4",
        "id": "12-101796676-C-T",
        "variant": "12:101796676 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 101796676,
          "referenceAllele": "C",
          "start": 101796675
        }
      ],
      "hgvs": [
        "NC_000012.12:g.101796676C>T",
        "CM000674.2:g.101796676C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 102190454,
          "referenceAllele": "C",
          "start": 102190453
        }
      ],
      "hgvs": [
        "NC_000012.11:g.102190454C>T",
        "CM000674.1:g.102190454C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 100714585,
          "referenceAllele": "C",
          "start": 100714584
        }
      ],
      "hgvs": [
        "NC_000012.10:g.100714585C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 39192,
          "referenceAllele": "G",
          "start": 39191
        }
      ],
      "hgvs": [
        "NG_021243.1:g.39192G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003506"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 487,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 487,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "ENST00000299314.12:c.203+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299314.7:n.203+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744661",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299314.12:c.203+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_024312.5:c.203+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299314.7:n.203+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_077288.2:n.203+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 323,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 323,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "ENST00000647144.1:n.323+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769260"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 466,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 466,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "ENST00000299314.11:c.203+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299314.7:n.203+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254703"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 371,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 371,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "ENST00000392919.4:c.203+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376651.4:n.203+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275358"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 208,
          "referenceAllele": "G",
          "start": 207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "ENST00000549165.1:c.204G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450413.1:p.Arg68="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS367301"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 346,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 346,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "ENST00000549940.5:c.203+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449150.1:n.203+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS367749"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 395,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 395,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "NM_024312.4:c.203+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_077288.2:n.203+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037723"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 390,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 390,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_006719593.2:c.203+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719656.1:n.203+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073220"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 936,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 936,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_011538731.1:c.122+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537033.1:n.122+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105685"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 346,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 346,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_006719593.3:c.203+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719656.1:n.203+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539901"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 391,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 391,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_011538731.2:c.122+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537033.1:n.122+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553386"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 292,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 292,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_017019961.1:c.-14+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875450.1:n.-14+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571537"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 346,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 346,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_017019962.2:c.-1148+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875451.1:n.-1148+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571538"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 487,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 487,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "NM_024312.5:c.203+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_077288.2:n.203+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670629",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299314.12:c.203+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_024312.5:c.203+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299314.7:n.203+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_077288.2:n.203+1G>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}