{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA343345",
  "communityStandardTitle": [
    "NM_024312.5(GNPTAB):c.136C>T (p.Arg46Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1322055",
        "active": true,
        "id": "COSM1322055"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=47634[alleleid]",
        "alleleId": 47634,
        "preferredName": "NM_024312.5(GNPTAB):c.136C>T (p.Arg46Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/39031",
        "RCV": [
          "RCV000032296",
          "RCV000760392",
          "RCV000673315"
        ],
        "variationId": 39031
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-102190522-G-A",
        "id": "12-102190522-G-A",
        "variant": "12:102190522 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.102190522G>A?assembly=hg19",
        "id": "chr12:g.102190522G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.101796744G>A?assembly=hg38",
        "id": "chr12:g.101796744G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/78347057",
        "rs": 78347057
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-102190522-G-A?dataset=gnomad_r2_1",
        "id": "12-102190522-G-A",
        "variant": "12:102190522 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-101796744-G-A?dataset=gnomad_r4",
        "id": "12-101796744-G-A",
        "variant": "12:101796744 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 101796744,
          "referenceAllele": "G",
          "start": 101796743
        }
      ],
      "hgvs": [
        "NC_000012.12:g.101796744G>A",
        "CM000674.2:g.101796744G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 102190522,
          "referenceAllele": "G",
          "start": 102190521
        }
      ],
      "hgvs": [
        "NC_000012.11:g.102190522G>A",
        "CM000674.1:g.102190522G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 100714653,
          "referenceAllele": "G",
          "start": 100714652
        }
      ],
      "hgvs": [
        "NC_000012.10:g.100714653G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 39124,
          "referenceAllele": "C",
          "start": 39123
        }
      ],
      "hgvs": [
        "NG_021243.1:g.39124C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003506"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 420,
          "referenceAllele": "C",
          "start": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "ENST00000299314.12:c.136C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299314.7:p.Arg46Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744661",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299314.12:c.136C>T"
          },
          "RefSeq": {
            "hgvs": "NM_024312.5:c.136C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299314.7:p.Arg46Ter"
          },
          "RefSeq": {
            "hgvs": "NP_077288.2:p.Arg46Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 256,
          "referenceAllele": "C",
          "start": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "ENST00000647144.1:n.256C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769260"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 399,
          "referenceAllele": "C",
          "start": 398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "ENST00000299314.11:c.136C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299314.7:p.Arg46Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254703"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 304,
          "referenceAllele": "C",
          "start": 303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "ENST00000392919.4:c.136C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376651.4:p.Arg46Ter",
        "hgvsWellDefined": "ENSP00000376651.4:p.Arg46_Arg71delinsAspGlnTyrHisValLeuPheAspSerTyrArgAspAsnIleAlaGlyLysSerPheGlnAsnArgSerValArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275358"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 140,
          "referenceAllele": "C",
          "start": 139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "ENST00000549165.1:c.136C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450413.1:p.Arg46Ter",
        "hgvsWellDefined": "ENSP00000450413.1:p.Arg46_Arg68delinsAspGlnTyrHisValLeuPheAspSerTyrArgAspAsnIleAlaGlyLysSerPheGlnAsnArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS367301"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 279,
          "referenceAllele": "C",
          "start": 278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "ENST00000549940.5:c.136C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449150.1:p.Arg46Ter",
        "hgvsWellDefined": "ENSP00000449150.1:p.Arg46_Tyr490delinsAspGlnTyrHisValLeuPheAspSerTyrArgAspAsnIleAlaGlyLysSerPheGlnAsnArgLeuCysLeuProMetProIleAspValValTyrThrTrpValAsnGlyThrAspLeuGluLeuLeuLysGluLeuGlnGlnValArgGluGlnMetGluGluGluGlnLysAlaMetArgGluIleLeuGlyLysAsnThrThrGluProThrLysLysSerGluLysGlnLeuGluCysLeuLeuThrHisCysIleLysValProMetLeuValLeuAspProAlaLeuProAlaAsnIleThrLeuLysAspLeuProSerLeuTyrProSerPheHisSerAlaSerAspIlePheAsnValAlaLysProLysAsnProSerThrAsnValSerValValValPheAspSerThrLysAspValGluAspAlaHisSerGlyLeuLeuLysGlyAsnSerArgGlnThrValTrpArgGlyTyrLeuThrThrAspLysGluValProGlyLeuValLeuMetGlnAspLeuAlaPheLeuSerGlyPheProProThrPheLysGluThrAsnGlnLeuLysThrLysLeuProGluAsnLeuSerSerLysValLysLeuLeuGlnLeuTyrSerGluAlaSerValAlaLeuLeuLysLeuAsnAsnProLysAspPheGlnGluLeuAsnLysGlnThrLysLysAsnMetThrIleAspGlyLysGluLeuThrIleSerProAlaTyrLeuLeuTrpAspLeuSerAlaIleSerGlnSerLysGlnAspGluAspIleSerAlaSerArgPheGluAspAsnGluGluLeuArgTyrSerLeuArgSerIleGluArgHisAlaProTrpValArgAsnIlePheIleValThrAsnGlyGlnIleProSerTrpLeuAsnLeuAspAsnProArgValThrIleValThrHisGlnAspValPheArgAsnLeuSerHisLeuProThrPheSerSerProAlaIleGluSerHisIleHisArgIleGluGlyLeuSerGlnLysPheIleTyrLeuAsnAspAspValMetPheGlyLysAspValTrpProAspAspPheTyrSerHisSerLysGlyGlnLysValTyrLeuThrTrpProValProAsnCysAlaGluGlyCysProGlySerTrpIleLysAspGlyTyrCysAspLysAlaCysAsnAsnSerAlaCysAspTrpAspGlyGlyAspCysSerGlyLysAspValLeuAsnCysAsnSerPheIlePheMetGluTyrPheLeuLeuAsnHisTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS367749"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 328,
          "referenceAllele": "C",
          "start": 327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "NM_024312.4:c.136C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_077288.2:p.Arg46Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037723"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 323,
          "referenceAllele": "C",
          "start": 322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_006719593.2:c.136C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719656.1:p.Arg46Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073220"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 869,
          "referenceAllele": "C",
          "start": 868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_011538731.1:c.55C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537033.1:p.Arg19Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105685"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 279,
          "referenceAllele": "C",
          "start": 278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_006719593.3:c.136C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719656.1:p.Arg46Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539901"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 324,
          "referenceAllele": "C",
          "start": 323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_011538731.2:c.55C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537033.1:p.Arg19Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553386"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 225,
          "referenceAllele": "C",
          "start": 224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_017019961.1:c.-81C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875450.1:n.-81C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571537"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 279,
          "referenceAllele": "C",
          "start": 278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_017019962.2:c.-1215C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875451.1:n.-1215C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571538"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 420,
          "referenceAllele": "C",
          "start": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "NM_024312.5:c.136C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_077288.2:p.Arg46Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670629",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299314.12:c.136C>T"
          },
          "RefSeq": {
            "hgvs": "NM_024312.5:c.136C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299314.7:p.Arg46Ter"
          },
          "RefSeq": {
            "hgvs": "NP_077288.2:p.Arg46Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}