{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6746914",
  "communityStandardTitle": [
    "NM_024312.5(GNPTAB):c.325G>T (p.Glu109Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1484720[alleleid]",
        "alleleId": 1484720,
        "preferredName": "NM_024312.5(GNPTAB):c.325G>T (p.Glu109Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1459530",
        "RCV": [
          "RCV001975245"
        ],
        "variationId": 1459530
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-102182366-C-A",
        "id": "12-102182366-C-A",
        "variant": "12:102182366 C / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.102182366C>A?assembly=hg19",
        "id": "chr12:g.102182366C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.101788588C>A?assembly=hg38",
        "id": "chr12:g.101788588C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/377553632",
        "rs": 377553632
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-102182366-C-A?dataset=gnomad_r2_1",
        "id": "12-102182366-C-A",
        "variant": "12:102182366 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 101788588,
          "referenceAllele": "C",
          "start": 101788587
        }
      ],
      "hgvs": [
        "NC_000012.12:g.101788588C>A",
        "CM000674.2:g.101788588C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 102182366,
          "referenceAllele": "C",
          "start": 102182365
        }
      ],
      "hgvs": [
        "NC_000012.11:g.102182366C>A",
        "CM000674.1:g.102182366C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 100706497,
          "referenceAllele": "C",
          "start": 100706496
        }
      ],
      "hgvs": [
        "NC_000012.10:g.100706497C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 47280,
          "referenceAllele": "G",
          "start": 47279
        }
      ],
      "hgvs": [
        "NG_021243.1:g.47280G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003506"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 609,
          "referenceAllele": "G",
          "start": 608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "ENST00000299314.12:c.325G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299314.7:p.Glu109Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744661",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299314.12:c.325G>T"
          },
          "RefSeq": {
            "hgvs": "NM_024312.5:c.325G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299314.7:p.Glu109Ter"
          },
          "RefSeq": {
            "hgvs": "NP_077288.2:p.Glu109Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 588,
          "referenceAllele": "G",
          "start": 587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "ENST00000299314.11:c.325G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299314.7:p.Glu109Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254703"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 468,
          "referenceAllele": "G",
          "start": 467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "ENST00000549940.5:c.325G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449150.1:p.Glu109Ter",
        "hgvsWellDefined": "ENSP00000449150.1:p.Glu109_Tyr490delinsIleLeuGlyLysAsnThrThrGluProThrLysLysSerGluLysGlnLeuGluCysLeuLeuThrHisCysIleLysValProMetLeuValLeuAspProAlaLeuProAlaAsnIleThrLeuLysAspLeuProSerLeuTyrProSerPheHisSerAlaSerAspIlePheAsnValAlaLysProLysAsnProSerThrAsnValSerValValValPheAspSerThrLysAspValGluAspAlaHisSerGlyLeuLeuLysGlyAsnSerArgGlnThrValTrpArgGlyTyrLeuThrThrAspLysGluValProGlyLeuValLeuMetGlnAspLeuAlaPheLeuSerGlyPheProProThrPheLysGluThrAsnGlnLeuLysThrLysLeuProGluAsnLeuSerSerLysValLysLeuLeuGlnLeuTyrSerGluAlaSerValAlaLeuLeuLysLeuAsnAsnProLysAspPheGlnGluLeuAsnLysGlnThrLysLysAsnMetThrIleAspGlyLysGluLeuThrIleSerProAlaTyrLeuLeuTrpAspLeuSerAlaIleSerGlnSerLysGlnAspGluAspIleSerAlaSerArgPheGluAspAsnGluGluLeuArgTyrSerLeuArgSerIleGluArgHisAlaProTrpValArgAsnIlePheIleValThrAsnGlyGlnIleProSerTrpLeuAsnLeuAspAsnProArgValThrIleValThrHisGlnAspValPheArgAsnLeuSerHisLeuProThrPheSerSerProAlaIleGluSerHisIleHisArgIleGluGlyLeuSerGlnLysPheIleTyrLeuAsnAspAspValMetPheGlyLysAspValTrpProAspAspPheTyrSerHisSerLysGlyGlnLysValTyrLeuThrTrpProValProAsnCysAlaGluGlyCysProGlySerTrpIleLysAspGlyTyrCysAspLysAlaCysAsnAsnSerAlaCysAspTrpAspGlyGlyAspCysSerGlyLysAspValLeuAsnCysAsnSerPheIlePheMetGluTyrPheLeuLeuAsnHisTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS367749"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 119,
          "referenceAllele": "G",
          "start": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "ENST00000550352.1:n.119G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367993"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 517,
          "referenceAllele": "G",
          "start": 516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "NM_024312.4:c.325G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_077288.2:p.Glu109Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037723"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 512,
          "referenceAllele": "G",
          "start": 511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_006719593.2:c.325G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719656.1:p.Glu109Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073220"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1058,
          "referenceAllele": "G",
          "start": 1057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_011538731.1:c.244G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537033.1:p.Glu82Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105685"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 468,
          "referenceAllele": "G",
          "start": 467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_006719593.3:c.325G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719656.1:p.Glu109Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539901"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 513,
          "referenceAllele": "G",
          "start": 512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_011538731.2:c.244G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537033.1:p.Glu82Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553386"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 414,
          "referenceAllele": "G",
          "start": 413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_017019961.1:c.109G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875450.1:p.Glu37Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571537"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 468,
          "referenceAllele": "G",
          "start": 467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_017019962.2:c.-1026G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875451.1:n.-1026G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571538"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 609,
          "referenceAllele": "G",
          "start": 608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "NM_024312.5:c.325G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_077288.2:p.Glu109Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670629",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299314.12:c.325G>T"
          },
          "RefSeq": {
            "hgvs": "NM_024312.5:c.325G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299314.7:p.Glu109Ter"
          },
          "RefSeq": {
            "hgvs": "NP_077288.2:p.Glu109Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}