{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16609436",
  "communityStandardTitle": [
    "NM_032520.5(GNPTG):c.324G>A (p.Trp108Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=384471[alleleid]",
        "alleleId": 384471,
        "preferredName": "NM_032520.5(GNPTG):c.324G>A (p.Trp108Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/397575",
        "RCV": [
          "RCV000825527",
          "RCV000449610"
        ],
        "variationId": 397575
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.1412045G>A?assembly=hg19",
        "id": "chr16:g.1412045G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.1362044G>A?assembly=hg38",
        "id": "chr16:g.1362044G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1060499690",
        "rs": 1060499690
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 1362044,
          "referenceAllele": "G",
          "start": 1362043
        }
      ],
      "hgvs": [
        "NC_000016.10:g.1362044G>A",
        "CM000678.2:g.1362044G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 1412045,
          "referenceAllele": "G",
          "start": 1412044
        }
      ],
      "hgvs": [
        "NC_000016.9:g.1412045G>A",
        "CM000678.1:g.1412045G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 1352046,
          "referenceAllele": "G",
          "start": 1352045
        }
      ],
      "hgvs": [
        "NC_000016.8:g.1352046G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 15146,
          "referenceAllele": "G",
          "start": 15145
        }
      ],
      "hgvs": [
        "NG_016985.1:g.15146G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003352"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 57661,
          "referenceAllele": "C",
          "start": 57660
        }
      ],
      "hgvs": [
        "NG_033129.1:g.57661C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005450"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 423,
          "referenceAllele": "G",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023026",
      "geneNCBI_id": 84572,
      "geneSymbol": "GNPTG",
      "hgvs": [
        "ENST00000527168.6:n.423G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825731"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 408,
          "referenceAllele": "G",
          "start": 407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023026",
      "geneNCBI_id": 84572,
      "geneSymbol": "GNPTG",
      "hgvs": [
        "ENST00000529110.2:c.408G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435349.2:p.Trp136Ter",
        "hgvsWellDefined": "ENSP00000435349.2:p.Trp136_Leu333delinsHisGluTrpGluIleAlaAsnAsnThrPheThrGlyMetTrpMetArgAspGlyAspAlaCysArgSerArgSerArgGlnSerLysValGluLeuAlaCysGlyLysSerAsnArgLeuAlaHisValSerGluProSerThrCysValTyrAlaLeuThrPheGluThrProLeuValCysHisProHisAlaLeuLeuValTyrProThrLeuProGluAlaLeuGlnArgGlnTrpAspGlnValGluGlnAspLeuAlaAspGluLeuIleThrProGlnGlyHisGluLysLeuLeuArgThrLeuPheGluAspAlaGlyTyrLeuLysThrProGluGluAsnGluProThrGlnLeuGluGlyGlyProAspSerLeuGlyPheGluThrLeuGluAsnCysArgLysAlaHisLysGluLeuSerLysGluIleLysArgLeuLysGlyLeuLeuThrGlnHisGlyIleProTyrThrArgProThrGluThrSerAsnLeuGluHisLeuGlyHisGluThrProArgAlaLysSerProGluGlnLeuArgGlyAspProGlyLeuArgGlySerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825764"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 382,
          "referenceAllele": "G",
          "start": 381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023026",
      "geneNCBI_id": 84572,
      "geneSymbol": "GNPTG",
      "hgvs": [
        "ENST00000529957.6:n.382G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825779"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 295,
          "referenceAllele": "G",
          "start": 294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023026",
      "geneNCBI_id": 84572,
      "geneSymbol": "GNPTG",
      "hgvs": [
        "ENST00000683366.1:c.*56G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507283.1:n.*56G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828346"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 383,
          "referenceAllele": "G",
          "start": 382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023026",
      "geneNCBI_id": 84572,
      "geneSymbol": "GNPTG",
      "hgvs": [
        "ENST00000683887.1:c.372G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506886.1:p.Trp124Ter",
        "hgvsWellDefined": "ENSP00000506886.1:p.Trp124_Leu321delinsHisGluTrpGluIleAlaAsnAsnThrPheThrGlyMetTrpMetArgAspGlyAspAlaCysArgSerArgSerArgGlnSerLysValGluLeuAlaCysGlyLysSerAsnArgLeuAlaHisValSerGluProSerThrCysValTyrAlaLeuThrPheGluThrProLeuValCysHisProHisAlaLeuLeuValTyrProThrLeuProGluAlaLeuGlnArgGlnTrpAspGlnValGluGlnAspLeuAlaAspGluLeuIleThrProGlnGlyHisGluLysLeuLeuArgThrLeuPheGluAspAlaGlyTyrLeuLysThrProGluGluAsnGluProThrGlnLeuGluGlyGlyProAspSerLeuGlyPheGluThrLeuGluAsnCysArgLysAlaHisLysGluLeuSerLysGluIleLysArgLeuLysGlyLeuLeuThrGlnHisGlyIleProTyrThrArgProThrGluThrSerAsnLeuGluHisLeuGlyHisGluThrProArgAlaLysSerProGluGlnLeuArgGlyAspProGlyLeuArgGlySerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828854"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 318,
          "referenceAllele": "G",
          "start": 317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023026",
      "geneNCBI_id": 84572,
      "geneSymbol": "GNPTG",
      "hgvs": [
        "ENST00000684100.1:n.318G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829059"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 382,
          "referenceAllele": "G",
          "start": 381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023026",
      "geneNCBI_id": 84572,
      "geneSymbol": "GNPTG",
      "hgvs": [
        "ENST00000684126.1:n.382G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829084"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 949,
          "referenceAllele": "G",
          "start": 948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023026",
      "geneNCBI_id": 84572,
      "geneSymbol": "GNPTG",
      "hgvs": [
        "ENST00000684688.1:n.949G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829639"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 359,
          "referenceAllele": "G",
          "start": 358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023026",
      "geneNCBI_id": 84572,
      "geneSymbol": "GNPTG",
      "hgvs": [
        "ENST00000204679.9:c.324G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000204679.4:p.Trp108Ter",
        "hgvsWellDefined": "ENSP00000204679.4:p.Trp108_Leu305delinsHisGluTrpGluIleAlaAsnAsnThrPheThrGlyMetTrpMetArgAspGlyAspAlaCysArgSerArgSerArgGlnSerLysValGluLeuAlaCysGlyLysSerAsnArgLeuAlaHisValSerGluProSerThrCysValTyrAlaLeuThrPheGluThrProLeuValCysHisProHisAlaLeuLeuValTyrProThrLeuProGluAlaLeuGlnArgGlnTrpAspGlnValGluGlnAspLeuAlaAspGluLeuIleThrProGlnGlyHisGluLysLeuLeuArgThrLeuPheGluAspAlaGlyTyrLeuLysThrProGluGluAsnGluProThrGlnLeuGluGlyGlyProAspSerLeuGlyPheGluThrLeuGluAsnCysArgLysAlaHisLysGluLeuSerLysGluIleLysArgLeuLysGlyLeuLeuThrGlnHisGlyIleProTyrThrArgProThrGluThrSerAsnLeuGluHisLeuGlyHisGluThrProArgAlaLysSerProGluGlnLeuArgGlyAspProGlyLeuArgGlySerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740169",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000204679.9:c.324G>A"
          },
          "RefSeq": {
            "hgvs": "NM_032520.5:c.324G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000204679.4:p.Trp108Ter"
          },
          "RefSeq": {
            "hgvs": "NP_115909.1:p.Trp108Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 367,
          "referenceAllele": "G",
          "start": 366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023026",
      "geneNCBI_id": 84572,
      "geneSymbol": "GNPTG",
      "hgvs": [
        "ENST00000204679.8:c.324G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000204679.4:p.Trp108Ter",
        "hgvsWellDefined": "ENSP00000204679.4:p.Trp108_Leu305delinsHisGluTrpGluIleAlaAsnAsnThrPheThrGlyMetTrpMetArgAspGlyAspAlaCysArgSerArgSerArgGlnSerLysValGluLeuAlaCysGlyLysSerAsnArgLeuAlaHisValSerGluProSerThrCysValTyrAlaLeuThrPheGluThrProLeuValCysHisProHisAlaLeuLeuValTyrProThrLeuProGluAlaLeuGlnArgGlnTrpAspGlnValGluGlnAspLeuAlaAspGluLeuIleThrProGlnGlyHisGluLysLeuLeuArgThrLeuPheGluAspAlaGlyTyrLeuLysThrProGluGluAsnGluProThrGlnLeuGluGlyGlyProAspSerLeuGlyPheGluThrLeuGluAsnCysArgLysAlaHisLysGluLeuSerLysGluIleLysArgLeuLysGlyLeuLeuThrGlnHisGlyIleProTyrThrArgProThrGluThrSerAsnLeuGluHisLeuGlyHisGluThrProArgAlaLysSerProGluGlnLeuArgGlyAspProGlyLeuArgGlySerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247810"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 492,
          "referenceAllele": "G",
          "start": 491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023026",
      "geneNCBI_id": 84572,
      "geneSymbol": "GNPTG",
      "hgvs": [
        "ENST00000526820.5:c.*226G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434413.1:n.*226G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352622"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1340,
          "referenceAllele": "G",
          "start": 1339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023026",
      "geneNCBI_id": 84572,
      "geneSymbol": "GNPTG",
      "hgvs": [
        "ENST00000527076.1:n.1340G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS352841"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 360,
          "referenceAllele": "G",
          "start": 359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023026",
      "geneNCBI_id": 84572,
      "geneSymbol": "GNPTG",
      "hgvs": [
        "ENST00000527168.5:n.360G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS352919"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 391,
          "referenceAllele": "G",
          "start": 390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023026",
      "geneNCBI_id": 84572,
      "geneSymbol": "GNPTG",
      "hgvs": [
        "ENST00000529110.1:c.391G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS354546"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 423,
          "referenceAllele": "G",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023026",
      "geneNCBI_id": 84572,
      "geneSymbol": "GNPTG",
      "hgvs": [
        "ENST00000529957.5:n.423G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS355285"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645434970",
      "coordinates": [
        {
          "allele": "A",
          "end": 391,
          "referenceAllele": "G",
          "start": 390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023026",
      "geneNCBI_id": 84572,
      "geneSymbol": "GNPTG",
      "hgvs": [
        "NM_032520.4:c.324G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_115909.1:p.Trp108Ter",
        "hgvsWellDefined": "NP_115909.1:p.Trp108_Leu305delinsHisGluTrpGluIleAlaAsnAsnThrPheThrGlyMetTrpMetArgAspGlyAspAlaCysArgSerArgSerArgGlnSerLysValGluLeuAlaCysGlyLysSerAsnArgLeuAlaHisValSerGluProSerThrCysValTyrAlaLeuThrPheGluThrProLeuValCysHisProHisAlaLeuLeuValTyrProThrLeuProGluAlaLeuGlnArgGlnTrpAspGlnValGluGlnAspLeuAlaAspGluLeuIleThrProGlnGlyHisGluLysLeuLeuArgThrLeuPheGluAspAlaGlyTyrLeuLysThrProGluGluAsnGluProThrGlnLeuGluGlyGlyProAspSerLeuGlyPheGluThrLeuGluAsnCysArgLysAlaHisLysGluLeuSerLysGluIleLysArgLeuLysGlyLeuLeuThrGlnHisGlyIleProTyrThrArgProThrGluThrSerAsnLeuGluHisLeuGlyHisGluThrProArgAlaLysSerProGluGlnLeuArgGlyAspProGlyLeuArgGlySerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039151"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 407,
          "referenceAllele": "G",
          "start": 406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023026",
      "geneNCBI_id": 84572,
      "geneSymbol": "GNPTG",
      "hgvs": [
        "XM_017023782.1:c.372G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879271.1:p.Trp124Ter",
        "hgvsWellDefined": "XP_016879271.1:p.Trp124_Leu321delinsHisGluTrpGluIleAlaAsnAsnThrPheThrGlyMetTrpMetArgAspGlyAspAlaCysArgSerArgSerArgGlnSerLysValGluLeuAlaCysGlyLysSerAsnArgLeuAlaHisValSerGluProSerThrCysValTyrAlaLeuThrPheGluThrProLeuValCysHisProHisAlaLeuLeuValTyrProThrLeuProGluAlaLeuGlnArgGlnTrpAspGlnValGluGlnAspLeuAlaAspGluLeuIleThrProGlnGlyHisGluLysLeuLeuArgThrLeuPheGluAspAlaGlyTyrLeuLysThrProGluGluAsnGluProThrGlnLeuGluGlyGlyProAspSerLeuGlyPheGluThrLeuGluAsnCysArgLysAlaHisLysGluLeuSerLysGluIleLysArgLeuLysGlyLeuLeuThrGlnHisGlyIleProTyrThrArgProThrGluThrSerAsnLeuGluHisLeuGlyHisGluThrProArgAlaLysSerProGluGlnLeuArgGlyAspProGlyLeuArgGlySerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574466"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 279,
          "referenceAllele": "G",
          "start": 278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023026",
      "geneNCBI_id": 84572,
      "geneSymbol": "GNPTG",
      "hgvs": [
        "XM_017023783.1:c.-37G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879272.1:n.-37G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574467"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645434970",
      "coordinates": [
        {
          "allele": "A",
          "end": 359,
          "referenceAllele": "G",
          "start": 358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023026",
      "geneNCBI_id": 84572,
      "geneSymbol": "GNPTG",
      "hgvs": [
        "NM_032520.5:c.324G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_115909.1:p.Trp108Ter",
        "hgvsWellDefined": "NP_115909.1:p.Trp108_Leu305delinsHisGluTrpGluIleAlaAsnAsnThrPheThrGlyMetTrpMetArgAspGlyAspAlaCysArgSerArgSerArgGlnSerLysValGluLeuAlaCysGlyLysSerAsnArgLeuAlaHisValSerGluProSerThrCysValTyrAlaLeuThrPheGluThrProLeuValCysHisProHisAlaLeuLeuValTyrProThrLeuProGluAlaLeuGlnArgGlnTrpAspGlnValGluGlnAspLeuAlaAspGluLeuIleThrProGlnGlyHisGluLysLeuLeuArgThrLeuPheGluAspAlaGlyTyrLeuLysThrProGluGluAsnGluProThrGlnLeuGluGlyGlyProAspSerLeuGlyPheGluThrLeuGluAsnCysArgLysAlaHisLysGluLeuSerLysGluIleLysArgLeuLysGlyLeuLeuThrGlnHisGlyIleProTyrThrArgProThrGluThrSerAsnLeuGluHisLeuGlyHisGluThrProArgAlaLysSerProGluGlnLeuArgGlyAspProGlyLeuArgGlySerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671346",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000204679.9:c.324G>A"
          },
          "RefSeq": {
            "hgvs": "NM_032520.5:c.324G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000204679.4:p.Trp108Ter"
          },
          "RefSeq": {
            "hgvs": "NP_115909.1:p.Trp108Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}