{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA343418",
  "communityStandardTitle": [
    "NM_024312.5(GNPTAB):c.940C>T (p.Gln314Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=47695[alleleid]",
        "alleleId": 47695,
        "preferredName": "NM_024312.5(GNPTAB):c.940C>T (p.Gln314Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/39092",
        "RCV": [
          "RCV000032359"
        ],
        "variationId": 39092
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.102164357G>A?assembly=hg19",
        "id": "chr12:g.102164357G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.101770579G>A?assembly=hg38",
        "id": "chr12:g.101770579G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/281864968",
        "rs": 281864968
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 101770579,
          "referenceAllele": "G",
          "start": 101770578
        }
      ],
      "hgvs": [
        "NC_000012.12:g.101770579G>A",
        "CM000674.2:g.101770579G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 102164357,
          "referenceAllele": "G",
          "start": 102164356
        }
      ],
      "hgvs": [
        "NC_000012.11:g.102164357G>A",
        "CM000674.1:g.102164357G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 100688488,
          "referenceAllele": "G",
          "start": 100688487
        }
      ],
      "hgvs": [
        "NC_000012.10:g.100688488G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 65289,
          "referenceAllele": "C",
          "start": 65288
        }
      ],
      "hgvs": [
        "NG_021243.1:g.65289C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003506"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1224,
          "referenceAllele": "C",
          "start": 1223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "ENST00000299314.12:c.940C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299314.7:p.Gln314Ter",
        "hgvsWellDefined": "ENSP00000299314.7:p.Gln314_Val1256delinsAspGluAspIleSerAlaSerArgPheGluAspAsnGluGluLeuArgTyrSerLeuArgSerIleGluArgHisAlaProTrpValArgAsnIlePheIleValThrAsnGlyGlnIleProSerTrpLeuAsnLeuAspAsnProArgValThrIleValThrHisGlnAspValPheArgAsnLeuSerHisLeuProThrPheSerSerProAlaIleGluSerHisIleHisArgIleGluGlyLeuSerGlnLysPheIleTyrLeuAsnAspAspValMetPheGlyLysAspValTrpProAspAspPheTyrSerHisSerLysGlyGlnLysValTyrLeuThrTrpProValProAsnCysAlaGluGlyCysProGlySerTrpIleLysAspGlyTyrCysAspLysAlaCysAsnAsnSerAlaCysAspTrpAspGlyGlyAspCysSerGlyAsnSerGlyGlySerArgTyrIleAlaGlyGlyGlyGlyThrGlySerIleGlyValGlyGlnProTrpGlnPheGlyGlyGlyIleAsnSerValSerTyrCysAsnGlnGlyCysAlaAsnSerTrpLeuAlaAspLysPheCysAspGlnAlaCysAsnValLeuSerCysGlyPheAspAlaGlyAspCysGlyGlnAspHisPheHisGluLeuTyrLysValIleLeuLeuProAsnGlnThrHisTyrIleIleProLysGlyGluCysLeuProTyrPheSerPheAlaGluValAlaLysArgGlyValGluGlyAlaTyrSerAspAsnProIleIleArgHisAlaSerIleAlaAsnLysTrpLysThrIleHisLeuIleMetHisSerGlyMetAsnAlaThrThrIleHisPheAsnLeuThrPheGlnAsnThrAsnAspGluGluPheLysMetGlnIleThrValGluValAspThrArgGluGlyProLysLeuAsnSerThrAlaGlnLysGlyTyrGluAsnLeuValSerProIleThrLeuLeuProGluAlaGluIleLeuPheGluAspIleProLysGluLysArgPheProLysPheLysArgHisAspValAsnSerThrArgArgAlaGlnGluGluValLysIleProLeuValAsnIleSerLeuLeuProLysAspAlaGlnLeuSerLeuAsnThrLeuAspLeuGlnLeuGluHisGlyAspIleThrLeuLysGlyTyrAsnLeuSerLysSerAlaLeuLeuArgSerPheLeuMetAsnSerGlnHisAlaLysIleLysAsnGlnAlaIleIleThrAspGluThrAsnAspSerLeuValAlaProGlnGluLysGlnValHisLysSerIleLeuProAsnSerLeuGlyValSerGluArgLeuGlnArgLeuThrPheProAlaValSerValLysValAsnGlyHisAspGlnGlyGlnAsnProProLeuAspLeuGluThrThrAlaArgPheArgValGluThrHisThrGlnLysThrIleGlyGlyAsnValThrLysGluLysProProSerLeuIleValProLeuGluSerGlnMetThrLysGluLysLysIleThrGlyLysGluLysGluAsnSerArgMetGluGluAsnAlaGluAsnHisIleGlyValThrGluValLeuLeuGlyArgLysLeuGlnHisTyrThrAspSerTyrLeuGlyPheLeuProTrpGluLysLysLysTyrPheGlnAspLeuLeuAspGluGluGluSerLeuLysThrGlnLeuAlaTyrPheThrAspSerLysAsnThrGlyArgGlnLeuLysAspThrPheAlaAspSerLeuArgTyrValAsnLysIleLeuAsnSerLysPheGlyPheThrSerArgLysValProAlaHisMetProHisMetIleAspArgIleValMetGlnGluLeuGlnAspMetPheProGluGluPheAspLysThrSerPheHisLysValArgHisSerGluAspMetGlnPheAlaPheSerTyrPheTyrTyrLeuMetSerAlaValGlnProLeuAsnIleSerGlnValPheAspGluValAspThrAspGlnSerGlyValLeuSerAspArgGluIleArgThrLeuAlaThrArgIleHisGluLeuProLeuSerLeuGlnAspLeuThrGlyLeuGluHisMetLeuIleAsnCysSerLysMetLeuProAlaAspIleThrGlnLeuAsnAsnIleProProThrGlnGluSerTyrTyrAspProAsnLeuProProValThrLysSerLeuValThrAsnCysLysProValThrAspLysIleHisLysAlaTyrLysAspLysAsnLysTyrArgPheGluIleMetGlyGluGluGluIleAlaPheLysMetIleArgThrAsnValSerHisValValGlyGlnLeuAspAspIleArgLysAsnProArgLysPheValCysLeuAsnAspAsnIleAspHisAsnHisLysAspAlaGlnThrValLysAlaValLeuArgAspPheTyrGluSerMetPheProIleProSerGlnPheGluLeuProArgGluTyrArgAsnArgPheLeuHisMetHisGluLeuGlnGluTrpArgAlaTyrArgAspLysLeuLysPheTrpThrHisCysValLeuAlaThrLeuIleMetPheThrIlePheSerPhePheAlaGluGlnLeuIleAlaLeuLysArgLysIlePheProArgArgArgIleHisLysGluAlaSerProAsnArgIleArgValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744661",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299314.12:c.940C>T"
          },
          "RefSeq": {
            "hgvs": "NM_024312.5:c.940C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299314.7:p.Gln314Ter"
          },
          "RefSeq": {
            "hgvs": "NP_077288.2:p.Gln314Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1203,
          "referenceAllele": "C",
          "start": 1202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "ENST00000299314.11:c.940C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299314.7:p.Gln314Ter",
        "hgvsWellDefined": "ENSP00000299314.7:p.Gln314_Val1256delinsAspGluAspIleSerAlaSerArgPheGluAspAsnGluGluLeuArgTyrSerLeuArgSerIleGluArgHisAlaProTrpValArgAsnIlePheIleValThrAsnGlyGlnIleProSerTrpLeuAsnLeuAspAsnProArgValThrIleValThrHisGlnAspValPheArgAsnLeuSerHisLeuProThrPheSerSerProAlaIleGluSerHisIleHisArgIleGluGlyLeuSerGlnLysPheIleTyrLeuAsnAspAspValMetPheGlyLysAspValTrpProAspAspPheTyrSerHisSerLysGlyGlnLysValTyrLeuThrTrpProValProAsnCysAlaGluGlyCysProGlySerTrpIleLysAspGlyTyrCysAspLysAlaCysAsnAsnSerAlaCysAspTrpAspGlyGlyAspCysSerGlyAsnSerGlyGlySerArgTyrIleAlaGlyGlyGlyGlyThrGlySerIleGlyValGlyGlnProTrpGlnPheGlyGlyGlyIleAsnSerValSerTyrCysAsnGlnGlyCysAlaAsnSerTrpLeuAlaAspLysPheCysAspGlnAlaCysAsnValLeuSerCysGlyPheAspAlaGlyAspCysGlyGlnAspHisPheHisGluLeuTyrLysValIleLeuLeuProAsnGlnThrHisTyrIleIleProLysGlyGluCysLeuProTyrPheSerPheAlaGluValAlaLysArgGlyValGluGlyAlaTyrSerAspAsnProIleIleArgHisAlaSerIleAlaAsnLysTrpLysThrIleHisLeuIleMetHisSerGlyMetAsnAlaThrThrIleHisPheAsnLeuThrPheGlnAsnThrAsnAspGluGluPheLysMetGlnIleThrValGluValAspThrArgGluGlyProLysLeuAsnSerThrAlaGlnLysGlyTyrGluAsnLeuValSerProIleThrLeuLeuProGluAlaGluIleLeuPheGluAspIleProLysGluLysArgPheProLysPheLysArgHisAspValAsnSerThrArgArgAlaGlnGluGluValLysIleProLeuValAsnIleSerLeuLeuProLysAspAlaGlnLeuSerLeuAsnThrLeuAspLeuGlnLeuGluHisGlyAspIleThrLeuLysGlyTyrAsnLeuSerLysSerAlaLeuLeuArgSerPheLeuMetAsnSerGlnHisAlaLysIleLysAsnGlnAlaIleIleThrAspGluThrAsnAspSerLeuValAlaProGlnGluLysGlnValHisLysSerIleLeuProAsnSerLeuGlyValSerGluArgLeuGlnArgLeuThrPheProAlaValSerValLysValAsnGlyHisAspGlnGlyGlnAsnProProLeuAspLeuGluThrThrAlaArgPheArgValGluThrHisThrGlnLysThrIleGlyGlyAsnValThrLysGluLysProProSerLeuIleValProLeuGluSerGlnMetThrLysGluLysLysIleThrGlyLysGluLysGluAsnSerArgMetGluGluAsnAlaGluAsnHisIleGlyValThrGluValLeuLeuGlyArgLysLeuGlnHisTyrThrAspSerTyrLeuGlyPheLeuProTrpGluLysLysLysTyrPheGlnAspLeuLeuAspGluGluGluSerLeuLysThrGlnLeuAlaTyrPheThrAspSerLysAsnThrGlyArgGlnLeuLysAspThrPheAlaAspSerLeuArgTyrValAsnLysIleLeuAsnSerLysPheGlyPheThrSerArgLysValProAlaHisMetProHisMetIleAspArgIleValMetGlnGluLeuGlnAspMetPheProGluGluPheAspLysThrSerPheHisLysValArgHisSerGluAspMetGlnPheAlaPheSerTyrPheTyrTyrLeuMetSerAlaValGlnProLeuAsnIleSerGlnValPheAspGluValAspThrAspGlnSerGlyValLeuSerAspArgGluIleArgThrLeuAlaThrArgIleHisGluLeuProLeuSerLeuGlnAspLeuThrGlyLeuGluHisMetLeuIleAsnCysSerLysMetLeuProAlaAspIleThrGlnLeuAsnAsnIleProProThrGlnGluSerTyrTyrAspProAsnLeuProProValThrLysSerLeuValThrAsnCysLysProValThrAspLysIleHisLysAlaTyrLysAspLysAsnLysTyrArgPheGluIleMetGlyGluGluGluIleAlaPheLysMetIleArgThrAsnValSerHisValValGlyGlnLeuAspAspIleArgLysAsnProArgLysPheValCysLeuAsnAspAsnIleAspHisAsnHisLysAspAlaGlnThrValLysAlaValLeuArgAspPheTyrGluSerMetPheProIleProSerGlnPheGluLeuProArgGluTyrArgAsnArgPheLeuHisMetHisGluLeuGlnGluTrpArgAlaTyrArgAspLysLeuLysPheTrpThrHisCysValLeuAlaThrLeuIleMetPheThrIlePheSerPhePheAlaGluGlnLeuIleAlaLeuLysArgLysIlePheProArgArgArgIleHisLysGluAlaSerProAsnArgIleArgValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254703"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1083,
          "referenceAllele": "C",
          "start": 1082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "ENST00000549940.5:c.940C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449150.1:p.Gln314Ter",
        "hgvsWellDefined": "ENSP00000449150.1:p.Gln314_Tyr490delinsAspGluAspIleSerAlaSerArgPheGluAspAsnGluGluLeuArgTyrSerLeuArgSerIleGluArgHisAlaProTrpValArgAsnIlePheIleValThrAsnGlyGlnIleProSerTrpLeuAsnLeuAspAsnProArgValThrIleValThrHisGlnAspValPheArgAsnLeuSerHisLeuProThrPheSerSerProAlaIleGluSerHisIleHisArgIleGluGlyLeuSerGlnLysPheIleTyrLeuAsnAspAspValMetPheGlyLysAspValTrpProAspAspPheTyrSerHisSerLysGlyGlnLysValTyrLeuThrTrpProValProAsnCysAlaGluGlyCysProGlySerTrpIleLysAspGlyTyrCysAspLysAlaCysAsnAsnSerAlaCysAspTrpAspGlyGlyAspCysSerGlyLysAspValLeuAsnCysAsnSerPheIlePheMetGluTyrPheLeuLeuAsnHisTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS367749"
    },
    {
      "@id": "http://reg.genome.network/allele/PA343419",
      "coordinates": [
        {
          "allele": "T",
          "end": 1132,
          "referenceAllele": "C",
          "start": 1131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "NM_024312.4:c.940C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_077288.2:p.Gln314Ter",
        "hgvsWellDefined": "NP_077288.2:p.Gln314_Val1256delinsAspGluAspIleSerAlaSerArgPheGluAspAsnGluGluLeuArgTyrSerLeuArgSerIleGluArgHisAlaProTrpValArgAsnIlePheIleValThrAsnGlyGlnIleProSerTrpLeuAsnLeuAspAsnProArgValThrIleValThrHisGlnAspValPheArgAsnLeuSerHisLeuProThrPheSerSerProAlaIleGluSerHisIleHisArgIleGluGlyLeuSerGlnLysPheIleTyrLeuAsnAspAspValMetPheGlyLysAspValTrpProAspAspPheTyrSerHisSerLysGlyGlnLysValTyrLeuThrTrpProValProAsnCysAlaGluGlyCysProGlySerTrpIleLysAspGlyTyrCysAspLysAlaCysAsnAsnSerAlaCysAspTrpAspGlyGlyAspCysSerGlyAsnSerGlyGlySerArgTyrIleAlaGlyGlyGlyGlyThrGlySerIleGlyValGlyGlnProTrpGlnPheGlyGlyGlyIleAsnSerValSerTyrCysAsnGlnGlyCysAlaAsnSerTrpLeuAlaAspLysPheCysAspGlnAlaCysAsnValLeuSerCysGlyPheAspAlaGlyAspCysGlyGlnAspHisPheHisGluLeuTyrLysValIleLeuLeuProAsnGlnThrHisTyrIleIleProLysGlyGluCysLeuProTyrPheSerPheAlaGluValAlaLysArgGlyValGluGlyAlaTyrSerAspAsnProIleIleArgHisAlaSerIleAlaAsnLysTrpLysThrIleHisLeuIleMetHisSerGlyMetAsnAlaThrThrIleHisPheAsnLeuThrPheGlnAsnThrAsnAspGluGluPheLysMetGlnIleThrValGluValAspThrArgGluGlyProLysLeuAsnSerThrAlaGlnLysGlyTyrGluAsnLeuValSerProIleThrLeuLeuProGluAlaGluIleLeuPheGluAspIleProLysGluLysArgPheProLysPheLysArgHisAspValAsnSerThrArgArgAlaGlnGluGluValLysIleProLeuValAsnIleSerLeuLeuProLysAspAlaGlnLeuSerLeuAsnThrLeuAspLeuGlnLeuGluHisGlyAspIleThrLeuLysGlyTyrAsnLeuSerLysSerAlaLeuLeuArgSerPheLeuMetAsnSerGlnHisAlaLysIleLysAsnGlnAlaIleIleThrAspGluThrAsnAspSerLeuValAlaProGlnGluLysGlnValHisLysSerIleLeuProAsnSerLeuGlyValSerGluArgLeuGlnArgLeuThrPheProAlaValSerValLysValAsnGlyHisAspGlnGlyGlnAsnProProLeuAspLeuGluThrThrAlaArgPheArgValGluThrHisThrGlnLysThrIleGlyGlyAsnValThrLysGluLysProProSerLeuIleValProLeuGluSerGlnMetThrLysGluLysLysIleThrGlyLysGluLysGluAsnSerArgMetGluGluAsnAlaGluAsnHisIleGlyValThrGluValLeuLeuGlyArgLysLeuGlnHisTyrThrAspSerTyrLeuGlyPheLeuProTrpGluLysLysLysTyrPheGlnAspLeuLeuAspGluGluGluSerLeuLysThrGlnLeuAlaTyrPheThrAspSerLysAsnThrGlyArgGlnLeuLysAspThrPheAlaAspSerLeuArgTyrValAsnLysIleLeuAsnSerLysPheGlyPheThrSerArgLysValProAlaHisMetProHisMetIleAspArgIleValMetGlnGluLeuGlnAspMetPheProGluGluPheAspLysThrSerPheHisLysValArgHisSerGluAspMetGlnPheAlaPheSerTyrPheTyrTyrLeuMetSerAlaValGlnProLeuAsnIleSerGlnValPheAspGluValAspThrAspGlnSerGlyValLeuSerAspArgGluIleArgThrLeuAlaThrArgIleHisGluLeuProLeuSerLeuGlnAspLeuThrGlyLeuGluHisMetLeuIleAsnCysSerLysMetLeuProAlaAspIleThrGlnLeuAsnAsnIleProProThrGlnGluSerTyrTyrAspProAsnLeuProProValThrLysSerLeuValThrAsnCysLysProValThrAspLysIleHisLysAlaTyrLysAspLysAsnLysTyrArgPheGluIleMetGlyGluGluGluIleAlaPheLysMetIleArgThrAsnValSerHisValValGlyGlnLeuAspAspIleArgLysAsnProArgLysPheValCysLeuAsnAspAsnIleAspHisAsnHisLysAspAlaGlnThrValLysAlaValLeuArgAspPheTyrGluSerMetPheProIleProSerGlnPheGluLeuProArgGluTyrArgAsnArgPheLeuHisMetHisGluLeuGlnGluTrpArgAlaTyrArgAspLysLeuLysPheTrpThrHisCysValLeuAlaThrLeuIleMetPheThrIlePheSerPhePheAlaGluGlnLeuIleAlaLeuLysArgLysIlePheProArgArgArgIleHisLysGluAlaSerProAsnArgIleArgValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037723"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1127,
          "referenceAllele": "C",
          "start": 1126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_006719593.2:c.940C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719656.1:p.Gln314Ter",
        "hgvsWellDefined": "XP_006719656.1:p.Gln314_Asp1179delinsAspGluAspIleSerAlaSerArgPheGluAspAsnGluGluLeuArgTyrSerLeuArgSerIleGluArgHisAlaProTrpValArgAsnIlePheIleValThrAsnGlyGlnIleProSerTrpLeuAsnLeuAspAsnProArgValThrIleValThrHisGlnAspValPheArgAsnLeuSerHisLeuProThrPheSerSerProAlaIleGluSerHisIleHisArgIleGluGlyLeuSerGlnLysPheIleTyrLeuAsnAspAspValMetPheGlyLysAspValTrpProAspAspPheTyrSerHisSerLysGlyGlnLysValTyrLeuThrTrpProValProAsnCysAlaGluGlyCysProGlySerTrpIleLysAspGlyTyrCysAspLysAlaCysAsnAsnSerAlaCysAspTrpAspGlyGlyAspCysSerGlyAsnSerGlyGlySerArgTyrIleAlaGlyGlyGlyGlyThrGlySerIleGlyValGlyGlnProTrpGlnPheGlyGlyGlyIleAsnSerValSerTyrCysAsnGlnGlyCysAlaAsnSerTrpLeuAlaAspLysPheCysAspGlnAlaCysAsnValLeuSerCysGlyPheAspAlaGlyAspCysGlyGlnAspHisPheHisGluLeuTyrLysValIleLeuLeuProAsnGlnThrHisTyrIleIleProLysGlyGluCysLeuProTyrPheSerPheAlaGluValAlaLysArgGlyValGluGlyAlaTyrSerAspAsnProIleIleArgHisAlaSerIleAlaAsnLysTrpLysThrIleHisLeuIleMetHisSerGlyMetAsnAlaThrThrIleHisPheAsnLeuThrPheGlnAsnThrAsnAspGluGluPheLysMetGlnIleThrValGluValAspThrArgGluGlyProLysLeuAsnSerThrAlaGlnLysGlyTyrGluAsnLeuValSerProIleThrLeuLeuProGluAlaGluIleLeuPheGluAspIleProLysGluLysArgPheProLysPheLysArgHisAspValAsnSerThrArgArgAlaGlnGluGluValLysIleProLeuValAsnIleSerLeuLeuProLysAspAlaGlnLeuSerLeuAsnThrLeuAspLeuGlnLeuGluHisGlyAspIleThrLeuLysGlyTyrAsnLeuSerLysSerAlaLeuLeuArgSerPheLeuMetAsnSerGlnHisAlaLysIleLysAsnGlnAlaIleIleThrAspGluThrAsnAspSerLeuValAlaProGlnGluLysGlnValHisLysSerIleLeuProAsnSerLeuGlyValSerGluArgLeuGlnArgLeuThrPheProAlaValSerValLysValAsnGlyHisAspGlnGlyGlnAsnProProLeuAspLeuGluThrThrAlaArgPheArgValGluThrHisThrGlnLysThrIleGlyGlyAsnValThrLysGluLysProProSerLeuIleValProLeuGluSerGlnMetThrLysGluLysLysIleThrGlyLysGluLysGluAsnSerArgMetGluGluAsnAlaGluAsnHisIleGlyValThrGluValLeuLeuGlyArgLysLeuGlnHisTyrThrAspSerTyrLeuGlyPheLeuProTrpGluLysLysLysTyrPheGlnAspLeuLeuAspGluGluGluSerLeuLysThrGlnLeuAlaTyrPheThrAspSerLysAsnThrGlyArgGlnLeuLysAspThrPheAlaAspSerLeuArgTyrValAsnLysIleLeuAsnSerLysPheGlyPheThrSerArgLysValProAlaHisMetProHisMetIleAspArgIleValMetGlnGluLeuGlnAspMetPheProGluGluPheAspLysThrSerPheHisLysValArgHisSerGluAspMetGlnPheAlaPheSerTyrPheTyrTyrLeuMetSerAlaValGlnProLeuAsnIleSerGlnValPheAspGluValAspThrAspGlnSerGlyValLeuSerAspArgGluIleArgThrLeuAlaThrArgIleHisGluLeuProLeuSerLeuGlnAspLeuThrGlyLeuGluHisMetLeuIleAsnCysSerLysMetLeuProAlaAspIleThrGlnLeuAsnAsnIleProProThrGlnGluSerTyrTyrAspProAsnLeuProProValThrLysSerLeuValThrAsnCysLysProValThrAspLysIleHisLysAlaTyrLysAspLysAsnLysTyrArgPheGluIleMetGlyGluGluGluIleAlaPheLysMetIleArgThrAsnValSerHisValValGlyGlnLeuAspAspIleArgLysAsnProArgIleSerLeuCysCysProSerTrpAsnAlaValMetGlnThrTrpLeuThrValAlaSerThrSerTrpAlaGlnAlaIleLeuProProGlnProProAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073220"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1673,
          "referenceAllele": "C",
          "start": 1672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_011538731.1:c.859C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537033.1:p.Gln287Ter",
        "hgvsWellDefined": "XP_011537033.1:p.Gln287_Val1229delinsAspGluAspIleSerAlaSerArgPheGluAspAsnGluGluLeuArgTyrSerLeuArgSerIleGluArgHisAlaProTrpValArgAsnIlePheIleValThrAsnGlyGlnIleProSerTrpLeuAsnLeuAspAsnProArgValThrIleValThrHisGlnAspValPheArgAsnLeuSerHisLeuProThrPheSerSerProAlaIleGluSerHisIleHisArgIleGluGlyLeuSerGlnLysPheIleTyrLeuAsnAspAspValMetPheGlyLysAspValTrpProAspAspPheTyrSerHisSerLysGlyGlnLysValTyrLeuThrTrpProValProAsnCysAlaGluGlyCysProGlySerTrpIleLysAspGlyTyrCysAspLysAlaCysAsnAsnSerAlaCysAspTrpAspGlyGlyAspCysSerGlyAsnSerGlyGlySerArgTyrIleAlaGlyGlyGlyGlyThrGlySerIleGlyValGlyGlnProTrpGlnPheGlyGlyGlyIleAsnSerValSerTyrCysAsnGlnGlyCysAlaAsnSerTrpLeuAlaAspLysPheCysAspGlnAlaCysAsnValLeuSerCysGlyPheAspAlaGlyAspCysGlyGlnAspHisPheHisGluLeuTyrLysValIleLeuLeuProAsnGlnThrHisTyrIleIleProLysGlyGluCysLeuProTyrPheSerPheAlaGluValAlaLysArgGlyValGluGlyAlaTyrSerAspAsnProIleIleArgHisAlaSerIleAlaAsnLysTrpLysThrIleHisLeuIleMetHisSerGlyMetAsnAlaThrThrIleHisPheAsnLeuThrPheGlnAsnThrAsnAspGluGluPheLysMetGlnIleThrValGluValAspThrArgGluGlyProLysLeuAsnSerThrAlaGlnLysGlyTyrGluAsnLeuValSerProIleThrLeuLeuProGluAlaGluIleLeuPheGluAspIleProLysGluLysArgPheProLysPheLysArgHisAspValAsnSerThrArgArgAlaGlnGluGluValLysIleProLeuValAsnIleSerLeuLeuProLysAspAlaGlnLeuSerLeuAsnThrLeuAspLeuGlnLeuGluHisGlyAspIleThrLeuLysGlyTyrAsnLeuSerLysSerAlaLeuLeuArgSerPheLeuMetAsnSerGlnHisAlaLysIleLysAsnGlnAlaIleIleThrAspGluThrAsnAspSerLeuValAlaProGlnGluLysGlnValHisLysSerIleLeuProAsnSerLeuGlyValSerGluArgLeuGlnArgLeuThrPheProAlaValSerValLysValAsnGlyHisAspGlnGlyGlnAsnProProLeuAspLeuGluThrThrAlaArgPheArgValGluThrHisThrGlnLysThrIleGlyGlyAsnValThrLysGluLysProProSerLeuIleValProLeuGluSerGlnMetThrLysGluLysLysIleThrGlyLysGluLysGluAsnSerArgMetGluGluAsnAlaGluAsnHisIleGlyValThrGluValLeuLeuGlyArgLysLeuGlnHisTyrThrAspSerTyrLeuGlyPheLeuProTrpGluLysLysLysTyrPheGlnAspLeuLeuAspGluGluGluSerLeuLysThrGlnLeuAlaTyrPheThrAspSerLysAsnThrGlyArgGlnLeuLysAspThrPheAlaAspSerLeuArgTyrValAsnLysIleLeuAsnSerLysPheGlyPheThrSerArgLysValProAlaHisMetProHisMetIleAspArgIleValMetGlnGluLeuGlnAspMetPheProGluGluPheAspLysThrSerPheHisLysValArgHisSerGluAspMetGlnPheAlaPheSerTyrPheTyrTyrLeuMetSerAlaValGlnProLeuAsnIleSerGlnValPheAspGluValAspThrAspGlnSerGlyValLeuSerAspArgGluIleArgThrLeuAlaThrArgIleHisGluLeuProLeuSerLeuGlnAspLeuThrGlyLeuGluHisMetLeuIleAsnCysSerLysMetLeuProAlaAspIleThrGlnLeuAsnAsnIleProProThrGlnGluSerTyrTyrAspProAsnLeuProProValThrLysSerLeuValThrAsnCysLysProValThrAspLysIleHisLysAlaTyrLysAspLysAsnLysTyrArgPheGluIleMetGlyGluGluGluIleAlaPheLysMetIleArgThrAsnValSerHisValValGlyGlnLeuAspAspIleArgLysAsnProArgLysPheValCysLeuAsnAspAsnIleAspHisAsnHisLysAspAlaGlnThrValLysAlaValLeuArgAspPheTyrGluSerMetPheProIleProSerGlnPheGluLeuProArgGluTyrArgAsnArgPheLeuHisMetHisGluLeuGlnGluTrpArgAlaTyrArgAspLysLeuLysPheTrpThrHisCysValLeuAlaThrLeuIleMetPheThrIlePheSerPhePheAlaGluGlnLeuIleAlaLeuLysArgLysIlePheProArgArgArgIleHisLysGluAlaSerProAsnArgIleArgValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105685"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1083,
          "referenceAllele": "C",
          "start": 1082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_006719593.3:c.940C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719656.1:p.Gln314Ter",
        "hgvsWellDefined": "XP_006719656.1:p.Gln314_Asp1179delinsAspGluAspIleSerAlaSerArgPheGluAspAsnGluGluLeuArgTyrSerLeuArgSerIleGluArgHisAlaProTrpValArgAsnIlePheIleValThrAsnGlyGlnIleProSerTrpLeuAsnLeuAspAsnProArgValThrIleValThrHisGlnAspValPheArgAsnLeuSerHisLeuProThrPheSerSerProAlaIleGluSerHisIleHisArgIleGluGlyLeuSerGlnLysPheIleTyrLeuAsnAspAspValMetPheGlyLysAspValTrpProAspAspPheTyrSerHisSerLysGlyGlnLysValTyrLeuThrTrpProValProAsnCysAlaGluGlyCysProGlySerTrpIleLysAspGlyTyrCysAspLysAlaCysAsnAsnSerAlaCysAspTrpAspGlyGlyAspCysSerGlyAsnSerGlyGlySerArgTyrIleAlaGlyGlyGlyGlyThrGlySerIleGlyValGlyGlnProTrpGlnPheGlyGlyGlyIleAsnSerValSerTyrCysAsnGlnGlyCysAlaAsnSerTrpLeuAlaAspLysPheCysAspGlnAlaCysAsnValLeuSerCysGlyPheAspAlaGlyAspCysGlyGlnAspHisPheHisGluLeuTyrLysValIleLeuLeuProAsnGlnThrHisTyrIleIleProLysGlyGluCysLeuProTyrPheSerPheAlaGluValAlaLysArgGlyValGluGlyAlaTyrSerAspAsnProIleIleArgHisAlaSerIleAlaAsnLysTrpLysThrIleHisLeuIleMetHisSerGlyMetAsnAlaThrThrIleHisPheAsnLeuThrPheGlnAsnThrAsnAspGluGluPheLysMetGlnIleThrValGluValAspThrArgGluGlyProLysLeuAsnSerThrAlaGlnLysGlyTyrGluAsnLeuValSerProIleThrLeuLeuProGluAlaGluIleLeuPheGluAspIleProLysGluLysArgPheProLysPheLysArgHisAspValAsnSerThrArgArgAlaGlnGluGluValLysIleProLeuValAsnIleSerLeuLeuProLysAspAlaGlnLeuSerLeuAsnThrLeuAspLeuGlnLeuGluHisGlyAspIleThrLeuLysGlyTyrAsnLeuSerLysSerAlaLeuLeuArgSerPheLeuMetAsnSerGlnHisAlaLysIleLysAsnGlnAlaIleIleThrAspGluThrAsnAspSerLeuValAlaProGlnGluLysGlnValHisLysSerIleLeuProAsnSerLeuGlyValSerGluArgLeuGlnArgLeuThrPheProAlaValSerValLysValAsnGlyHisAspGlnGlyGlnAsnProProLeuAspLeuGluThrThrAlaArgPheArgValGluThrHisThrGlnLysThrIleGlyGlyAsnValThrLysGluLysProProSerLeuIleValProLeuGluSerGlnMetThrLysGluLysLysIleThrGlyLysGluLysGluAsnSerArgMetGluGluAsnAlaGluAsnHisIleGlyValThrGluValLeuLeuGlyArgLysLeuGlnHisTyrThrAspSerTyrLeuGlyPheLeuProTrpGluLysLysLysTyrPheGlnAspLeuLeuAspGluGluGluSerLeuLysThrGlnLeuAlaTyrPheThrAspSerLysAsnThrGlyArgGlnLeuLysAspThrPheAlaAspSerLeuArgTyrValAsnLysIleLeuAsnSerLysPheGlyPheThrSerArgLysValProAlaHisMetProHisMetIleAspArgIleValMetGlnGluLeuGlnAspMetPheProGluGluPheAspLysThrSerPheHisLysValArgHisSerGluAspMetGlnPheAlaPheSerTyrPheTyrTyrLeuMetSerAlaValGlnProLeuAsnIleSerGlnValPheAspGluValAspThrAspGlnSerGlyValLeuSerAspArgGluIleArgThrLeuAlaThrArgIleHisGluLeuProLeuSerLeuGlnAspLeuThrGlyLeuGluHisMetLeuIleAsnCysSerLysMetLeuProAlaAspIleThrGlnLeuAsnAsnIleProProThrGlnGluSerTyrTyrAspProAsnLeuProProValThrLysSerLeuValThrAsnCysLysProValThrAspLysIleHisLysAlaTyrLysAspLysAsnLysTyrArgPheGluIleMetGlyGluGluGluIleAlaPheLysMetIleArgThrAsnValSerHisValValGlyGlnLeuAspAspIleArgLysAsnProArgIleSerLeuCysCysProSerTrpAsnAlaValMetGlnThrTrpLeuThrValAlaSerThrSerTrpAlaGlnAlaIleLeuProProGlnProProAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539901"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1128,
          "referenceAllele": "C",
          "start": 1127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_011538731.2:c.859C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537033.1:p.Gln287Ter",
        "hgvsWellDefined": "XP_011537033.1:p.Gln287_Val1229delinsAspGluAspIleSerAlaSerArgPheGluAspAsnGluGluLeuArgTyrSerLeuArgSerIleGluArgHisAlaProTrpValArgAsnIlePheIleValThrAsnGlyGlnIleProSerTrpLeuAsnLeuAspAsnProArgValThrIleValThrHisGlnAspValPheArgAsnLeuSerHisLeuProThrPheSerSerProAlaIleGluSerHisIleHisArgIleGluGlyLeuSerGlnLysPheIleTyrLeuAsnAspAspValMetPheGlyLysAspValTrpProAspAspPheTyrSerHisSerLysGlyGlnLysValTyrLeuThrTrpProValProAsnCysAlaGluGlyCysProGlySerTrpIleLysAspGlyTyrCysAspLysAlaCysAsnAsnSerAlaCysAspTrpAspGlyGlyAspCysSerGlyAsnSerGlyGlySerArgTyrIleAlaGlyGlyGlyGlyThrGlySerIleGlyValGlyGlnProTrpGlnPheGlyGlyGlyIleAsnSerValSerTyrCysAsnGlnGlyCysAlaAsnSerTrpLeuAlaAspLysPheCysAspGlnAlaCysAsnValLeuSerCysGlyPheAspAlaGlyAspCysGlyGlnAspHisPheHisGluLeuTyrLysValIleLeuLeuProAsnGlnThrHisTyrIleIleProLysGlyGluCysLeuProTyrPheSerPheAlaGluValAlaLysArgGlyValGluGlyAlaTyrSerAspAsnProIleIleArgHisAlaSerIleAlaAsnLysTrpLysThrIleHisLeuIleMetHisSerGlyMetAsnAlaThrThrIleHisPheAsnLeuThrPheGlnAsnThrAsnAspGluGluPheLysMetGlnIleThrValGluValAspThrArgGluGlyProLysLeuAsnSerThrAlaGlnLysGlyTyrGluAsnLeuValSerProIleThrLeuLeuProGluAlaGluIleLeuPheGluAspIleProLysGluLysArgPheProLysPheLysArgHisAspValAsnSerThrArgArgAlaGlnGluGluValLysIleProLeuValAsnIleSerLeuLeuProLysAspAlaGlnLeuSerLeuAsnThrLeuAspLeuGlnLeuGluHisGlyAspIleThrLeuLysGlyTyrAsnLeuSerLysSerAlaLeuLeuArgSerPheLeuMetAsnSerGlnHisAlaLysIleLysAsnGlnAlaIleIleThrAspGluThrAsnAspSerLeuValAlaProGlnGluLysGlnValHisLysSerIleLeuProAsnSerLeuGlyValSerGluArgLeuGlnArgLeuThrPheProAlaValSerValLysValAsnGlyHisAspGlnGlyGlnAsnProProLeuAspLeuGluThrThrAlaArgPheArgValGluThrHisThrGlnLysThrIleGlyGlyAsnValThrLysGluLysProProSerLeuIleValProLeuGluSerGlnMetThrLysGluLysLysIleThrGlyLysGluLysGluAsnSerArgMetGluGluAsnAlaGluAsnHisIleGlyValThrGluValLeuLeuGlyArgLysLeuGlnHisTyrThrAspSerTyrLeuGlyPheLeuProTrpGluLysLysLysTyrPheGlnAspLeuLeuAspGluGluGluSerLeuLysThrGlnLeuAlaTyrPheThrAspSerLysAsnThrGlyArgGlnLeuLysAspThrPheAlaAspSerLeuArgTyrValAsnLysIleLeuAsnSerLysPheGlyPheThrSerArgLysValProAlaHisMetProHisMetIleAspArgIleValMetGlnGluLeuGlnAspMetPheProGluGluPheAspLysThrSerPheHisLysValArgHisSerGluAspMetGlnPheAlaPheSerTyrPheTyrTyrLeuMetSerAlaValGlnProLeuAsnIleSerGlnValPheAspGluValAspThrAspGlnSerGlyValLeuSerAspArgGluIleArgThrLeuAlaThrArgIleHisGluLeuProLeuSerLeuGlnAspLeuThrGlyLeuGluHisMetLeuIleAsnCysSerLysMetLeuProAlaAspIleThrGlnLeuAsnAsnIleProProThrGlnGluSerTyrTyrAspProAsnLeuProProValThrLysSerLeuValThrAsnCysLysProValThrAspLysIleHisLysAlaTyrLysAspLysAsnLysTyrArgPheGluIleMetGlyGluGluGluIleAlaPheLysMetIleArgThrAsnValSerHisValValGlyGlnLeuAspAspIleArgLysAsnProArgLysPheValCysLeuAsnAspAsnIleAspHisAsnHisLysAspAlaGlnThrValLysAlaValLeuArgAspPheTyrGluSerMetPheProIleProSerGlnPheGluLeuProArgGluTyrArgAsnArgPheLeuHisMetHisGluLeuGlnGluTrpArgAlaTyrArgAspLysLeuLysPheTrpThrHisCysValLeuAlaThrLeuIleMetPheThrIlePheSerPhePheAlaGluGlnLeuIleAlaLeuLysArgLysIlePheProArgArgArgIleHisLysGluAlaSerProAsnArgIleArgValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553386"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1029,
          "referenceAllele": "C",
          "start": 1028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_017019961.1:c.724C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875450.1:p.Gln242Ter",
        "hgvsWellDefined": "XP_016875450.1:p.Gln242_Val1184delinsAspGluAspIleSerAlaSerArgPheGluAspAsnGluGluLeuArgTyrSerLeuArgSerIleGluArgHisAlaProTrpValArgAsnIlePheIleValThrAsnGlyGlnIleProSerTrpLeuAsnLeuAspAsnProArgValThrIleValThrHisGlnAspValPheArgAsnLeuSerHisLeuProThrPheSerSerProAlaIleGluSerHisIleHisArgIleGluGlyLeuSerGlnLysPheIleTyrLeuAsnAspAspValMetPheGlyLysAspValTrpProAspAspPheTyrSerHisSerLysGlyGlnLysValTyrLeuThrTrpProValProAsnCysAlaGluGlyCysProGlySerTrpIleLysAspGlyTyrCysAspLysAlaCysAsnAsnSerAlaCysAspTrpAspGlyGlyAspCysSerGlyAsnSerGlyGlySerArgTyrIleAlaGlyGlyGlyGlyThrGlySerIleGlyValGlyGlnProTrpGlnPheGlyGlyGlyIleAsnSerValSerTyrCysAsnGlnGlyCysAlaAsnSerTrpLeuAlaAspLysPheCysAspGlnAlaCysAsnValLeuSerCysGlyPheAspAlaGlyAspCysGlyGlnAspHisPheHisGluLeuTyrLysValIleLeuLeuProAsnGlnThrHisTyrIleIleProLysGlyGluCysLeuProTyrPheSerPheAlaGluValAlaLysArgGlyValGluGlyAlaTyrSerAspAsnProIleIleArgHisAlaSerIleAlaAsnLysTrpLysThrIleHisLeuIleMetHisSerGlyMetAsnAlaThrThrIleHisPheAsnLeuThrPheGlnAsnThrAsnAspGluGluPheLysMetGlnIleThrValGluValAspThrArgGluGlyProLysLeuAsnSerThrAlaGlnLysGlyTyrGluAsnLeuValSerProIleThrLeuLeuProGluAlaGluIleLeuPheGluAspIleProLysGluLysArgPheProLysPheLysArgHisAspValAsnSerThrArgArgAlaGlnGluGluValLysIleProLeuValAsnIleSerLeuLeuProLysAspAlaGlnLeuSerLeuAsnThrLeuAspLeuGlnLeuGluHisGlyAspIleThrLeuLysGlyTyrAsnLeuSerLysSerAlaLeuLeuArgSerPheLeuMetAsnSerGlnHisAlaLysIleLysAsnGlnAlaIleIleThrAspGluThrAsnAspSerLeuValAlaProGlnGluLysGlnValHisLysSerIleLeuProAsnSerLeuGlyValSerGluArgLeuGlnArgLeuThrPheProAlaValSerValLysValAsnGlyHisAspGlnGlyGlnAsnProProLeuAspLeuGluThrThrAlaArgPheArgValGluThrHisThrGlnLysThrIleGlyGlyAsnValThrLysGluLysProProSerLeuIleValProLeuGluSerGlnMetThrLysGluLysLysIleThrGlyLysGluLysGluAsnSerArgMetGluGluAsnAlaGluAsnHisIleGlyValThrGluValLeuLeuGlyArgLysLeuGlnHisTyrThrAspSerTyrLeuGlyPheLeuProTrpGluLysLysLysTyrPheGlnAspLeuLeuAspGluGluGluSerLeuLysThrGlnLeuAlaTyrPheThrAspSerLysAsnThrGlyArgGlnLeuLysAspThrPheAlaAspSerLeuArgTyrValAsnLysIleLeuAsnSerLysPheGlyPheThrSerArgLysValProAlaHisMetProHisMetIleAspArgIleValMetGlnGluLeuGlnAspMetPheProGluGluPheAspLysThrSerPheHisLysValArgHisSerGluAspMetGlnPheAlaPheSerTyrPheTyrTyrLeuMetSerAlaValGlnProLeuAsnIleSerGlnValPheAspGluValAspThrAspGlnSerGlyValLeuSerAspArgGluIleArgThrLeuAlaThrArgIleHisGluLeuProLeuSerLeuGlnAspLeuThrGlyLeuGluHisMetLeuIleAsnCysSerLysMetLeuProAlaAspIleThrGlnLeuAsnAsnIleProProThrGlnGluSerTyrTyrAspProAsnLeuProProValThrLysSerLeuValThrAsnCysLysProValThrAspLysIleHisLysAlaTyrLysAspLysAsnLysTyrArgPheGluIleMetGlyGluGluGluIleAlaPheLysMetIleArgThrAsnValSerHisValValGlyGlnLeuAspAspIleArgLysAsnProArgLysPheValCysLeuAsnAspAsnIleAspHisAsnHisLysAspAlaGlnThrValLysAlaValLeuArgAspPheTyrGluSerMetPheProIleProSerGlnPheGluLeuProArgGluTyrArgAsnArgPheLeuHisMetHisGluLeuGlnGluTrpArgAlaTyrArgAspLysLeuLysPheTrpThrHisCysValLeuAlaThrLeuIleMetPheThrIlePheSerPhePheAlaGluGlnLeuIleAlaLeuLysArgLysIlePheProArgArgArgIleHisLysGluAlaSerProAsnArgIleArgValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571537"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1206,
          "referenceAllele": "C",
          "start": 1205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_017019962.2:c.-288C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875451.1:n.-288C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571538"
    },
    {
      "@id": "http://reg.genome.network/allele/PA343419",
      "coordinates": [
        {
          "allele": "T",
          "end": 1224,
          "referenceAllele": "C",
          "start": 1223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "NM_024312.5:c.940C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_077288.2:p.Gln314Ter",
        "hgvsWellDefined": "NP_077288.2:p.Gln314_Val1256delinsAspGluAspIleSerAlaSerArgPheGluAspAsnGluGluLeuArgTyrSerLeuArgSerIleGluArgHisAlaProTrpValArgAsnIlePheIleValThrAsnGlyGlnIleProSerTrpLeuAsnLeuAspAsnProArgValThrIleValThrHisGlnAspValPheArgAsnLeuSerHisLeuProThrPheSerSerProAlaIleGluSerHisIleHisArgIleGluGlyLeuSerGlnLysPheIleTyrLeuAsnAspAspValMetPheGlyLysAspValTrpProAspAspPheTyrSerHisSerLysGlyGlnLysValTyrLeuThrTrpProValProAsnCysAlaGluGlyCysProGlySerTrpIleLysAspGlyTyrCysAspLysAlaCysAsnAsnSerAlaCysAspTrpAspGlyGlyAspCysSerGlyAsnSerGlyGlySerArgTyrIleAlaGlyGlyGlyGlyThrGlySerIleGlyValGlyGlnProTrpGlnPheGlyGlyGlyIleAsnSerValSerTyrCysAsnGlnGlyCysAlaAsnSerTrpLeuAlaAspLysPheCysAspGlnAlaCysAsnValLeuSerCysGlyPheAspAlaGlyAspCysGlyGlnAspHisPheHisGluLeuTyrLysValIleLeuLeuProAsnGlnThrHisTyrIleIleProLysGlyGluCysLeuProTyrPheSerPheAlaGluValAlaLysArgGlyValGluGlyAlaTyrSerAspAsnProIleIleArgHisAlaSerIleAlaAsnLysTrpLysThrIleHisLeuIleMetHisSerGlyMetAsnAlaThrThrIleHisPheAsnLeuThrPheGlnAsnThrAsnAspGluGluPheLysMetGlnIleThrValGluValAspThrArgGluGlyProLysLeuAsnSerThrAlaGlnLysGlyTyrGluAsnLeuValSerProIleThrLeuLeuProGluAlaGluIleLeuPheGluAspIleProLysGluLysArgPheProLysPheLysArgHisAspValAsnSerThrArgArgAlaGlnGluGluValLysIleProLeuValAsnIleSerLeuLeuProLysAspAlaGlnLeuSerLeuAsnThrLeuAspLeuGlnLeuGluHisGlyAspIleThrLeuLysGlyTyrAsnLeuSerLysSerAlaLeuLeuArgSerPheLeuMetAsnSerGlnHisAlaLysIleLysAsnGlnAlaIleIleThrAspGluThrAsnAspSerLeuValAlaProGlnGluLysGlnValHisLysSerIleLeuProAsnSerLeuGlyValSerGluArgLeuGlnArgLeuThrPheProAlaValSerValLysValAsnGlyHisAspGlnGlyGlnAsnProProLeuAspLeuGluThrThrAlaArgPheArgValGluThrHisThrGlnLysThrIleGlyGlyAsnValThrLysGluLysProProSerLeuIleValProLeuGluSerGlnMetThrLysGluLysLysIleThrGlyLysGluLysGluAsnSerArgMetGluGluAsnAlaGluAsnHisIleGlyValThrGluValLeuLeuGlyArgLysLeuGlnHisTyrThrAspSerTyrLeuGlyPheLeuProTrpGluLysLysLysTyrPheGlnAspLeuLeuAspGluGluGluSerLeuLysThrGlnLeuAlaTyrPheThrAspSerLysAsnThrGlyArgGlnLeuLysAspThrPheAlaAspSerLeuArgTyrValAsnLysIleLeuAsnSerLysPheGlyPheThrSerArgLysValProAlaHisMetProHisMetIleAspArgIleValMetGlnGluLeuGlnAspMetPheProGluGluPheAspLysThrSerPheHisLysValArgHisSerGluAspMetGlnPheAlaPheSerTyrPheTyrTyrLeuMetSerAlaValGlnProLeuAsnIleSerGlnValPheAspGluValAspThrAspGlnSerGlyValLeuSerAspArgGluIleArgThrLeuAlaThrArgIleHisGluLeuProLeuSerLeuGlnAspLeuThrGlyLeuGluHisMetLeuIleAsnCysSerLysMetLeuProAlaAspIleThrGlnLeuAsnAsnIleProProThrGlnGluSerTyrTyrAspProAsnLeuProProValThrLysSerLeuValThrAsnCysLysProValThrAspLysIleHisLysAlaTyrLysAspLysAsnLysTyrArgPheGluIleMetGlyGluGluGluIleAlaPheLysMetIleArgThrAsnValSerHisValValGlyGlnLeuAspAspIleArgLysAsnProArgLysPheValCysLeuAsnAspAsnIleAspHisAsnHisLysAspAlaGlnThrValLysAlaValLeuArgAspPheTyrGluSerMetPheProIleProSerGlnPheGluLeuProArgGluTyrArgAsnArgPheLeuHisMetHisGluLeuGlnGluTrpArgAlaTyrArgAspLysLeuLysPheTrpThrHisCysValLeuAlaThrLeuIleMetPheThrIlePheSerPhePheAlaGluGlnLeuIleAlaLeuLysArgLysIlePheProArgArgArgIleHisLysGluAlaSerProAsnArgIleArgValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670629",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299314.12:c.940C>T"
          },
          "RefSeq": {
            "hgvs": "NM_024312.5:c.940C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299314.7:p.Gln314Ter"
          },
          "RefSeq": {
            "hgvs": "NP_077288.2:p.Gln314Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}