{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA397949792",
  "communityStandardTitle": [
    "NM_000180.4(GUCY2D):c.1633C>T (p.Gln545Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=676976[alleleid]",
        "alleleId": 676976,
        "preferredName": "NM_000180.4(GUCY2D):c.1633C>T (p.Gln545Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/689384",
        "RCV": [
          "RCV000850097",
          "RCV000850098",
          "RCV003768615"
        ],
        "variationId": 689384
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.7911315C>T?assembly=hg19",
        "id": "chr17:g.7911315C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.8007997C>T?assembly=hg38",
        "id": "chr17:g.8007997C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1290420698",
        "rs": 1290420698
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-8007997-C-T?dataset=gnomad_r3",
        "id": "17-8007997-C-T",
        "variant": "17:8007997 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-8007997-C-T?dataset=gnomad_r4",
        "id": "17-8007997-C-T",
        "variant": "17:8007997 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 8007997,
          "referenceAllele": "C",
          "start": 8007996
        }
      ],
      "hgvs": [
        "NC_000017.11:g.8007997C>T",
        "CM000679.2:g.8007997C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 7911315,
          "referenceAllele": "C",
          "start": 7911314
        }
      ],
      "hgvs": [
        "NC_000017.10:g.7911315C>T",
        "CM000679.1:g.7911315C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 7852040,
          "referenceAllele": "C",
          "start": 7852039
        }
      ],
      "hgvs": [
        "NC_000017.9:g.7852040C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10328,
          "referenceAllele": "C",
          "start": 10327
        }
      ],
      "hgvs": [
        "NG_009092.1:g.10328C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001425"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1762,
          "referenceAllele": "C",
          "start": 1761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004689",
      "geneNCBI_id": 3000,
      "geneSymbol": "GUCY2D",
      "hgvs": [
        "ENST00000254854.5:c.1633C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000254854.4:p.Gln545Ter",
        "hgvsWellDefined": "ENSP00000254854.4:p.Gln545_Ser1103delinsHisLeuAspSerProAsnIleGlyValTyrGluGlyAspArgValTrpLeuLysLysPheProGlyAspGlnHisIleAlaIleArgProAlaThrLysThrAlaPheSerLysLeuGlnGluLeuArgHisGluAsnValAlaLeuTyrLeuGlyLeuPheLeuAlaArgGlyAlaGluGlyProAlaAlaLeuTrpGluGlyAsnLeuAlaValValSerGluHisCysThrArgGlySerLeuGlnAspLeuLeuAlaGlnArgGluIleLysLeuAspTrpMetPheLysSerSerLeuLeuLeuAspLeuIleLysGlyIleArgTyrLeuHisHisArgGlyValAlaHisGlyArgLeuLysSerArgAsnCysIleValAspGlyArgPheValLeuLysIleThrAspHisGlyHisGlyArgLeuLeuGluAlaGlnLysValLeuProGluProProArgAlaGluAspGlnLeuTrpThrAlaProGluLeuLeuArgAspProAlaLeuGluArgArgGlyThrLeuAlaGlyAspValPheSerLeuAlaIleIleMetGlnGluValValCysArgSerAlaProTyrAlaMetLeuGluLeuThrProGluGluValValGlnArgValArgSerProProProLeuCysArgProLeuValSerMetAspGlnAlaProValGluCysIleLeuLeuMetLysGlnCysTrpAlaGluGlnProGluLeuArgProSerMetAspHisThrPheAspLeuPheLysAsnIleAsnLysGlyArgLysThrAsnIleIleAspSerMetLeuArgMetLeuGluGlnTyrSerSerAsnLeuGluAspLeuIleArgGluArgThrGluGluLeuGluLeuGluLysGlnLysThrAspArgLeuLeuThrGlnMetLeuProProSerValAlaGluAlaLeuLysThrGlyThrProValGluProGluTyrPheGluGlnValThrLeuTyrPheSerAspIleValGlyPheThrThrIleSerAlaMetSerGluProIleGluValValAspLeuLeuAsnAspLeuTyrThrLeuPheAspAlaIleIleGlySerHisAspValTyrLysValGluThrIleGlyAspAlaTyrMetValAlaSerGlyLeuProGlnArgAsnGlyGlnArgHisAlaAlaGluIleAlaAsnMetSerLeuAspIleLeuSerAlaValGlyThrPheArgMetArgHisMetProGluValProValArgIleArgIleGlyLeuHisSerGlyProCysValAlaGlyValValGlyLeuThrMetProArgTyrCysLeuPheGlyAspThrValAsnThrAlaSerArgMetGluSerThrGlyLeuProTyrArgIleHisValAsnLeuSerThrValGlyIleLeuArgAlaLeuAspSerGlyTyrGlnValGluLeuArgGlyArgThrGluLeuLysGlyLysGlyAlaGluAspThrPheTrpLeuValGlyArgArgGlyPheAsnLysProIleProLysProProAspLeuGlnProGlySerSerAsnHisGlyIleSerLeuGlnGluIleProProGluArgArgArgLysLeuGluLysAlaArgProGlyGlnPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741685",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000254854.5:c.1633C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000180.4:c.1633C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000254854.4:p.Gln545Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000171.1:p.Gln545Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1783,
          "referenceAllele": "C",
          "start": 1782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004689",
      "geneNCBI_id": 3000,
      "geneSymbol": "GUCY2D",
      "hgvs": [
        "ENST00000254854.4:c.1633C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000254854.4:p.Gln545Ter",
        "hgvsWellDefined": "ENSP00000254854.4:p.Gln545_Ser1103delinsHisLeuAspSerProAsnIleGlyValTyrGluGlyAspArgValTrpLeuLysLysPheProGlyAspGlnHisIleAlaIleArgProAlaThrLysThrAlaPheSerLysLeuGlnGluLeuArgHisGluAsnValAlaLeuTyrLeuGlyLeuPheLeuAlaArgGlyAlaGluGlyProAlaAlaLeuTrpGluGlyAsnLeuAlaValValSerGluHisCysThrArgGlySerLeuGlnAspLeuLeuAlaGlnArgGluIleLysLeuAspTrpMetPheLysSerSerLeuLeuLeuAspLeuIleLysGlyIleArgTyrLeuHisHisArgGlyValAlaHisGlyArgLeuLysSerArgAsnCysIleValAspGlyArgPheValLeuLysIleThrAspHisGlyHisGlyArgLeuLeuGluAlaGlnLysValLeuProGluProProArgAlaGluAspGlnLeuTrpThrAlaProGluLeuLeuArgAspProAlaLeuGluArgArgGlyThrLeuAlaGlyAspValPheSerLeuAlaIleIleMetGlnGluValValCysArgSerAlaProTyrAlaMetLeuGluLeuThrProGluGluValValGlnArgValArgSerProProProLeuCysArgProLeuValSerMetAspGlnAlaProValGluCysIleLeuLeuMetLysGlnCysTrpAlaGluGlnProGluLeuArgProSerMetAspHisThrPheAspLeuPheLysAsnIleAsnLysGlyArgLysThrAsnIleIleAspSerMetLeuArgMetLeuGluGlnTyrSerSerAsnLeuGluAspLeuIleArgGluArgThrGluGluLeuGluLeuGluLysGlnLysThrAspArgLeuLeuThrGlnMetLeuProProSerValAlaGluAlaLeuLysThrGlyThrProValGluProGluTyrPheGluGlnValThrLeuTyrPheSerAspIleValGlyPheThrThrIleSerAlaMetSerGluProIleGluValValAspLeuLeuAsnAspLeuTyrThrLeuPheAspAlaIleIleGlySerHisAspValTyrLysValGluThrIleGlyAspAlaTyrMetValAlaSerGlyLeuProGlnArgAsnGlyGlnArgHisAlaAlaGluIleAlaAsnMetSerLeuAspIleLeuSerAlaValGlyThrPheArgMetArgHisMetProGluValProValArgIleArgIleGlyLeuHisSerGlyProCysValAlaGlyValValGlyLeuThrMetProArgTyrCysLeuPheGlyAspThrValAsnThrAlaSerArgMetGluSerThrGlyLeuProTyrArgIleHisValAsnLeuSerThrValGlyIleLeuArgAlaLeuAspSerGlyTyrGlnValGluLeuArgGlyArgThrGluLeuLysGlyLysGlyAlaGluAspThrPheTrpLeuValGlyArgArgGlyPheAsnLysProIleProLysProProAspLeuGlnProGlySerSerAsnHisGlyIleSerLeuGlnGluIleProProGluArgArgArgLysLeuGluLysAlaArgProGlyGlnPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250049"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915965311",
      "coordinates": [
        {
          "allele": "T",
          "end": 1707,
          "referenceAllele": "C",
          "start": 1706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004689",
      "geneNCBI_id": 3000,
      "geneSymbol": "GUCY2D",
      "hgvs": [
        "NM_000180.3:c.1633C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000171.1:p.Gln545Ter",
        "hgvsWellDefined": "NP_000171.1:p.Gln545_Ser1103delinsHisLeuAspSerProAsnIleGlyValTyrGluGlyAspArgValTrpLeuLysLysPheProGlyAspGlnHisIleAlaIleArgProAlaThrLysThrAlaPheSerLysLeuGlnGluLeuArgHisGluAsnValAlaLeuTyrLeuGlyLeuPheLeuAlaArgGlyAlaGluGlyProAlaAlaLeuTrpGluGlyAsnLeuAlaValValSerGluHisCysThrArgGlySerLeuGlnAspLeuLeuAlaGlnArgGluIleLysLeuAspTrpMetPheLysSerSerLeuLeuLeuAspLeuIleLysGlyIleArgTyrLeuHisHisArgGlyValAlaHisGlyArgLeuLysSerArgAsnCysIleValAspGlyArgPheValLeuLysIleThrAspHisGlyHisGlyArgLeuLeuGluAlaGlnLysValLeuProGluProProArgAlaGluAspGlnLeuTrpThrAlaProGluLeuLeuArgAspProAlaLeuGluArgArgGlyThrLeuAlaGlyAspValPheSerLeuAlaIleIleMetGlnGluValValCysArgSerAlaProTyrAlaMetLeuGluLeuThrProGluGluValValGlnArgValArgSerProProProLeuCysArgProLeuValSerMetAspGlnAlaProValGluCysIleLeuLeuMetLysGlnCysTrpAlaGluGlnProGluLeuArgProSerMetAspHisThrPheAspLeuPheLysAsnIleAsnLysGlyArgLysThrAsnIleIleAspSerMetLeuArgMetLeuGluGlnTyrSerSerAsnLeuGluAspLeuIleArgGluArgThrGluGluLeuGluLeuGluLysGlnLysThrAspArgLeuLeuThrGlnMetLeuProProSerValAlaGluAlaLeuLysThrGlyThrProValGluProGluTyrPheGluGlnValThrLeuTyrPheSerAspIleValGlyPheThrThrIleSerAlaMetSerGluProIleGluValValAspLeuLeuAsnAspLeuTyrThrLeuPheAspAlaIleIleGlySerHisAspValTyrLysValGluThrIleGlyAspAlaTyrMetValAlaSerGlyLeuProGlnArgAsnGlyGlnArgHisAlaAlaGluIleAlaAsnMetSerLeuAspIleLeuSerAlaValGlyThrPheArgMetArgHisMetProGluValProValArgIleArgIleGlyLeuHisSerGlyProCysValAlaGlyValValGlyLeuThrMetProArgTyrCysLeuPheGlyAspThrValAsnThrAlaSerArgMetGluSerThrGlyLeuProTyrArgIleHisValAsnLeuSerThrValGlyIleLeuArgAlaLeuAspSerGlyTyrGlnValGluLeuArgGlyArgThrGluLeuLysGlyLysGlyAlaGluAspThrPheTrpLeuValGlyArgArgGlyPheAsnLysProIleProLysProProAspLeuGlnProGlySerSerAsnHisGlyIleSerLeuGlnGluIleProProGluArgArgArgLysLeuGluLysAlaArgProGlyGlnPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006242"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1633,
          "referenceAllele": "C",
          "start": 1632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004689",
      "geneNCBI_id": 3000,
      "geneSymbol": "GUCY2D",
      "hgvs": [
        "XM_011523816.1:c.1633C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522118.1:p.Gln545Ter",
        "hgvsWellDefined": "XP_011522118.1:p.Gln545_Ser1103delinsHisLeuAspSerProAsnIleGlyValTyrGluGlyAspArgValTrpLeuLysLysPheProGlyAspGlnHisIleAlaIleArgProAlaThrLysThrAlaPheSerLysLeuGlnGluLeuArgHisGluAsnValAlaLeuTyrLeuGlyLeuPheLeuAlaArgGlyAlaGluGlyProAlaAlaLeuTrpGluGlyAsnLeuAlaValValSerGluHisCysThrArgGlySerLeuGlnAspLeuLeuAlaGlnArgGluIleLysLeuAspTrpMetPheLysSerSerLeuLeuLeuAspLeuIleLysGlyIleArgTyrLeuHisHisArgGlyValAlaHisGlyArgLeuLysSerArgAsnCysIleValAspGlyArgPheValLeuLysIleThrAspHisGlyHisGlyArgLeuLeuGluAlaGlnLysValLeuProGluProProArgAlaGluAspGlnLeuTrpThrAlaProGluLeuLeuArgAspProAlaLeuGluArgArgGlyThrLeuAlaGlyAspValPheSerLeuAlaIleIleMetGlnGluValValCysArgSerAlaProTyrAlaMetLeuGluLeuThrProGluGluValValGlnArgValArgSerProProProLeuCysArgProLeuValSerMetAspGlnAlaProValGluCysIleLeuLeuMetLysGlnCysTrpAlaGluGlnProGluLeuArgProSerMetAspHisThrPheAspLeuPheLysAsnIleAsnLysGlyArgLysThrAsnIleIleAspSerMetLeuArgMetLeuGluGlnTyrSerSerAsnLeuGluAspLeuIleArgGluArgThrGluGluLeuGluLeuGluLysGlnLysThrAspArgLeuLeuThrGlnMetLeuProProSerValAlaGluAlaLeuLysThrGlyThrProValGluProGluTyrPheGluGlnValThrLeuTyrPheSerAspIleValGlyPheThrThrIleSerAlaMetSerGluProIleGluValValAspLeuLeuAsnAspLeuTyrThrLeuPheAspAlaIleIleGlySerHisAspValTyrLysValGluThrIleGlyAspAlaTyrMetValAlaSerGlyLeuProGlnArgAsnGlyGlnArgHisAlaAlaGluIleAlaAsnMetSerLeuAspIleLeuSerAlaValGlyThrPheArgMetArgHisMetProGluValProValArgIleArgIleGlyLeuHisSerGlyProCysValAlaGlyValValGlyLeuThrMetProArgTyrCysLeuPheGlyAspThrValAsnThrAlaSerArgMetGluSerThrGlyLeuProTyrArgIleHisValAsnLeuSerThrValGlyIleLeuArgAlaLeuAspSerGlyTyrGlnValGluLeuArgGlyArgThrGluLeuLysGlyLysGlyAlaGluAspThrPheTrpLeuValGlyArgArgGlyPheAsnLysProIleProLysProProAspLeuGlnProGlySerSerAsnHisGlyIleSerLeuGlnGluIleProProGluArgArgArgLysLeuGluLysAlaArgProGlyGlnPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090949"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915965311",
      "coordinates": [
        {
          "allele": "T",
          "end": 1762,
          "referenceAllele": "C",
          "start": 1761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004689",
      "geneNCBI_id": 3000,
      "geneSymbol": "GUCY2D",
      "hgvs": [
        "NM_000180.4:c.1633C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000171.1:p.Gln545Ter",
        "hgvsWellDefined": "NP_000171.1:p.Gln545_Ser1103delinsHisLeuAspSerProAsnIleGlyValTyrGluGlyAspArgValTrpLeuLysLysPheProGlyAspGlnHisIleAlaIleArgProAlaThrLysThrAlaPheSerLysLeuGlnGluLeuArgHisGluAsnValAlaLeuTyrLeuGlyLeuPheLeuAlaArgGlyAlaGluGlyProAlaAlaLeuTrpGluGlyAsnLeuAlaValValSerGluHisCysThrArgGlySerLeuGlnAspLeuLeuAlaGlnArgGluIleLysLeuAspTrpMetPheLysSerSerLeuLeuLeuAspLeuIleLysGlyIleArgTyrLeuHisHisArgGlyValAlaHisGlyArgLeuLysSerArgAsnCysIleValAspGlyArgPheValLeuLysIleThrAspHisGlyHisGlyArgLeuLeuGluAlaGlnLysValLeuProGluProProArgAlaGluAspGlnLeuTrpThrAlaProGluLeuLeuArgAspProAlaLeuGluArgArgGlyThrLeuAlaGlyAspValPheSerLeuAlaIleIleMetGlnGluValValCysArgSerAlaProTyrAlaMetLeuGluLeuThrProGluGluValValGlnArgValArgSerProProProLeuCysArgProLeuValSerMetAspGlnAlaProValGluCysIleLeuLeuMetLysGlnCysTrpAlaGluGlnProGluLeuArgProSerMetAspHisThrPheAspLeuPheLysAsnIleAsnLysGlyArgLysThrAsnIleIleAspSerMetLeuArgMetLeuGluGlnTyrSerSerAsnLeuGluAspLeuIleArgGluArgThrGluGluLeuGluLeuGluLysGlnLysThrAspArgLeuLeuThrGlnMetLeuProProSerValAlaGluAlaLeuLysThrGlyThrProValGluProGluTyrPheGluGlnValThrLeuTyrPheSerAspIleValGlyPheThrThrIleSerAlaMetSerGluProIleGluValValAspLeuLeuAsnAspLeuTyrThrLeuPheAspAlaIleIleGlySerHisAspValTyrLysValGluThrIleGlyAspAlaTyrMetValAlaSerGlyLeuProGlnArgAsnGlyGlnArgHisAlaAlaGluIleAlaAsnMetSerLeuAspIleLeuSerAlaValGlyThrPheArgMetArgHisMetProGluValProValArgIleArgIleGlyLeuHisSerGlyProCysValAlaGlyValValGlyLeuThrMetProArgTyrCysLeuPheGlyAspThrValAsnThrAlaSerArgMetGluSerThrGlyLeuProTyrArgIleHisValAsnLeuSerThrValGlyIleLeuArgAlaLeuAspSerGlyTyrGlnValGluLeuArgGlyArgThrGluLeuLysGlyLysGlyAlaGluAspThrPheTrpLeuValGlyArgArgGlyPheAsnLysProIleProLysProProAspLeuGlnProGlySerSerAsnHisGlyIleSerLeuGlnGluIleProProGluArgArgArgLysLeuGluLysAlaArgProGlyGlnPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674739",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000254854.5:c.1633C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000180.4:c.1633C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000254854.4:p.Gln545Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000171.1:p.Gln545Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}