{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA145927295",
  "communityStandardTitle": [
    "NM_001010892.3(RSPH4A):c.1453C>T (p.Arg485Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1072432",
        "active": true,
        "id": "COSM1072432"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=455810[alleleid]",
        "alleleId": 455810,
        "preferredName": "NM_001010892.3(RSPH4A):c.1453C>T (p.Arg485Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/454521",
        "RCV": [
          "RCV000554729",
          "RCV002470901"
        ],
        "variationId": 454521
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.116949323C>T?assembly=hg19",
        "id": "chr6:g.116949323C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.116628160C>T?assembly=hg38",
        "id": "chr6:g.116628160C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1034327724",
        "rs": 1034327724
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-116949323-C-T?dataset=gnomad_r2_1",
        "id": "6-116949323-C-T",
        "variant": "6:116949323 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-116628160-C-T?dataset=gnomad_r3",
        "id": "6-116628160-C-T",
        "variant": "6:116628160 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-116628160-C-T?dataset=gnomad_r4",
        "id": "6-116628160-C-T",
        "variant": "6:116628160 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 116628160,
          "referenceAllele": "C",
          "start": 116628159
        }
      ],
      "hgvs": [
        "NC_000006.12:g.116628160C>T",
        "CM000668.2:g.116628160C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 116949323,
          "referenceAllele": "C",
          "start": 116949322
        }
      ],
      "hgvs": [
        "NC_000006.11:g.116949323C>T",
        "CM000668.1:g.116949323C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 117056016,
          "referenceAllele": "C",
          "start": 117056015
        }
      ],
      "hgvs": [
        "NC_000006.10:g.117056016C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 16682,
          "referenceAllele": "C",
          "start": 16681
        }
      ],
      "hgvs": [
        "NG_012934.1:g.16682C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002631"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1598,
          "referenceAllele": "C",
          "start": 1597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021558",
      "geneNCBI_id": 345895,
      "geneSymbol": "RSPH4A",
      "hgvs": [
        "ENST00000229554.10:c.1453C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000229554.5:p.Arg485Ter",
        "hgvsWellDefined": "ENSP00000229554.5:p.Arg485_Asp716delinsAlaGlnIleAlaArgIleSerAlaGlyThrHisValSerProLeuGlyPheTyrGlnPheGlyGluGluGluGlyGluGluGluGluGluAlaGluGlyGlyArgAsnSerPheGluGluAsnProAspPheGluGlyIleGlnValIleAspLeuValGluSerLeuSerAsnTrpValHisHisValGlnHisIleLeuSerGlnGlyArgCysAsnTrpPheAsnSerIleGlnLysAsnGluGluGluGluGluGluGluAspGluGluLysAspAspSerAspTyrIleGluGlnGluValGlyLeuProLeuLeuThrProIleSerGluAspLeuGluIleGlnAsnIleProProTrpThrThrArgLeuSerSerAsnLeuIleProGlnTyrAlaIleAlaValLeuGlnSerAsnLeuTrpProGlyAlaTyrAlaPheSerAsnGlyLysLysPheGluAsnPheTyrIleGlyTrpGlyHisLysTyrSerProAspAsnTyrThrProProValProProProValTyrGlnGluTyrProSerGlyProGluIleThrGluMetAspAspProSerValGluGluGluGlnAlaPheArgAlaAlaGlnGluAlaValLeuLeuAlaAlaGluAsnGluGluSerGluGluAspGluAspGluGluAspAspTyrAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740800",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000229554.10:c.1453C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001010892.3:c.1453C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000229554.5:p.Arg485Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001010892.1:p.Arg485Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1590,
          "referenceAllele": "C",
          "start": 1589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021558",
      "geneNCBI_id": 345895,
      "geneSymbol": "RSPH4A",
      "hgvs": [
        "ENST00000229554.9:c.1453C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000229554.5:p.Arg485Ter",
        "hgvsWellDefined": "ENSP00000229554.5:p.Arg485_Asp716delinsAlaGlnIleAlaArgIleSerAlaGlyThrHisValSerProLeuGlyPheTyrGlnPheGlyGluGluGluGlyGluGluGluGluGluAlaGluGlyGlyArgAsnSerPheGluGluAsnProAspPheGluGlyIleGlnValIleAspLeuValGluSerLeuSerAsnTrpValHisHisValGlnHisIleLeuSerGlnGlyArgCysAsnTrpPheAsnSerIleGlnLysAsnGluGluGluGluGluGluGluAspGluGluLysAspAspSerAspTyrIleGluGlnGluValGlyLeuProLeuLeuThrProIleSerGluAspLeuGluIleGlnAsnIleProProTrpThrThrArgLeuSerSerAsnLeuIleProGlnTyrAlaIleAlaValLeuGlnSerAsnLeuTrpProGlyAlaTyrAlaPheSerAsnGlyLysLysPheGluAsnPheTyrIleGlyTrpGlyHisLysTyrSerProAspAsnTyrThrProProValProProProValTyrGlnGluTyrProSerGlyProGluIleThrGluMetAspAspProSerValGluGluGluGlnAlaPheArgAlaAlaGlnGluAlaValLeuLeuAlaAlaGluAsnGluGluSerGluGluAspGluAspGluGluAspAspTyrAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248700"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 921,
          "endIntronDirection": "-",
          "endIntronOffset": 1406,
          "referenceAllele": "C",
          "start": 921,
          "startIntronDirection": "-",
          "startIntronOffset": 1407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021558",
      "geneNCBI_id": 345895,
      "geneSymbol": "RSPH4A",
      "hgvs": [
        "ENST00000368580.4:c.922-1407C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357569.4:n.922-1407C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267043"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1598,
          "referenceAllele": "C",
          "start": 1597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021558",
      "geneNCBI_id": 345895,
      "geneSymbol": "RSPH4A",
      "hgvs": [
        "ENST00000368581.8:c.1453C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357570.4:p.Arg485Ter",
        "hgvsWellDefined": "ENSP00000357570.4:p.Arg485_Thr600delinsAlaGlnIleAlaArgIleSerAlaGlyThrHisValSerProLeuGlyPheTyrGlnPheGlyGluGluGluGlyGluGluGluGluGluAlaGluGlyGlyArgAsnSerPheGluGluAsnProAspPheGluGlyIleGlnValIleAspLeuValGluSerLeuSerAsnTrpValHisHisValGlnHisIleLeuSerGlnArgPheArgIleTyrProProGlyGlnHisGlyTyrProGlnIleSerPheHisAsnMetLeuLeuGlnSerPheAsnProThrPheGlyLeuGluHisMetProSerProMetAlaLysSerLeuLysIleSerThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267044"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658661287",
      "coordinates": [
        {
          "allele": "T",
          "end": 1598,
          "referenceAllele": "C",
          "start": 1597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021558",
      "geneNCBI_id": 345895,
      "geneSymbol": "RSPH4A",
      "hgvs": [
        "NM_001010892.2:c.1453C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001010892.1:p.Arg485Ter",
        "hgvsWellDefined": "NP_001010892.1:p.Arg485_Asp716delinsAlaGlnIleAlaArgIleSerAlaGlyThrHisValSerProLeuGlyPheTyrGlnPheGlyGluGluGluGlyGluGluGluGluGluAlaGluGlyGlyArgAsnSerPheGluGluAsnProAspPheGluGlyIleGlnValIleAspLeuValGluSerLeuSerAsnTrpValHisHisValGlnHisIleLeuSerGlnGlyArgCysAsnTrpPheAsnSerIleGlnLysAsnGluGluGluGluGluGluGluAspGluGluLysAspAspSerAspTyrIleGluGlnGluValGlyLeuProLeuLeuThrProIleSerGluAspLeuGluIleGlnAsnIleProProTrpThrThrArgLeuSerSerAsnLeuIleProGlnTyrAlaIleAlaValLeuGlnSerAsnLeuTrpProGlyAlaTyrAlaPheSerAsnGlyLysLysPheGluAsnPheTyrIleGlyTrpGlyHisLysTyrSerProAspAsnTyrThrProProValProProProValTyrGlnGluTyrProSerGlyProGluIleThrGluMetAspAspProSerValGluGluGluGlnAlaPheArgAlaAlaGlnGluAlaValLeuLeuAlaAlaGluAsnGluGluSerGluGluAspGluAspGluGluAspAspTyrAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008174"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915986507",
      "coordinates": [
        {
          "allele": "T",
          "end": 1598,
          "referenceAllele": "C",
          "start": 1597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021558",
      "geneNCBI_id": 345895,
      "geneSymbol": "RSPH4A",
      "hgvs": [
        "NM_001161664.1:c.1453C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001155136.1:p.Arg485Ter",
        "hgvsWellDefined": "NP_001155136.1:p.Arg485_Thr600delinsAlaGlnIleAlaArgIleSerAlaGlyThrHisValSerProLeuGlyPheTyrGlnPheGlyGluGluGluGlyGluGluGluGluGluAlaGluGlyGlyArgAsnSerPheGluGluAsnProAspPheGluGlyIleGlnValIleAspLeuValGluSerLeuSerAsnTrpValHisHisValGlnHisIleLeuSerGlnArgPheArgIleTyrProProGlyGlnHisGlyTyrProGlnIleSerPheHisAsnMetLeuLeuGlnSerPheAsnProThrPheGlyLeuGluHisMetProSerProMetAlaLysSerLeuLysIleSerThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014289"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4104,
          "referenceAllele": "C",
          "start": 4103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021558",
      "geneNCBI_id": 345895,
      "geneSymbol": "RSPH4A",
      "hgvs": [
        "XM_006715469.2:c.1453C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715532.1:p.Arg485Ter",
        "hgvsWellDefined": "XP_006715532.1:p.Arg485_Thr632delinsAlaGlnIleAlaArgIleSerAlaGlyThrHisValSerProLeuGlyPheTyrGlnPheGlyGluGluGluGlyGluGluGluGluGluAlaGluGlyGlyArgAsnSerPheGluGluAsnProAspPheGluGlyIleGlnValIleAspLeuValGluSerLeuSerAsnTrpValHisHisValGlnHisIleLeuSerGlnGlyArgCysAsnTrpPheAsnSerIleGlnLysAsnGluGluGluGluGluGluGluAspGluGluLysAspAspSerAspTyrIleGluGlnGluArgPheArgIleTyrProProGlyGlnHisGlyTyrProGlnIleSerPheHisAsnMetLeuLeuGlnSerPheAsnProThrPheGlyLeuGluHisMetProSerProMetAlaLysSerLeuLysIleSerThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071176"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4104,
          "referenceAllele": "C",
          "start": 4103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021558",
      "geneNCBI_id": 345895,
      "geneSymbol": "RSPH4A",
      "hgvs": [
        "XM_011535791.1:c.1453C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534093.1:p.Arg485Ter",
        "hgvsWellDefined": "XP_011534093.1:p.Arg485_Asp716delinsAlaGlnIleAlaArgIleSerAlaGlyThrHisValSerProLeuGlyPheTyrGlnPheGlyGluGluGluGlyGluGluGluGluGluAlaGluGlyGlyArgAsnSerPheGluGluAsnProAspPheGluGlyIleGlnValIleAspLeuValGluSerLeuSerAsnTrpValHisHisValGlnHisIleLeuSerGlnGlyArgCysAsnTrpPheAsnSerIleGlnLysAsnGluGluGluGluGluGluGluAspGluGluLysAspAspSerAspTyrIleGluGlnGluValGlyLeuProLeuLeuThrProIleSerGluAspLeuGluIleGlnAsnIleProProTrpThrThrArgLeuSerSerAsnLeuIleProGlnTyrAlaIleAlaValLeuGlnSerAsnLeuTrpProGlyAlaTyrAlaPheSerAsnGlyLysLysPheGluAsnPheTyrIleGlyTrpGlyHisLysTyrSerProAspAsnTyrThrProProValProProProValTyrGlnGluTyrProSerGlyProGluIleThrGluMetAspAspProSerValGluGluGluGlnAlaPheArgAlaAlaGlnGluAlaValLeuLeuAlaAlaGluAsnGluGluSerGluGluAspGluAspGluGluAspAspTyrAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102793"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4003,
          "referenceAllele": "C",
          "start": 4002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021558",
      "geneNCBI_id": 345895,
      "geneSymbol": "RSPH4A",
      "hgvs": [
        "XM_011535792.1:c.1453C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534094.1:p.Arg485Ter",
        "hgvsWellDefined": "XP_011534094.1:p.Arg485_Asp716delinsAlaGlnIleAlaArgIleSerAlaGlyThrHisValSerProLeuGlyPheTyrGlnPheGlyGluGluGluGlyGluGluGluGluGluAlaGluGlyGlyArgAsnSerPheGluGluAsnProAspPheGluGlyIleGlnValIleAspLeuValGluSerLeuSerAsnTrpValHisHisValGlnHisIleLeuSerGlnGlyArgCysAsnTrpPheAsnSerIleGlnLysAsnGluGluGluGluGluGluGluAspGluGluLysAspAspSerAspTyrIleGluGlnGluValGlyLeuProLeuLeuThrProIleSerGluAspLeuGluIleGlnAsnIleProProTrpThrThrArgLeuSerSerAsnLeuIleProGlnTyrAlaIleAlaValLeuGlnSerAsnLeuTrpProGlyAlaTyrAlaPheSerAsnGlyLysLysPheGluAsnPheTyrIleGlyTrpGlyHisLysTyrSerProAspAsnTyrThrProProValProProProValTyrGlnGluTyrProSerGlyProGluIleThrGluMetAspAspProSerValGluGluGluGlnAlaPheArgAlaAlaGlnGluAlaValLeuLeuAlaAlaGluAsnGluGluSerGluGluAspGluAspGluGluAspAspTyrAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102794"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4104,
          "referenceAllele": "C",
          "start": 4103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021558",
      "geneNCBI_id": 345895,
      "geneSymbol": "RSPH4A",
      "hgvs": [
        "XR_942416.1:n.4104C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136753"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5165,
          "referenceAllele": "C",
          "start": 5164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021558",
      "geneNCBI_id": 345895,
      "geneSymbol": "RSPH4A",
      "hgvs": [
        "XM_017010826.1:c.1453C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866315.1:p.Arg485Ter",
        "hgvsWellDefined": "XP_016866315.1:p.Arg485_Thr600delinsAlaGlnIleAlaArgIleSerAlaGlyThrHisValSerProLeuGlyPheTyrGlnPheGlyGluGluGluGlyGluGluGluGluGluAlaGluGlyGlyArgAsnSerPheGluGluAsnProAspPheGluGlyIleGlnValIleAspLeuValGluSerLeuSerAsnTrpValHisHisValGlnHisIleLeuSerGlnArgPheArgIleTyrProProGlyGlnHisGlyTyrProGlnIleSerPheHisAsnMetLeuLeuGlnSerPheAsnProThrPheGlyLeuGluHisMetProSerProMetAlaLysSerLeuLysIleSerThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564798"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658661287",
      "coordinates": [
        {
          "allele": "T",
          "end": 1598,
          "referenceAllele": "C",
          "start": 1597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021558",
      "geneNCBI_id": 345895,
      "geneSymbol": "RSPH4A",
      "hgvs": [
        "NM_001010892.3:c.1453C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001010892.1:p.Arg485Ter",
        "hgvsWellDefined": "NP_001010892.1:p.Arg485_Asp716delinsAlaGlnIleAlaArgIleSerAlaGlyThrHisValSerProLeuGlyPheTyrGlnPheGlyGluGluGluGlyGluGluGluGluGluAlaGluGlyGlyArgAsnSerPheGluGluAsnProAspPheGluGlyIleGlnValIleAspLeuValGluSerLeuSerAsnTrpValHisHisValGlnHisIleLeuSerGlnGlyArgCysAsnTrpPheAsnSerIleGlnLysAsnGluGluGluGluGluGluGluAspGluGluLysAspAspSerAspTyrIleGluGlnGluValGlyLeuProLeuLeuThrProIleSerGluAspLeuGluIleGlnAsnIleProProTrpThrThrArgLeuSerSerAsnLeuIleProGlnTyrAlaIleAlaValLeuGlnSerAsnLeuTrpProGlyAlaTyrAlaPheSerAsnGlyLysLysPheGluAsnPheTyrIleGlyTrpGlyHisLysTyrSerProAspAsnTyrThrProProValProProProValTyrGlnGluTyrProSerGlyProGluIleThrGluMetAspAspProSerValGluGluGluGlnAlaPheArgAlaAlaGlnGluAlaValLeuLeuAlaAlaGluAsnGluGluSerGluGluAspGluAspGluGluAspAspTyrAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675377",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000229554.10:c.1453C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001010892.3:c.1453C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000229554.5:p.Arg485Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001010892.1:p.Arg485Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA915986507",
      "coordinates": [
        {
          "allele": "T",
          "end": 1598,
          "referenceAllele": "C",
          "start": 1597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021558",
      "geneNCBI_id": 345895,
      "geneSymbol": "RSPH4A",
      "hgvs": [
        "NM_001161664.2:c.1453C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001155136.1:p.Arg485Ter",
        "hgvsWellDefined": "NP_001155136.1:p.Arg485_Thr600delinsAlaGlnIleAlaArgIleSerAlaGlyThrHisValSerProLeuGlyPheTyrGlnPheGlyGluGluGluGlyGluGluGluGluGluAlaGluGlyGlyArgAsnSerPheGluGluAsnProAspPheGluGlyIleGlnValIleAspLeuValGluSerLeuSerAsnTrpValHisHisValGlnHisIleLeuSerGlnArgPheArgIleTyrProProGlyGlnHisGlyTyrProGlnIleSerPheHisAsnMetLeuLeuGlnSerPheAsnProThrPheGlyLeuGluHisMetProSerProMetAlaLysSerLeuLysIleSerThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713013"
    }
  ],
  "type": "nucleotide"
}