{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA72699473",
  "communityStandardTitle": [
    "NM_006371.5(CRTAP):c.198C>A (p.Tyr66Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=631183[alleleid]",
        "alleleId": 631183,
        "preferredName": "NM_006371.5(CRTAP):c.198C>A (p.Tyr66Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/658698",
        "RCV": [
          "RCV000815568",
          "RCV003155319"
        ],
        "variationId": 658698
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.33155767C>A?assembly=hg19",
        "id": "chr3:g.33155767C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.33114275C>A?assembly=hg38",
        "id": "chr3:g.33114275C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/137853939",
        "rs": 137853939
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-33155767-C-A?dataset=gnomad_r2_1",
        "id": "3-33155767-C-A",
        "variant": "3:33155767 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-33114275-C-A?dataset=gnomad_r4",
        "id": "3-33114275-C-A",
        "variant": "3:33114275 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 33114275,
          "referenceAllele": "C",
          "start": 33114274
        }
      ],
      "hgvs": [
        "NC_000003.12:g.33114275C>A",
        "CM000665.2:g.33114275C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 33155767,
          "referenceAllele": "C",
          "start": 33155766
        }
      ],
      "hgvs": [
        "NC_000003.11:g.33155767C>A",
        "CM000665.1:g.33155767C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 33130771,
          "referenceAllele": "C",
          "start": 33130770
        }
      ],
      "hgvs": [
        "NC_000003.10:g.33130771C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5318,
          "referenceAllele": "C",
          "start": 5317
        }
      ],
      "hgvs": [
        "NG_008122.1:g.5318C>A",
        "LRG_4:g.5318C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000867"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 262,
          "referenceAllele": "C",
          "start": 261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002379",
      "geneNCBI_id": 10491,
      "geneSymbol": "CRTAP",
      "hgvs": [
        "ENST00000320954.11:c.198C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323696.5:p.Tyr66Ter",
        "hgvsWellDefined": "ENSP00000323696.5:p.Tyr66_Ser401delinsLeuGluIleSerLeuArgLeuHisArgLeuLeuArgAspSerGluAlaPheCysHisArgAsnCysSerAlaAlaProGlnProGluProAlaAlaGlyLeuAlaSerTyrProGluLeuArgLeuPheGlyGlyLeuLeuArgArgAlaHisCysLeuLysArgCysLysGlnGlyLeuProAlaPheArgGlnSerGlnProSerArgGluValLeuAlaAspPheGlnArgArgGluProTyrLysPheLeuGlnPheAlaTyrPheLysAlaAsnAsnLeuProLysAlaIleAlaAlaAlaHisThrPheLeuLeuLysHisProAspAspGluMetMetLysArgAsnMetAlaTyrTyrLysSerLeuProGlyAlaGluAspTyrIleLysAspLeuGluThrLysSerTyrGluSerLeuPheIleArgAlaValArgAlaTyrAsnGlyGluAsnTrpArgThrSerIleThrAspMetGluLeuAlaLeuProAspPhePheLysAlaPheTyrGluCysLeuAlaAlaCysGluGlySerArgGluIleLysAspPheLysAspPheTyrLeuSerIleAlaAspHisTyrValGluValLeuGluCysLysIleGlnCysGluGluAsnLeuThrProValIleGlyGlyTyrProValGluLysPheValAlaThrMetTyrHisTyrLeuGlnPheAlaTyrTyrLysLeuAsnAspLeuLysAsnAlaAlaProCysAlaValSerTyrLeuLeuPheAspGlnAsnAspLysValMetGlnGlnAsnLeuValTyrTyrGlnTyrHisArgAspThrTrpGlyLeuSerAspGluHisPheGlnProArgProGluAlaValGlnPhePheAsnValThrThrLeuGlnLysGluLeuTyrAspPheAlaLysGluAsnIleMetAspAspAspGluGlyGluValValGluTyrValAspAspLeuLeuGluLeuGluGluThrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746389",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000320954.11:c.198C>A"
          },
          "RefSeq": {
            "hgvs": "NM_006371.5:c.198C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000323696.5:p.Tyr66Ter"
          },
          "RefSeq": {
            "hgvs": "NP_006362.1:p.Tyr66Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 297,
          "referenceAllele": "C",
          "start": 296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002379",
      "geneNCBI_id": 10491,
      "geneSymbol": "CRTAP",
      "hgvs": [
        "ENST00000320954.10:c.198C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323696.5:p.Tyr66Ter",
        "hgvsWellDefined": "ENSP00000323696.5:p.Tyr66_Ser401delinsLeuGluIleSerLeuArgLeuHisArgLeuLeuArgAspSerGluAlaPheCysHisArgAsnCysSerAlaAlaProGlnProGluProAlaAlaGlyLeuAlaSerTyrProGluLeuArgLeuPheGlyGlyLeuLeuArgArgAlaHisCysLeuLysArgCysLysGlnGlyLeuProAlaPheArgGlnSerGlnProSerArgGluValLeuAlaAspPheGlnArgArgGluProTyrLysPheLeuGlnPheAlaTyrPheLysAlaAsnAsnLeuProLysAlaIleAlaAlaAlaHisThrPheLeuLeuLysHisProAspAspGluMetMetLysArgAsnMetAlaTyrTyrLysSerLeuProGlyAlaGluAspTyrIleLysAspLeuGluThrLysSerTyrGluSerLeuPheIleArgAlaValArgAlaTyrAsnGlyGluAsnTrpArgThrSerIleThrAspMetGluLeuAlaLeuProAspPhePheLysAlaPheTyrGluCysLeuAlaAlaCysGluGlySerArgGluIleLysAspPheLysAspPheTyrLeuSerIleAlaAspHisTyrValGluValLeuGluCysLysIleGlnCysGluGluAsnLeuThrProValIleGlyGlyTyrProValGluLysPheValAlaThrMetTyrHisTyrLeuGlnPheAlaTyrTyrLysLeuAsnAspLeuLysAsnAlaAlaProCysAlaValSerTyrLeuLeuPheAspGlnAsnAspLysValMetGlnGlnAsnLeuValTyrTyrGlnTyrHisArgAspThrTrpGlyLeuSerAspGluHisPheGlnProArgProGluAlaValGlnPhePheAsnValThrThrLeuGlnLysGluLeuTyrAspPheAlaLysGluAsnIleMetAspAspAspGluGlyGluValValGluTyrValAspAspLeuLeuGluLeuGluGluThrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257881"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 222,
          "referenceAllele": "C",
          "start": 221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002379",
      "geneNCBI_id": 10491,
      "geneSymbol": "CRTAP",
      "hgvs": [
        "ENST00000449224.1:c.198C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000409997.1:p.Tyr66Ter",
        "hgvsWellDefined": "ENSP00000409997.1:p.Tyr66_Ser358delinsLeuGluIleSerLeuArgLeuHisArgLeuLeuArgAspSerGluAlaPheCysHisArgAsnCysSerAlaAlaProGlnProGluProAlaAlaGlyLeuAlaSerTyrProGluLeuArgLeuPheGlyGlyLeuLeuArgArgAlaHisCysLeuLysArgCysLysGlnGlyLeuProAlaPheArgGlnSerGlnProSerArgGluValLeuAlaAspPheGlnArgArgGluProTyrLysPheLeuGlnPheAlaTyrPheLysAlaAsnAsnLeuProLysAlaIleAlaAlaAlaHisThrPheLeuLeuLysHisProAspAspGluMetMetLysArgAsnMetAlaTyrTyrLysSerLeuProGlyAlaGluAspTyrIleLysAspLeuGluThrLysSerTyrGluSerLeuPheIleArgAlaValArgAlaTyrAsnGlyGluAsnTrpArgThrSerIleThrAspMetGluLeuAlaLeuProAspPhePheLysAlaPheTyrGluCysLeuAlaAlaCysGluGlySerArgGluIleLysAspPheLysAspPheTyrLeuSerIleAlaValAsnAspLeuLysAsnAlaAlaProCysAlaValSerTyrLeuLeuPheAspGlnAsnAspLysValMetGlnGlnAsnLeuValTyrTyrGlnTyrHisArgAspThrTrpGlyLeuSerAspGluHisPheGlnProArgProGluAlaValGlnPhePheAsnValThrThrLeuGlnLysGluLeuTyrAspPheAlaLysGluAsnIleMetAspAspAspGluGlyGluValValGluTyrValAspAspLeuLeuGluLeuGluGluThrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300106"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915975173",
      "coordinates": [
        {
          "allele": "A",
          "end": 318,
          "referenceAllele": "C",
          "start": 317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002379",
      "geneNCBI_id": 10491,
      "geneSymbol": "CRTAP",
      "hgvs": [
        "NM_006371.4:c.198C>A",
        "LRG_4t1:c.198C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_006362.1:p.Tyr66Ter",
        "hgvsWellDefined": "NP_006362.1:p.Tyr66_Ser401delinsLeuGluIleSerLeuArgLeuHisArgLeuLeuArgAspSerGluAlaPheCysHisArgAsnCysSerAlaAlaProGlnProGluProAlaAlaGlyLeuAlaSerTyrProGluLeuArgLeuPheGlyGlyLeuLeuArgArgAlaHisCysLeuLysArgCysLysGlnGlyLeuProAlaPheArgGlnSerGlnProSerArgGluValLeuAlaAspPheGlnArgArgGluProTyrLysPheLeuGlnPheAlaTyrPheLysAlaAsnAsnLeuProLysAlaIleAlaAlaAlaHisThrPheLeuLeuLysHisProAspAspGluMetMetLysArgAsnMetAlaTyrTyrLysSerLeuProGlyAlaGluAspTyrIleLysAspLeuGluThrLysSerTyrGluSerLeuPheIleArgAlaValArgAlaTyrAsnGlyGluAsnTrpArgThrSerIleThrAspMetGluLeuAlaLeuProAspPhePheLysAlaPheTyrGluCysLeuAlaAlaCysGluGlySerArgGluIleLysAspPheLysAspPheTyrLeuSerIleAlaAspHisTyrValGluValLeuGluCysLysIleGlnCysGluGluAsnLeuThrProValIleGlyGlyTyrProValGluLysPheValAlaThrMetTyrHisTyrLeuGlnPheAlaTyrTyrLysLeuAsnAspLeuLysAsnAlaAlaProCysAlaValSerTyrLeuLeuPheAspGlnAsnAspLysValMetGlnGlnAsnLeuValTyrTyrGlnTyrHisArgAspThrTrpGlyLeuSerAspGluHisPheGlnProArgProGluAlaValGlnPhePheAsnValThrThrLeuGlnLysGluLeuTyrAspPheAlaLysGluAsnIleMetAspAspAspGluGlyGluValValGluTyrValAspAspLeuLeuGluLeuGluGluThrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031389"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915975173",
      "coordinates": [
        {
          "allele": "A",
          "end": 262,
          "referenceAllele": "C",
          "start": 261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002379",
      "geneNCBI_id": 10491,
      "geneSymbol": "CRTAP",
      "hgvs": [
        "NM_006371.5:c.198C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_006362.1:p.Tyr66Ter",
        "hgvsWellDefined": "NP_006362.1:p.Tyr66_Ser401delinsLeuGluIleSerLeuArgLeuHisArgLeuLeuArgAspSerGluAlaPheCysHisArgAsnCysSerAlaAlaProGlnProGluProAlaAlaGlyLeuAlaSerTyrProGluLeuArgLeuPheGlyGlyLeuLeuArgArgAlaHisCysLeuLysArgCysLysGlnGlyLeuProAlaPheArgGlnSerGlnProSerArgGluValLeuAlaAspPheGlnArgArgGluProTyrLysPheLeuGlnPheAlaTyrPheLysAlaAsnAsnLeuProLysAlaIleAlaAlaAlaHisThrPheLeuLeuLysHisProAspAspGluMetMetLysArgAsnMetAlaTyrTyrLysSerLeuProGlyAlaGluAspTyrIleLysAspLeuGluThrLysSerTyrGluSerLeuPheIleArgAlaValArgAlaTyrAsnGlyGluAsnTrpArgThrSerIleThrAspMetGluLeuAlaLeuProAspPhePheLysAlaPheTyrGluCysLeuAlaAlaCysGluGlySerArgGluIleLysAspPheLysAspPheTyrLeuSerIleAlaAspHisTyrValGluValLeuGluCysLysIleGlnCysGluGluAsnLeuThrProValIleGlyGlyTyrProValGluLysPheValAlaThrMetTyrHisTyrLeuGlnPheAlaTyrTyrLysLeuAsnAspLeuLysAsnAlaAlaProCysAlaValSerTyrLeuLeuPheAspGlnAsnAspLysValMetGlnGlnAsnLeuValTyrTyrGlnTyrHisArgAspThrTrpGlyLeuSerAspGluHisPheGlnProArgProGluAlaValGlnPhePheAsnValThrThrLeuGlnLysGluLeuTyrAspPheAlaLysGluAsnIleMetAspAspAspGluGlyGluValValGluTyrValAspAspLeuLeuGluLeuGluGluThrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696688",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000320954.11:c.198C>A"
          },
          "RefSeq": {
            "hgvs": "NM_006371.5:c.198C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000323696.5:p.Tyr66Ter"
          },
          "RefSeq": {
            "hgvs": "NP_006362.1:p.Tyr66Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829197111",
      "coordinates": [
        {
          "allele": "A",
          "end": 262,
          "referenceAllele": "C",
          "start": 261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002379",
      "geneNCBI_id": 10491,
      "geneSymbol": "CRTAP",
      "hgvs": [
        "NM_001393363.1:c.198C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001380292.1:p.Tyr66Ter",
        "hgvsWellDefined": "NP_001380292.1:p.Tyr66_Ser373delinsLeuGluIleSerLeuArgLeuHisArgLeuLeuArgAspSerGluAlaPheCysHisArgAsnCysSerAlaAlaProGlnProGluProAlaAlaGlyLeuAlaSerTyrProGluLeuArgLeuPheGlyGlyLeuLeuArgArgAlaHisCysLeuLysArgCysLysGlnGlyLeuProAlaPheArgGlnSerGlnProSerArgGluValLeuAlaAspPheGlnArgArgGluProTyrLysPheLeuGlnPheAlaTyrPheLysAlaAsnAsnLeuProLysAlaIleAlaAlaAlaHisThrPheLeuLeuLysHisProAspAspGluMetMetLysArgAsnMetAlaTyrTyrLysSerLeuProGlyAlaGluAspTyrIleLysAspLeuGluThrLysSerTyrGluSerLeuPheIleArgAlaValArgAlaTyrAsnGlyGluAsnTrpArgThrSerIleThrAspMetGluLeuAlaLeuProAspPhePheLysAlaPheTyrGluCysLeuAlaAlaCysGluGlySerArgGluIleLysAspPheLysAspPheTyrLeuSerIleAlaAspHisTyrValGluValLeuGluCysLysIleGlnCysGluGluAsnLeuThrProValIleGlyGlyTyrProValGluLysPheValAlaThrMetTyrHisTyrLeuGlnPheAlaTyrTyrLysLeuAsnAspLeuLysAsnAlaAlaProCysAlaValSerTyrLeuLeuPheAspGlnAsnAspLysValMetGlnGlnAsnLeuValTyrTyrGlnTyrHisArgAspThrTrpGlyLeuSerAspGluHisPheGlnProArgProGlyGluValValGluTyrValAspAspLeuLeuGluLeuGluGluThrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS726528"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829197369",
      "coordinates": [
        {
          "allele": "A",
          "end": 262,
          "referenceAllele": "C",
          "start": 261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002379",
      "geneNCBI_id": 10491,
      "geneSymbol": "CRTAP",
      "hgvs": [
        "NM_001393364.1:c.198C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001380293.1:p.Tyr66Ter",
        "hgvsWellDefined": "NP_001380293.1:p.Tyr66_Ser358delinsLeuGluIleSerLeuArgLeuHisArgLeuLeuArgAspSerGluAlaPheCysHisArgAsnCysSerAlaAlaProGlnProGluProAlaAlaGlyLeuAlaSerTyrProGluLeuArgLeuPheGlyGlyLeuLeuArgArgAlaHisCysLeuLysArgCysLysGlnGlyLeuProAlaPheArgGlnSerGlnProSerArgGluValLeuAlaAspPheGlnArgArgGluProTyrLysPheLeuGlnPheAlaTyrPheLysAlaAsnAsnLeuProLysAlaIleAlaAlaAlaHisThrPheLeuLeuLysHisProAspAspGluMetMetLysArgAsnMetAlaTyrTyrLysSerLeuProGlyAlaGluAspTyrIleLysAspLeuGluThrLysSerTyrGluSerLeuPheIleArgAlaValArgAlaTyrAsnGlyGluAsnTrpArgThrSerIleThrAspMetGluLeuAlaLeuProAspPhePheLysAlaPheTyrGluCysLeuAlaAlaCysGluGlySerArgGluIleLysAspPheLysAspPheTyrLeuSerIleAlaValAsnAspLeuLysAsnAlaAlaProCysAlaValSerTyrLeuLeuPheAspGlnAsnAspLysValMetGlnGlnAsnLeuValTyrTyrGlnTyrHisArgAspThrTrpGlyLeuSerAspGluHisPheGlnProArgProGluAlaValGlnPhePheAsnValThrThrLeuGlnLysGluLeuTyrAspPheAlaLysGluAsnIleMetAspAspAspGluGlyGluValValGluTyrValAspAspLeuLeuGluLeuGluGluThrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS726529"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829197618",
      "coordinates": [
        {
          "allele": "A",
          "end": 262,
          "referenceAllele": "C",
          "start": 261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002379",
      "geneNCBI_id": 10491,
      "geneSymbol": "CRTAP",
      "hgvs": [
        "NM_001393365.1:c.198C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001380294.1:p.Tyr66Ter",
        "hgvsWellDefined": "NP_001380294.1:p.Tyr66_Ser351delinsLeuGluIleSerLeuArgLeuHisArgLeuLeuArgAspSerGluAlaPheCysHisArgAsnCysSerAlaAlaProGlnProGluProAlaAlaGlyLeuAlaSerTyrProGluLeuArgLeuPheGlyGlyLeuLeuArgArgAlaHisCysLeuLysArgCysLysGlnGlyLeuProAlaPheArgGlnSerGlnProSerArgGluValLeuAlaAspPheGlnArgArgGluProTyrLysPheLeuGlnPheAlaTyrPheLysSerLeuPheIleArgAlaValArgAlaTyrAsnGlyGluAsnTrpArgThrSerIleThrAspMetGluLeuAlaLeuProAspPhePheLysAlaPheTyrGluCysLeuAlaAlaCysGluGlySerArgGluIleLysAspPheLysAspPheTyrLeuSerIleAlaAspHisTyrValGluValLeuGluCysLysIleGlnCysGluGluAsnLeuThrProValIleGlyGlyTyrProValGluLysPheValAlaThrMetTyrHisTyrLeuGlnPheAlaTyrTyrLysLeuAsnAspLeuLysAsnAlaAlaProCysAlaValSerTyrLeuLeuPheAspGlnAsnAspLysValMetGlnGlnAsnLeuValTyrTyrGlnTyrHisArgAspThrTrpGlyLeuSerAspGluHisPheGlnProArgProGluAlaValGlnPhePheAsnValThrThrLeuGlnLysGluLeuTyrAspPheAlaLysGluAsnIleMetAspAspAspGluGlyGluValValGluTyrValAspAspLeuLeuGluLeuGluGluThrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS726530"
    }
  ],
  "type": "nucleotide"
}