{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA374187268",
  "communityStandardTitle": [
    "NM_000380.4(XPA):c.553C>T (p.Gln185Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=262038[alleleid]",
        "alleleId": 262038,
        "preferredName": "NM_000380.4(XPA):c.553C>T (p.Gln185Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/267185",
        "RCV": [
          "RCV001172311",
          "RCV001386670"
        ],
        "variationId": 267185
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.100449380G>A?assembly=hg19",
        "id": "chr9:g.100449380G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.97687098G>A?assembly=hg38",
        "id": "chr9:g.97687098G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1828741490",
        "rs": 1828741490
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-97687098-G-A?dataset=gnomad_r4",
        "id": "9-97687098-G-A",
        "variant": "9:97687098 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 97687098,
          "referenceAllele": "G",
          "start": 97687097
        }
      ],
      "hgvs": [
        "NC_000009.12:g.97687098G>A",
        "CM000671.2:g.97687098G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 100449380,
          "referenceAllele": "G",
          "start": 100449379
        }
      ],
      "hgvs": [
        "NC_000009.11:g.100449380G>A",
        "CM000671.1:g.100449380G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 99489201,
          "referenceAllele": "G",
          "start": 99489200
        }
      ],
      "hgvs": [
        "NC_000009.10:g.99489201G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 15312,
          "referenceAllele": "C",
          "start": 15311
        }
      ],
      "hgvs": [
        "NG_011642.1:g.15312C>T",
        "LRG_471:g.15312C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001876"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 601,
          "referenceAllele": "C",
          "start": 600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012814",
      "geneNCBI_id": 7507,
      "geneSymbol": "XPA",
      "hgvs": [
        "ENST00000375128.5:c.553C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364270.5:p.Gln185Ter",
        "hgvsWellDefined": "ENSP00000364270.5:p.Gln185_Met273delinsIleValLysArgSerLeuGluValTrpGlySerGlnGluAlaLeuGluGluAlaLysGluValArgGlnGluAsnArgGluLysMetLysGlnLysLysPheAspLysLysValLysGluLeuArgArgAlaValArgSerSerValTrpLysArgGluThrIleValHisGlnHisGluTyrGlyProGluGluAsnLeuGluAspAspMetTyrArgLysThrCysThrMetCysGlyHisGluLeuThrTyrGluLysMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751563",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375128.5:c.553C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000380.4:c.553C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364270.5:p.Gln185Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000371.1:p.Gln185Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 618,
          "referenceAllele": "C",
          "start": 617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012814",
      "geneNCBI_id": 7507,
      "geneSymbol": "XPA",
      "hgvs": [
        "ENST00000375128.4:c.553C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364270.4:p.Gln185Ter",
        "hgvsWellDefined": "ENSP00000364270.4:p.Gln185_Met273delinsIleValLysArgSerLeuGluValTrpGlySerGlnGluAlaLeuGluGluAlaLysGluValArgGlnGluAsnArgGluLysMetLysGlnLysLysPheAspLysLysValLysGluLeuArgArgAlaValArgSerSerValTrpLysArgGluThrIleValHisGlnHisGluTyrGlyProGluGluAsnLeuGluAspAspMetTyrArgLysThrCysThrMetCysGlyHisGluLeuThrTyrGluLysMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270577"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 554,
          "referenceAllele": "C",
          "start": 553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012814",
      "geneNCBI_id": 7507,
      "geneSymbol": "XPA",
      "hgvs": [
        "ENST00000462523.5:c.553C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433006.1:p.Gln185Ter",
        "hgvsWellDefined": "ENSP00000433006.1:p.Gln185_Glu264delinsIleValLysArgSerLeuGluValTrpGlySerGlnGluAlaLeuGluGluAlaLysGluValArgGlnGluAsnArgGluLysMetLysGlnLysLysPheAspLysLysValLysGluValValProAlaPheLeuAsnArgProGlnArgAlaGluThrGlyValAspThrValGluIleArgHisLysGluLeuThrValGlnPheSerGlnLysAlaGlnAsnArgGluGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS306759"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 347,
          "referenceAllele": "C",
          "start": 346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012814",
      "geneNCBI_id": 7507,
      "geneSymbol": "XPA",
      "hgvs": [
        "ENST00000496104.1:n.347C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS332664"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825162408",
      "coordinates": [
        {
          "allele": "T",
          "end": 670,
          "referenceAllele": "C",
          "start": 669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012814",
      "geneNCBI_id": 7507,
      "geneSymbol": "XPA",
      "hgvs": [
        "NM_000380.3:c.553C>T",
        "LRG_471t1:c.553C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000371.1:p.Gln185Ter",
        "hgvsWellDefined": "NP_000371.1:p.Gln185_Met273delinsIleValLysArgSerLeuGluValTrpGlySerGlnGluAlaLeuGluGluAlaLysGluValArgGlnGluAsnArgGluLysMetLysGlnLysLysPheAspLysLysValLysGluLeuArgArgAlaValArgSerSerValTrpLysArgGluThrIleValHisGlnHisGluTyrGlyProGluGluAsnLeuGluAspAspMetTyrArgLysThrCysThrMetCysGlyHisGluLeuThrTyrGluLysMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006442"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 670,
          "referenceAllele": "C",
          "start": 669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012814",
      "geneNCBI_id": 7507,
      "geneSymbol": "XPA",
      "hgvs": [
        "NR_027302.1:n.670C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS047668"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 664,
          "referenceAllele": "C",
          "start": 663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012814",
      "geneNCBI_id": 7507,
      "geneSymbol": "XPA",
      "hgvs": [
        "XM_006717278.1:c.553C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717341.1:p.Gln185Ter",
        "hgvsWellDefined": "XP_006717341.1:p.Gln185_Gln262delinsIleValLysArgSerLeuGluValTrpGlySerGlnGluAlaLeuGluGluAlaLysGluValArgGlnGluAsnArgGluLysMetLysGlnLysLysPheAspLysLysValLysGluLeuArgArgAlaValArgSerSerValTrpLysArgGluThrIleValHisGlnHisGluTyrGlyProGluGluAsnLeuGluAspAspMetTyrProLeuLysTyrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072088"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 664,
          "referenceAllele": "C",
          "start": 663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012814",
      "geneNCBI_id": 7507,
      "geneSymbol": "XPA",
      "hgvs": [
        "XM_011518988.1:c.553C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517290.1:p.Gln185Ter",
        "hgvsWellDefined": "XP_011517290.1:p.Gln185_Asp273delinsIleValLysArgSerLeuGluValTrpGlySerGlnGluAlaLeuGluGluAlaLysGluValArgGlnGluAsnArgGluLysMetLysGlnLysLysPheAspLysLysValLysGluLeuArgArgAlaValArgSerSerValTrpLysArgGluThrIleValHisGlnHisGluTyrGlyProGluGluAsnLeuGluAspAspMetTyrArgAlaIleProThrGluAlaGlyThrLeuProGluPheHisLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086161"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 664,
          "referenceAllele": "C",
          "start": 663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012814",
      "geneNCBI_id": 7507,
      "geneSymbol": "XPA",
      "hgvs": [
        "XR_929839.1:n.664C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS125968"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828040916",
      "coordinates": [
        {
          "allele": "T",
          "end": 1693,
          "referenceAllele": "C",
          "start": 1692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012814",
      "geneNCBI_id": 7507,
      "geneSymbol": "XPA",
      "hgvs": [
        "NM_001354975.1:c.427C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341904.1:p.Gln143Ter",
        "hgvsWellDefined": "NP_001341904.1:p.Gln143_Met231delinsIleValLysArgSerLeuGluValTrpGlySerGlnGluAlaLeuGluGluAlaLysGluValArgGlnGluAsnArgGluLysMetLysGlnLysLysPheAspLysLysValLysGluLeuArgArgAlaValArgSerSerValTrpLysArgGluThrIleValHisGlnHisGluTyrGlyProGluGluAsnLeuGluAspAspMetTyrArgLysThrCysThrMetCysGlyHisGluLeuThrTyrGluLysMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522786"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 400,
          "endIntronDirection": "-",
          "endIntronOffset": 2057,
          "referenceAllele": "C",
          "start": 400,
          "startIntronDirection": "-",
          "startIntronOffset": 2058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012814",
      "geneNCBI_id": 7507,
      "geneSymbol": "XPA",
      "hgvs": [
        "NR_149091.1:n.401-2058C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531533"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 564,
          "referenceAllele": "C",
          "start": 563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012814",
      "geneNCBI_id": 7507,
      "geneSymbol": "XPA",
      "hgvs": [
        "NR_149092.1:n.564C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531534"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 670,
          "referenceAllele": "C",
          "start": 669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012814",
      "geneNCBI_id": 7507,
      "geneSymbol": "XPA",
      "hgvs": [
        "NR_149093.1:n.670C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531535"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 564,
          "referenceAllele": "C",
          "start": 563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012814",
      "geneNCBI_id": 7507,
      "geneSymbol": "XPA",
      "hgvs": [
        "NR_149094.1:n.564C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531536"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825162408",
      "coordinates": [
        {
          "allele": "T",
          "end": 601,
          "referenceAllele": "C",
          "start": 600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012814",
      "geneNCBI_id": 7507,
      "geneSymbol": "XPA",
      "hgvs": [
        "NM_000380.4:c.553C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000371.1:p.Gln185Ter",
        "hgvsWellDefined": "NP_000371.1:p.Gln185_Met273delinsIleValLysArgSerLeuGluValTrpGlySerGlnGluAlaLeuGluGluAlaLysGluValArgGlnGluAsnArgGluLysMetLysGlnLysLysPheAspLysLysValLysGluLeuArgArgAlaValArgSerSerValTrpLysArgGluThrIleValHisGlnHisGluTyrGlyProGluGluAsnLeuGluAspAspMetTyrArgLysThrCysThrMetCysGlyHisGluLeuThrTyrGluLysMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674819",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375128.5:c.553C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000380.4:c.553C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364270.5:p.Gln185Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000371.1:p.Gln185Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828040916",
      "coordinates": [
        {
          "allele": "T",
          "end": 1624,
          "referenceAllele": "C",
          "start": 1623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012814",
      "geneNCBI_id": 7507,
      "geneSymbol": "XPA",
      "hgvs": [
        "NM_001354975.2:c.427C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341904.1:p.Gln143Ter",
        "hgvsWellDefined": "NP_001341904.1:p.Gln143_Met231delinsIleValLysArgSerLeuGluValTrpGlySerGlnGluAlaLeuGluGluAlaLysGluValArgGlnGluAsnArgGluLysMetLysGlnLysLysPheAspLysLysValLysGluLeuArgArgAlaValArgSerSerValTrpLysArgGluThrIleValHisGlnHisGluTyrGlyProGluGluAsnLeuGluAspAspMetTyrArgLysThrCysThrMetCysGlyHisGluLeuThrTyrGluLysMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720597"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 601,
          "referenceAllele": "C",
          "start": 600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012814",
      "geneNCBI_id": 7507,
      "geneSymbol": "XPA",
      "hgvs": [
        "NR_027302.2:n.601C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730224"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 331,
          "endIntronDirection": "-",
          "endIntronOffset": 2057,
          "referenceAllele": "C",
          "start": 331,
          "startIntronDirection": "-",
          "startIntronOffset": 2058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012814",
      "geneNCBI_id": 7507,
      "geneSymbol": "XPA",
      "hgvs": [
        "NR_149091.2:n.332-2058C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731509"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 495,
          "referenceAllele": "C",
          "start": 494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012814",
      "geneNCBI_id": 7507,
      "geneSymbol": "XPA",
      "hgvs": [
        "NR_149092.2:n.495C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731510"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 601,
          "referenceAllele": "C",
          "start": 600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012814",
      "geneNCBI_id": 7507,
      "geneSymbol": "XPA",
      "hgvs": [
        "NR_149093.2:n.601C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731511"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 495,
          "referenceAllele": "C",
          "start": 494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012814",
      "geneNCBI_id": 7507,
      "geneSymbol": "XPA",
      "hgvs": [
        "NR_149094.2:n.495C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731512"
    }
  ],
  "type": "nucleotide"
}