{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA213169",
  "communityStandardTitle": [
    "NM_139058.3(ARX):c.1117C>T (p.Gln373Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=26232[alleleid]",
        "alleleId": 26232,
        "preferredName": "NM_139058.3(ARX):c.1117C>T (p.Gln373Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/11193",
        "RCV": [
          "RCV000011944"
        ],
        "variationId": 11193
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.25028379G>A?assembly=hg19",
        "id": "chrX:g.25028379G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.25010262G>A?assembly=hg38",
        "id": "chrX:g.25010262G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894740",
        "rs": 104894740
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 25010262,
          "referenceAllele": "G",
          "start": 25010261
        }
      ],
      "hgvs": [
        "NC_000023.11:g.25010262G>A",
        "CM000685.2:g.25010262G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 25028379,
          "referenceAllele": "G",
          "start": 25028378
        }
      ],
      "hgvs": [
        "NC_000023.10:g.25028379G>A",
        "CM000685.1:g.25028379G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 24938300,
          "referenceAllele": "G",
          "start": 24938299
        }
      ],
      "hgvs": [
        "NC_000023.9:g.24938300G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10687,
          "referenceAllele": "C",
          "start": 10686
        }
      ],
      "hgvs": [
        "NG_008281.1:g.10687C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000995"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1345,
          "referenceAllele": "C",
          "start": 1344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018060",
      "geneNCBI_id": 170302,
      "geneSymbol": "ARX",
      "hgvs": [
        "ENST00000379044.5:c.1117C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368332.4:p.Gln373Ter",
        "hgvsWellDefined": "ENSP00000368332.4:p.Gln373_Cys562delinsValTrpPheGlnAsnArgArgAlaLysTrpArgLysArgGluLysAlaGlyAlaGlnThrHisProProGlyLeuProPheProGlyProLeuSerAlaThrHisProLeuSerProTyrLeuAspAlaSerProPheProProHisHisProAlaLeuAspSerAlaTrpThrAlaAlaAlaAlaAlaAlaAlaAlaAlaPheProSerLeuProProProProGlySerAlaSerLeuProProSerGlyAlaProLeuGlyLeuSerThrPheLeuGlyAlaAlaValPheArgHisProAlaPheIleSerProAlaPheGlyArgLeuPheSerThrMetAlaProLeuThrSerAlaSerThrAlaAlaAlaLeuLeuArgGlnProThrProAlaValGluGlyAlaValAlaSerGlyAlaLeuAlaAspProAlaThrAlaAlaAlaAspArgArgAlaSerSerIleAlaAlaLeuArgLeuLysAlaLysGluHisAlaAlaGlnLeuThrGlnLeuAsnIleLeuProGlyThrSerThrGlyLysGluValCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752163",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000379044.5:c.1117C>T"
          },
          "RefSeq": {
            "hgvs": "NM_139058.3:c.1117C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368332.4:p.Gln373Ter"
          },
          "RefSeq": {
            "hgvs": "NP_620689.1:p.Gln373Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1328,
          "referenceAllele": "C",
          "start": 1327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018060",
      "geneNCBI_id": 170302,
      "geneSymbol": "ARX",
      "hgvs": [
        "ENST00000379044.4:c.1117C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368332.4:p.Gln373Ter",
        "hgvsWellDefined": "ENSP00000368332.4:p.Gln373_Cys562delinsValTrpPheGlnAsnArgArgAlaLysTrpArgLysArgGluLysAlaGlyAlaGlnThrHisProProGlyLeuProPheProGlyProLeuSerAlaThrHisProLeuSerProTyrLeuAspAlaSerProPheProProHisHisProAlaLeuAspSerAlaTrpThrAlaAlaAlaAlaAlaAlaAlaAlaAlaPheProSerLeuProProProProGlySerAlaSerLeuProProSerGlyAlaProLeuGlyLeuSerThrPheLeuGlyAlaAlaValPheArgHisProAlaPheIleSerProAlaPheGlyArgLeuPheSerThrMetAlaProLeuThrSerAlaSerThrAlaAlaAlaLeuLeuArgGlnProThrProAlaValGluGlyAlaValAlaSerGlyAlaLeuAlaAspProAlaThrAlaAlaAlaAspArgArgAlaSerSerIleAlaAlaLeuArgLeuLysAlaLysGluHisAlaAlaGlnLeuThrGlnLeuAsnIleLeuProGlyThrSerThrGlyLysGluValCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272310"
    },
    {
      "@id": "http://reg.genome.network/allele/PA213170",
      "coordinates": [
        {
          "allele": "T",
          "end": 1328,
          "referenceAllele": "C",
          "start": 1327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018060",
      "geneNCBI_id": 170302,
      "geneSymbol": "ARX",
      "hgvs": [
        "NM_139058.2:c.1117C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_620689.1:p.Gln373Ter",
        "hgvsWellDefined": "NP_620689.1:p.Gln373_Cys562delinsValTrpPheGlnAsnArgArgAlaLysTrpArgLysArgGluLysAlaGlyAlaGlnThrHisProProGlyLeuProPheProGlyProLeuSerAlaThrHisProLeuSerProTyrLeuAspAlaSerProPheProProHisHisProAlaLeuAspSerAlaTrpThrAlaAlaAlaAlaAlaAlaAlaAlaAlaPheProSerLeuProProProProGlySerAlaSerLeuProProSerGlyAlaProLeuGlyLeuSerThrPheLeuGlyAlaAlaValPheArgHisProAlaPheIleSerProAlaPheGlyArgLeuPheSerThrMetAlaProLeuThrSerAlaSerThrAlaAlaAlaLeuLeuArgGlnProThrProAlaValGluGlyAlaValAlaSerGlyAlaLeuAlaAspProAlaThrAlaAlaAlaAspArgArgAlaSerSerIleAlaAlaLeuArgLeuLysAlaLysGluHisAlaAlaGlnLeuThrGlnLeuAsnIleLeuProGlyThrSerThrGlyLysGluValCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040971"
    },
    {
      "@id": "http://reg.genome.network/allele/PA213170",
      "coordinates": [
        {
          "allele": "T",
          "end": 1345,
          "referenceAllele": "C",
          "start": 1344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018060",
      "geneNCBI_id": 170302,
      "geneSymbol": "ARX",
      "hgvs": [
        "NM_139058.3:c.1117C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_620689.1:p.Gln373Ter",
        "hgvsWellDefined": "NP_620689.1:p.Gln373_Cys562delinsValTrpPheGlnAsnArgArgAlaLysTrpArgLysArgGluLysAlaGlyAlaGlnThrHisProProGlyLeuProPheProGlyProLeuSerAlaThrHisProLeuSerProTyrLeuAspAlaSerProPheProProHisHisProAlaLeuAspSerAlaTrpThrAlaAlaAlaAlaAlaAlaAlaAlaAlaPheProSerLeuProProProProGlySerAlaSerLeuProProSerGlyAlaProLeuGlyLeuSerThrPheLeuGlyAlaAlaValPheArgHisProAlaPheIleSerProAlaPheGlyArgLeuPheSerThrMetAlaProLeuThrSerAlaSerThrAlaAlaAlaLeuLeuArgGlnProThrProAlaValGluGlyAlaValAlaSerGlyAlaLeuAlaAspProAlaThrAlaAlaAlaAspArgArgAlaSerSerIleAlaAlaLeuArgLeuLysAlaLysGluHisAlaAlaGlnLeuThrGlnLeuAsnIleLeuProGlyThrSerThrGlyLysGluValCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671983",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000379044.5:c.1117C>T"
          },
          "RefSeq": {
            "hgvs": "NM_139058.3:c.1117C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368332.4:p.Gln373Ter"
          },
          "RefSeq": {
            "hgvs": "NP_620689.1:p.Gln373Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}