{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA413919083",
  "communityStandardTitle": [
    "NM_000169.3(GLA):c.1235C>T (p.Thr412Ile)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1464408",
        "active": true,
        "id": "COSM1464408"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1065104[alleleid]",
        "alleleId": 1065104,
        "preferredName": "NM_000169.3(GLA):c.1235C>T (p.Thr412Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1071124",
        "RCV": [
          "RCV001383502",
          "RCV001780327"
        ],
        "variationId": 1071124
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.100652852G>A?assembly=hg19",
        "id": "chrX:g.100652852G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.101397864G>A?assembly=hg38",
        "id": "chrX:g.101397864G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2147470514",
        "rs": 2147470514
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 101397864,
          "referenceAllele": "G",
          "start": 101397863
        }
      ],
      "hgvs": [
        "NC_000023.11:g.101397864G>A",
        "CM000685.2:g.101397864G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 100652852,
          "referenceAllele": "G",
          "start": 100652851
        }
      ],
      "hgvs": [
        "NC_000023.10:g.100652852G>A",
        "CM000685.1:g.100652852G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 100539508,
          "referenceAllele": "G",
          "start": 100539507
        }
      ],
      "hgvs": [
        "NC_000023.9:g.100539508G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 15100,
          "referenceAllele": "C",
          "start": 15099
        }
      ],
      "hgvs": [
        "NG_007119.1:g.15100C>T",
        "LRG_672:g.15100C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000493"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1429,
          "referenceAllele": "C",
          "start": 1428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000674127.2:c.*738C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501044.2:n.*738C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914452"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1332,
          "referenceAllele": "C",
          "start": 1331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000710365.1:c.1310C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518234.1:p.Thr437Ile",
        "hgvsWellDefined": "ENSP00000518234.1:p.Thr437Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914527"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1257,
          "referenceAllele": "C",
          "start": 1256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000218516.4:c.1235C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000218516.4:p.Thr412Ile",
        "hgvsWellDefined": "ENSP00000218516.4:p.Thr412Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740403",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000218516.4:c.1235C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000169.3:c.1235C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000218516.4:p.Thr412Ile"
          },
          "RefSeq": {
            "hgvs": "NP_000160.1:p.Thr412Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1371,
          "referenceAllele": "C",
          "start": 1370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000466414.2:n.1371C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS756873"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2657,
          "referenceAllele": "C",
          "start": 2656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000468823.2:n.2657C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS756949"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1849,
          "referenceAllele": "C",
          "start": 1848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000479445.2:n.1849C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757304"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1367,
          "referenceAllele": "C",
          "start": 1366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000649178.1:c.1358C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498186.1:p.Thr453Ile",
        "hgvsWellDefined": "ENSP00000498186.1:p.Thr453Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770391"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1335,
          "referenceAllele": "C",
          "start": 1334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000674127.1:c.1335C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501044.1:n.1335C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774146"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1421,
          "endIntronDirection": "+",
          "endIntronOffset": 118,
          "referenceAllele": "C",
          "start": 1421,
          "startIntronDirection": "+",
          "startIntronOffset": 117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000674142.1:n.1421+118C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774159"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1037,
          "referenceAllele": "C",
          "start": 1036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000675592.1:c.1037C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502239.1:p.Thr346Ile",
        "hgvsWellDefined": "ENSP00000502239.1:p.Thr346Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775388"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1419,
          "referenceAllele": "C",
          "start": 1418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000675799.1:c.*760C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502661.1:n.*760C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775570"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4106,
          "referenceAllele": "C",
          "start": 4105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000675968.1:n.4106C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775716"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1199,
          "referenceAllele": "C",
          "start": 1198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000676156.1:c.1199C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501730.1:p.Thr400Ile",
        "hgvsWellDefined": "ENSP00000501730.1:p.Thr400Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775877"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1301,
          "referenceAllele": "C",
          "start": 1300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000676372.1:c.1301C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502805.1:n.1301C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776062"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1257,
          "referenceAllele": "C",
          "start": 1256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000218516.3:c.1235C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000218516.3:p.Thr412Ile",
        "hgvsWellDefined": "ENSP00000218516.3:p.Thr412Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247314"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 332,
          "endIntronDirection": "+",
          "endIntronOffset": 2407,
          "referenceAllele": "G",
          "start": 332,
          "startIntronDirection": "+",
          "startIntronOffset": 2406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048349",
      "geneNCBI_id": 100529097,
      "geneSymbol": "RPL36A-HNRNPH2",
      "hgvs": [
        "ENST00000409170.3:c.300+2407G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386655.4:n.300+2407G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247292"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 210,
          "endIntronDirection": "+",
          "endIntronOffset": 6042,
          "referenceAllele": "G",
          "start": 210,
          "startIntronDirection": "+",
          "startIntronOffset": 6041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048349",
      "geneNCBI_id": 100529097,
      "geneSymbol": "RPL36A-HNRNPH2",
      "hgvs": [
        "ENST00000409338.5:c.177+6042G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386974.2:n.177+6042G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247190"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 561,
          "referenceAllele": "C",
          "start": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000466414.1:n.561C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309790"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1297,
          "referenceAllele": "C",
          "start": 1296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000493905.6:c.*623C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000476935.1:n.*623C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS330958"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499229247",
      "coordinates": [
        {
          "allele": "T",
          "end": 1345,
          "referenceAllele": "C",
          "start": 1344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "NM_000169.2:c.1235C>T",
        "LRG_672t1:c.1235C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000160.1:p.Thr412Ile",
        "hgvsWellDefined": "NP_000160.1:p.Thr412Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006231"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 454,
          "endIntronDirection": "+",
          "endIntronOffset": 2407,
          "referenceAllele": "G",
          "start": 454,
          "startIntronDirection": "+",
          "startIntronOffset": 2406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048349",
      "geneNCBI_id": 100529097,
      "geneSymbol": "RPL36A-HNRNPH2",
      "hgvs": [
        "NM_001199973.1:c.408+2407G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186902.1:n.408+2407G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017283"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 331,
          "endIntronDirection": "+",
          "endIntronOffset": 6042,
          "referenceAllele": "G",
          "start": 331,
          "startIntronDirection": "+",
          "startIntronOffset": 6041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048349",
      "geneNCBI_id": 100529097,
      "geneSymbol": "RPL36A-HNRNPH2",
      "hgvs": [
        "NM_001199974.1:c.285+6042G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186903.1:n.285+6042G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017284"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1320,
          "referenceAllele": "C",
          "start": 1319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "XR_938397.1:n.1320C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133095"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1341,
          "referenceAllele": "C",
          "start": 1340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "XR_938397.2:n.1341C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS611908"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 333,
          "endIntronDirection": "+",
          "endIntronOffset": 2407,
          "referenceAllele": "G",
          "start": 333,
          "startIntronDirection": "+",
          "startIntronOffset": 2406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048349",
      "geneNCBI_id": 100529097,
      "geneSymbol": "RPL36A-HNRNPH2",
      "hgvs": [
        "NM_001199973.2:c.300+2407G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186902.2:n.300+2407G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 210,
          "endIntronDirection": "+",
          "endIntronOffset": 6042,
          "referenceAllele": "G",
          "start": 210,
          "startIntronDirection": "+",
          "startIntronOffset": 6041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048349",
      "geneNCBI_id": 100529097,
      "geneSymbol": "RPL36A-HNRNPH2",
      "hgvs": [
        "NM_001199974.2:c.177+6042G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186903.2:n.177+6042G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664004"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499229247",
      "coordinates": [
        {
          "allele": "T",
          "end": 1257,
          "referenceAllele": "C",
          "start": 1256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "NM_000169.3:c.1235C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000160.1:p.Thr412Ile",
        "hgvsWellDefined": "NP_000160.1:p.Thr412Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674733",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000218516.4:c.1235C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000169.3:c.1235C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000218516.4:p.Thr412Ile"
          },
          "RefSeq": {
            "hgvs": "NP_000160.1:p.Thr412Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1314,
          "referenceAllele": "C",
          "start": 1313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "NR_164783.1:n.1314C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705867"
    }
  ],
  "type": "nucleotide"
}