{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA413929232",
  "communityStandardTitle": [
    "NM_000169.3(GLA):c.484T>A (p.Trp162Arg)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.100656683A>T?assembly=hg19",
        "id": "chrX:g.100656683A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.101401695A>T?assembly=hg38",
        "id": "chrX:g.101401695A>T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 101401695,
          "referenceAllele": "A",
          "start": 101401694
        }
      ],
      "hgvs": [
        "NC_000023.11:g.101401695A>T",
        "CM000685.2:g.101401695A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 100656683,
          "referenceAllele": "A",
          "start": 100656682
        }
      ],
      "hgvs": [
        "NC_000023.10:g.100656683A>T",
        "CM000685.1:g.100656683A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 100543339,
          "referenceAllele": "A",
          "start": 100543338
        }
      ],
      "hgvs": [
        "NC_000023.9:g.100543339A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11269,
          "referenceAllele": "T",
          "start": 11268
        }
      ],
      "hgvs": [
        "NG_007119.1:g.11269T>A",
        "LRG_672:g.11269T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000493"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 506,
          "referenceAllele": "T",
          "start": 505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000486121.7:c.484T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501124.2:p.Trp162Arg",
        "hgvsWellDefined": "ENSP00000501124.2:p.Trp162Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914147"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 506,
          "referenceAllele": "T",
          "start": 505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000674127.2:c.484T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501044.2:p.Trp162Arg",
        "hgvsWellDefined": "ENSP00000501044.2:p.Trp162Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914452"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 581,
          "referenceAllele": "T",
          "start": 580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000710365.1:c.559T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518234.1:p.Trp187Arg",
        "hgvsWellDefined": "ENSP00000518234.1:p.Trp187Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914527"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 506,
          "referenceAllele": "T",
          "start": 505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000218516.4:c.484T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000218516.4:p.Trp162Arg",
        "hgvsWellDefined": "ENSP00000218516.4:p.Trp162Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740403",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000218516.4:c.484T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000169.3:c.484T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000218516.4:p.Trp162Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000160.1:p.Trp162Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 403,
          "referenceAllele": "T",
          "start": 402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000466414.2:n.403T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS756873"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 545,
          "referenceAllele": "T",
          "start": 544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000468823.2:n.545T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS756949"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 482,
          "referenceAllele": "T",
          "start": 481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000479445.2:n.482T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757304"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 593,
          "referenceAllele": "T",
          "start": 592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000480513.6:c.484T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497055.1:p.Trp162Arg",
        "hgvsWellDefined": "ENSP00000497055.1:p.Trp162Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757332"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 414,
          "referenceAllele": "T",
          "start": 413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000486121.6:c.414T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757527"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 616,
          "referenceAllele": "T",
          "start": 615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000649178.1:c.607T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498186.1:p.Trp203Arg",
        "hgvsWellDefined": "ENSP00000498186.1:p.Trp203Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770391"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 412,
          "referenceAllele": "T",
          "start": 411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000674127.1:c.412T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501044.1:p.Trp138Arg",
        "hgvsWellDefined": "ENSP00000501044.1:p.Trp138Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774146"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 571,
          "referenceAllele": "T",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000674142.1:n.571T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774159"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 484,
          "referenceAllele": "T",
          "start": 483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000674634.2:c.484T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502629.2:p.Trp162Arg",
        "hgvsWellDefined": "ENSP00000502629.2:p.Trp162Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774573"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 484,
          "referenceAllele": "T",
          "start": 483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000675592.1:c.484T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502239.1:p.Trp162Arg",
        "hgvsWellDefined": "ENSP00000502239.1:p.Trp162Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775388"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 543,
          "referenceAllele": "T",
          "start": 542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000675799.1:c.484T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502661.1:p.Trp162Arg",
        "hgvsWellDefined": "ENSP00000502661.1:p.Trp162Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775570"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 545,
          "referenceAllele": "T",
          "start": 544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000675968.1:n.545T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775716"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 484,
          "referenceAllele": "T",
          "start": 483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000676156.1:c.484T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501730.1:p.Trp162Arg",
        "hgvsWellDefined": "ENSP00000501730.1:p.Trp162Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775877"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 484,
          "referenceAllele": "T",
          "start": 483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000676372.1:c.484T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502805.1:p.Trp162Arg",
        "hgvsWellDefined": "ENSP00000502805.1:p.Trp162Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776062"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 506,
          "referenceAllele": "T",
          "start": 505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000218516.3:c.484T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000218516.3:p.Trp162Arg",
        "hgvsWellDefined": "ENSP00000218516.3:p.Trp162Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247314"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 332,
          "endIntronDirection": "+",
          "endIntronOffset": 6238,
          "referenceAllele": "A",
          "start": 332,
          "startIntronDirection": "+",
          "startIntronOffset": 6237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048349",
      "geneNCBI_id": 100529097,
      "geneSymbol": "RPL36A-HNRNPH2",
      "hgvs": [
        "ENST00000409170.3:c.300+6238A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386655.4:n.300+6238A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247292"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 210,
          "endIntronDirection": "+",
          "endIntronOffset": 9873,
          "referenceAllele": "A",
          "start": 210,
          "startIntronDirection": "+",
          "startIntronOffset": 9872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048349",
      "geneNCBI_id": 100529097,
      "geneSymbol": "RPL36A-HNRNPH2",
      "hgvs": [
        "ENST00000409338.5:c.177+9873A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386974.2:n.177+9873A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247190"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 468,
          "referenceAllele": "T",
          "start": 467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000479445.1:n.468T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319822"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 414,
          "referenceAllele": "T",
          "start": 413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000480513.5:n.414T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS320644"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 414,
          "referenceAllele": "T",
          "start": 413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000486121.5:n.414T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 489,
          "referenceAllele": "T",
          "start": 488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000493905.6:c.484T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000476935.1:p.Trp162Arg",
        "hgvsWellDefined": "ENSP00000476935.1:p.Trp162Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS330958"
    },
    {
      "@id": "http://reg.genome.network/allele/PA100566",
      "coordinates": [
        {
          "allele": "A",
          "end": 594,
          "referenceAllele": "T",
          "start": 593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "NM_000169.2:c.484T>A",
        "LRG_672t1:c.484T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000160.1:p.Trp162Arg",
        "hgvsWellDefined": "NP_000160.1:p.Trp162Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006231"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 454,
          "endIntronDirection": "+",
          "endIntronOffset": 6238,
          "referenceAllele": "A",
          "start": 454,
          "startIntronDirection": "+",
          "startIntronOffset": 6237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048349",
      "geneNCBI_id": 100529097,
      "geneSymbol": "RPL36A-HNRNPH2",
      "hgvs": [
        "NM_001199973.1:c.408+6238A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186902.1:n.408+6238A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017283"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 331,
          "endIntronDirection": "+",
          "endIntronOffset": 9873,
          "referenceAllele": "A",
          "start": 331,
          "startIntronDirection": "+",
          "startIntronOffset": 9872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048349",
      "geneNCBI_id": 100529097,
      "geneSymbol": "RPL36A-HNRNPH2",
      "hgvs": [
        "NM_001199974.1:c.285+9873A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186903.1:n.285+9873A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017284"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 512,
          "referenceAllele": "T",
          "start": 511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "XR_938397.1:n.512T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133095"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 533,
          "referenceAllele": "T",
          "start": 532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "XR_938397.2:n.533T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS611908"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 333,
          "endIntronDirection": "+",
          "endIntronOffset": 6238,
          "referenceAllele": "A",
          "start": 333,
          "startIntronDirection": "+",
          "startIntronOffset": 6237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048349",
      "geneNCBI_id": 100529097,
      "geneSymbol": "RPL36A-HNRNPH2",
      "hgvs": [
        "NM_001199973.2:c.300+6238A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186902.2:n.300+6238A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 210,
          "endIntronDirection": "+",
          "endIntronOffset": 9873,
          "referenceAllele": "A",
          "start": 210,
          "startIntronDirection": "+",
          "startIntronOffset": 9872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048349",
      "geneNCBI_id": 100529097,
      "geneSymbol": "RPL36A-HNRNPH2",
      "hgvs": [
        "NM_001199974.2:c.177+9873A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186903.2:n.177+9873A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664004"
    },
    {
      "@id": "http://reg.genome.network/allele/PA100566",
      "coordinates": [
        {
          "allele": "A",
          "end": 506,
          "referenceAllele": "T",
          "start": 505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "NM_000169.3:c.484T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000160.1:p.Trp162Arg",
        "hgvsWellDefined": "NP_000160.1:p.Trp162Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674733",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000218516.4:c.484T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000169.3:c.484T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000218516.4:p.Trp162Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000160.1:p.Trp162Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 506,
          "referenceAllele": "T",
          "start": 505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "NR_164783.1:n.506T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705867"
    }
  ],
  "type": "nucleotide"
}