{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA413923237",
  "communityStandardTitle": [
    "NM_000169.3(GLA):c.826A>C (p.Ser276Arg)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.100653531T>G?assembly=hg19",
        "id": "chrX:g.100653531T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.101398543T>G?assembly=hg38",
        "id": "chrX:g.101398543T>G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 101398543,
          "referenceAllele": "T",
          "start": 101398542
        }
      ],
      "hgvs": [
        "NC_000023.11:g.101398543T>G",
        "CM000685.2:g.101398543T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 100653531,
          "referenceAllele": "T",
          "start": 100653530
        }
      ],
      "hgvs": [
        "NC_000023.10:g.100653531T>G",
        "CM000685.1:g.100653531T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 100540187,
          "referenceAllele": "T",
          "start": 100540186
        }
      ],
      "hgvs": [
        "NC_000023.9:g.100540187T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 14421,
          "referenceAllele": "A",
          "start": 14420
        }
      ],
      "hgvs": [
        "NG_007119.1:g.14421A>C",
        "LRG_672:g.14421A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000493"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 963,
          "referenceAllele": "A",
          "start": 962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000486121.7:c.*272A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501124.2:n.*272A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914147"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1020,
          "referenceAllele": "A",
          "start": 1019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000674127.2:c.*329A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501044.2:n.*329A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914452"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 923,
          "referenceAllele": "A",
          "start": 922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000710365.1:c.901A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518234.1:p.Ser301Arg",
        "hgvsWellDefined": "ENSP00000518234.1:p.Ser301Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914527"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 848,
          "referenceAllele": "A",
          "start": 847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000218516.4:c.826A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000218516.4:p.Ser276Arg",
        "hgvsWellDefined": "ENSP00000218516.4:p.Ser276Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740403",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000218516.4:c.826A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000169.3:c.826A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000218516.4:p.Ser276Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000160.1:p.Ser276Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 962,
          "referenceAllele": "A",
          "start": 961
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000466414.2:n.962A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS756873"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1978,
          "referenceAllele": "A",
          "start": 1977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000468823.2:n.1978A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS756949"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1440,
          "referenceAllele": "A",
          "start": 1439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000479445.2:n.1440A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757304"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 843,
          "referenceAllele": "A",
          "start": 842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000480513.6:c.*134A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497055.1:n.*134A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757332"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 871,
          "referenceAllele": "A",
          "start": 870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000486121.6:c.871A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757527"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 958,
          "referenceAllele": "A",
          "start": 957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000649178.1:c.949A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498186.1:p.Ser317Arg",
        "hgvsWellDefined": "ENSP00000498186.1:p.Ser317Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770391"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 926,
          "referenceAllele": "A",
          "start": 925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000674127.1:c.926A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501044.1:n.926A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774146"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1130,
          "referenceAllele": "A",
          "start": 1129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000674142.1:n.1130A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774159"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 826,
          "referenceAllele": "A",
          "start": 825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000674634.2:c.826A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502629.2:p.Ser276Arg",
        "hgvsWellDefined": "ENSP00000502629.2:p.Ser276Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774573"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 801,
          "endIntronDirection": "+",
          "endIntronOffset": 242,
          "referenceAllele": "A",
          "start": 801,
          "startIntronDirection": "+",
          "startIntronOffset": 241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000675592.1:c.801+242A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502239.1:n.801+242A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775388"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1010,
          "referenceAllele": "A",
          "start": 1009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000675799.1:c.*351A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502661.1:n.*351A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775570"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3697,
          "referenceAllele": "A",
          "start": 3696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000675968.1:n.3697A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775716"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 790,
          "referenceAllele": "A",
          "start": 789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000676156.1:c.790A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501730.1:p.Ser264Arg",
        "hgvsWellDefined": "ENSP00000501730.1:p.Ser264Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775877"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 892,
          "referenceAllele": "A",
          "start": 891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000676372.1:c.892A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502805.1:n.892A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776062"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 848,
          "referenceAllele": "A",
          "start": 847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000218516.3:c.826A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000218516.3:p.Ser276Arg",
        "hgvsWellDefined": "ENSP00000218516.3:p.Ser276Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247314"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 332,
          "endIntronDirection": "+",
          "endIntronOffset": 3086,
          "referenceAllele": "T",
          "start": 332,
          "startIntronDirection": "+",
          "startIntronOffset": 3085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048349",
      "geneNCBI_id": 100529097,
      "geneSymbol": "RPL36A-HNRNPH2",
      "hgvs": [
        "ENST00000409170.3:c.300+3086T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386655.4:n.300+3086T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247292"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 210,
          "endIntronDirection": "+",
          "endIntronOffset": 6721,
          "referenceAllele": "T",
          "start": 210,
          "startIntronDirection": "+",
          "startIntronOffset": 6720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048349",
      "geneNCBI_id": 100529097,
      "geneSymbol": "RPL36A-HNRNPH2",
      "hgvs": [
        "ENST00000409338.5:c.177+6721T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386974.2:n.177+6721T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247190"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 152,
          "referenceAllele": "A",
          "start": 151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000466414.1:n.152A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309790"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 592,
          "referenceAllele": "A",
          "start": 591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000468823.1:n.592A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS311649"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 888,
          "referenceAllele": "A",
          "start": 887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000493905.6:c.*214A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000476935.1:n.*214A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS330958"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658801681",
      "coordinates": [
        {
          "allele": "C",
          "end": 936,
          "referenceAllele": "A",
          "start": 935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "NM_000169.2:c.826A>C",
        "LRG_672t1:c.826A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000160.1:p.Ser276Arg",
        "hgvsWellDefined": "NP_000160.1:p.Ser276Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006231"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 454,
          "endIntronDirection": "+",
          "endIntronOffset": 3086,
          "referenceAllele": "T",
          "start": 454,
          "startIntronDirection": "+",
          "startIntronOffset": 3085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048349",
      "geneNCBI_id": 100529097,
      "geneSymbol": "RPL36A-HNRNPH2",
      "hgvs": [
        "NM_001199973.1:c.408+3086T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186902.1:n.408+3086T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017283"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 331,
          "endIntronDirection": "+",
          "endIntronOffset": 6721,
          "referenceAllele": "T",
          "start": 331,
          "startIntronDirection": "+",
          "startIntronOffset": 6720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048349",
      "geneNCBI_id": 100529097,
      "geneSymbol": "RPL36A-HNRNPH2",
      "hgvs": [
        "NM_001199974.1:c.285+6721T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186903.1:n.285+6721T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017284"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 911,
          "referenceAllele": "A",
          "start": 910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "XR_938397.1:n.911A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133095"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 932,
          "referenceAllele": "A",
          "start": 931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "XR_938397.2:n.932A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS611908"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 333,
          "endIntronDirection": "+",
          "endIntronOffset": 3086,
          "referenceAllele": "T",
          "start": 333,
          "startIntronDirection": "+",
          "startIntronOffset": 3085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048349",
      "geneNCBI_id": 100529097,
      "geneSymbol": "RPL36A-HNRNPH2",
      "hgvs": [
        "NM_001199973.2:c.300+3086T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186902.2:n.300+3086T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664003"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 210,
          "endIntronDirection": "+",
          "endIntronOffset": 6721,
          "referenceAllele": "T",
          "start": 210,
          "startIntronDirection": "+",
          "startIntronOffset": 6720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048349",
      "geneNCBI_id": 100529097,
      "geneSymbol": "RPL36A-HNRNPH2",
      "hgvs": [
        "NM_001199974.2:c.177+6721T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186903.2:n.177+6721T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664004"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658801681",
      "coordinates": [
        {
          "allele": "C",
          "end": 848,
          "referenceAllele": "A",
          "start": 847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "NM_000169.3:c.826A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000160.1:p.Ser276Arg",
        "hgvsWellDefined": "NP_000160.1:p.Ser276Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674733",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000218516.4:c.826A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000169.3:c.826A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000218516.4:p.Ser276Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000160.1:p.Ser276Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 905,
          "referenceAllele": "A",
          "start": 904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "NR_164783.1:n.905A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705867"
    }
  ],
  "type": "nucleotide"
}