{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA413934453",
  "communityStandardTitle": [
    "NM_000169.3(GLA):c.215T>C (p.Met72Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1879603[alleleid]",
        "alleleId": 1879603,
        "preferredName": "NM_000169.3(GLA):c.215T>C (p.Met72Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2143823",
        "RCV": [
          "RCV003062810"
        ],
        "variationId": 2143823
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.100658953A>G?assembly=hg19",
        "id": "chrX:g.100658953A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.101403965A>G?assembly=hg38",
        "id": "chrX:g.101403965A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1569304920",
        "rs": 1569304920
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 101403965,
          "referenceAllele": "A",
          "start": 101403964
        }
      ],
      "hgvs": [
        "NC_000023.11:g.101403965A>G",
        "CM000685.2:g.101403965A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 100658953,
          "referenceAllele": "A",
          "start": 100658952
        }
      ],
      "hgvs": [
        "NC_000023.10:g.100658953A>G",
        "CM000685.1:g.100658953A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 100545609,
          "referenceAllele": "A",
          "start": 100545608
        }
      ],
      "hgvs": [
        "NC_000023.9:g.100545609A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8999,
          "referenceAllele": "T",
          "start": 8998
        }
      ],
      "hgvs": [
        "NG_007119.1:g.8999T>C",
        "LRG_672:g.8999T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000493"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 763,
          "referenceAllele": "A",
          "start": 762
        }
      ],
      "hgvs": [
        "NG_016327.1:g.763A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003097"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 237,
          "referenceAllele": "T",
          "start": 236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000486121.7:c.215T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501124.2:p.Met72Thr",
        "hgvsWellDefined": "ENSP00000501124.2:p.Met72Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914147"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 237,
          "referenceAllele": "T",
          "start": 236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000674127.2:c.215T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501044.2:p.Met72Thr",
        "hgvsWellDefined": "ENSP00000501044.2:p.Met72Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914452"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 312,
          "referenceAllele": "T",
          "start": 311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000710365.1:c.290T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518234.1:p.Met97Thr",
        "hgvsWellDefined": "ENSP00000518234.1:p.Met97Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914527"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 237,
          "referenceAllele": "T",
          "start": 236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000218516.4:c.215T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000218516.4:p.Met72Thr",
        "hgvsWellDefined": "ENSP00000218516.4:p.Met72Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740403",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000218516.4:c.215T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000169.3:c.215T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000218516.4:p.Met72Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000160.1:p.Met72Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 134,
          "referenceAllele": "T",
          "start": 133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000466414.2:n.134T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS756873"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 276,
          "referenceAllele": "T",
          "start": 275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000468823.2:n.276T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS756949"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 213,
          "referenceAllele": "T",
          "start": 212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000479445.2:n.213T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757304"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 324,
          "referenceAllele": "T",
          "start": 323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000480513.6:c.215T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497055.1:p.Met72Thr",
        "hgvsWellDefined": "ENSP00000497055.1:p.Met72Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757332"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 145,
          "referenceAllele": "T",
          "start": 144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000486121.6:c.145T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757527"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 347,
          "referenceAllele": "T",
          "start": 346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000649178.1:c.338T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498186.1:p.Met113Thr",
        "hgvsWellDefined": "ENSP00000498186.1:p.Met113Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770391"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 143,
          "referenceAllele": "T",
          "start": 142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000674127.1:c.143T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501044.1:p.Met48Thr",
        "hgvsWellDefined": "ENSP00000501044.1:p.Met48Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774146"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 302,
          "referenceAllele": "T",
          "start": 301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000674142.1:n.302T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774159"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 215,
          "referenceAllele": "T",
          "start": 214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000674634.2:c.215T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502629.2:p.Met72Thr",
        "hgvsWellDefined": "ENSP00000502629.2:p.Met72Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774573"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 215,
          "referenceAllele": "T",
          "start": 214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000675592.1:c.215T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502239.1:p.Met72Thr",
        "hgvsWellDefined": "ENSP00000502239.1:p.Met72Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775388"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 274,
          "referenceAllele": "T",
          "start": 273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000675799.1:c.215T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502661.1:p.Met72Thr",
        "hgvsWellDefined": "ENSP00000502661.1:p.Met72Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775570"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 276,
          "referenceAllele": "T",
          "start": 275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000675968.1:n.276T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775716"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 215,
          "referenceAllele": "T",
          "start": 214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000676156.1:c.215T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501730.1:p.Met72Thr",
        "hgvsWellDefined": "ENSP00000501730.1:p.Met72Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775877"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 215,
          "referenceAllele": "T",
          "start": 214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000676372.1:c.215T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502805.1:p.Met72Thr",
        "hgvsWellDefined": "ENSP00000502805.1:p.Met72Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776062"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 237,
          "referenceAllele": "T",
          "start": 236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000218516.3:c.215T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000218516.3:p.Met72Thr",
        "hgvsWellDefined": "ENSP00000218516.3:p.Met72Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247314"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 332,
          "endIntronDirection": "-",
          "endIntronOffset": 7970,
          "referenceAllele": "A",
          "start": 332,
          "startIntronDirection": "-",
          "startIntronOffset": 7971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048349",
      "geneNCBI_id": 100529097,
      "geneSymbol": "RPL36A-HNRNPH2",
      "hgvs": [
        "ENST00000409170.3:c.301-7971A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386655.4:n.301-7971A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247292"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 210,
          "endIntronDirection": "-",
          "endIntronOffset": 7970,
          "referenceAllele": "A",
          "start": 210,
          "startIntronDirection": "-",
          "startIntronOffset": 7971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048349",
      "geneNCBI_id": 100529097,
      "geneSymbol": "RPL36A-HNRNPH2",
      "hgvs": [
        "ENST00000409338.5:c.178-7971A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386974.2:n.178-7971A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247190"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 199,
          "referenceAllele": "T",
          "start": 198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000479445.1:n.199T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319822"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 145,
          "referenceAllele": "T",
          "start": 144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000480513.5:n.145T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS320644"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 145,
          "referenceAllele": "T",
          "start": 144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000486121.5:n.145T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325003"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 220,
          "referenceAllele": "T",
          "start": 219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000493905.6:c.215T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000476935.1:p.Met72Thr",
        "hgvsWellDefined": "ENSP00000476935.1:p.Met72Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS330958"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825080001",
      "coordinates": [
        {
          "allele": "C",
          "end": 325,
          "referenceAllele": "T",
          "start": 324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "NM_000169.2:c.215T>C",
        "LRG_672t1:c.215T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000160.1:p.Met72Thr",
        "hgvsWellDefined": "NP_000160.1:p.Met72Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006231"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 454,
          "endIntronDirection": "-",
          "endIntronOffset": 7970,
          "referenceAllele": "A",
          "start": 454,
          "startIntronDirection": "-",
          "startIntronOffset": 7971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048349",
      "geneNCBI_id": 100529097,
      "geneSymbol": "RPL36A-HNRNPH2",
      "hgvs": [
        "NM_001199973.1:c.409-7971A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186902.1:n.409-7971A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017283"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 331,
          "endIntronDirection": "-",
          "endIntronOffset": 7970,
          "referenceAllele": "A",
          "start": 331,
          "startIntronDirection": "-",
          "startIntronOffset": 7971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048349",
      "geneNCBI_id": 100529097,
      "geneSymbol": "RPL36A-HNRNPH2",
      "hgvs": [
        "NM_001199974.1:c.286-7971A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186903.1:n.286-7971A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017284"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 243,
          "referenceAllele": "T",
          "start": 242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "XR_938397.1:n.243T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133095"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 264,
          "referenceAllele": "T",
          "start": 263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "XR_938397.2:n.264T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS611908"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 333,
          "endIntronDirection": "-",
          "endIntronOffset": 7970,
          "referenceAllele": "A",
          "start": 333,
          "startIntronDirection": "-",
          "startIntronOffset": 7971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048349",
      "geneNCBI_id": 100529097,
      "geneSymbol": "RPL36A-HNRNPH2",
      "hgvs": [
        "NM_001199973.2:c.301-7971A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186902.2:n.301-7971A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664003"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 210,
          "endIntronDirection": "-",
          "endIntronOffset": 7970,
          "referenceAllele": "A",
          "start": 210,
          "startIntronDirection": "-",
          "startIntronOffset": 7971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048349",
      "geneNCBI_id": 100529097,
      "geneSymbol": "RPL36A-HNRNPH2",
      "hgvs": [
        "NM_001199974.2:c.178-7971A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186903.2:n.178-7971A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664004"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825080001",
      "coordinates": [
        {
          "allele": "C",
          "end": 237,
          "referenceAllele": "T",
          "start": 236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "NM_000169.3:c.215T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000160.1:p.Met72Thr",
        "hgvsWellDefined": "NP_000160.1:p.Met72Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674733",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000218516.4:c.215T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000169.3:c.215T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000218516.4:p.Met72Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000160.1:p.Met72Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 237,
          "referenceAllele": "T",
          "start": 236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "NR_164783.1:n.237T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705867"
    }
  ],
  "type": "nucleotide"
}