{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA413920582",
  "communityStandardTitle": [
    "NM_000169.3(GLA):c.1115T>C (p.Leu372Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=999567[alleleid]",
        "alleleId": 999567,
        "preferredName": "NM_000169.3(GLA):c.1115T>C (p.Leu372Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1002553",
        "RCV": [
          "RCV001298998"
        ],
        "variationId": 1002553
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.100652972A>G?assembly=hg19",
        "id": "chrX:g.100652972A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.101397984A>G?assembly=hg38",
        "id": "chrX:g.101397984A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1928127729",
        "rs": 1928127729
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 101397984,
          "referenceAllele": "A",
          "start": 101397983
        }
      ],
      "hgvs": [
        "NC_000023.11:g.101397984A>G",
        "CM000685.2:g.101397984A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 100652972,
          "referenceAllele": "A",
          "start": 100652971
        }
      ],
      "hgvs": [
        "NC_000023.10:g.100652972A>G",
        "CM000685.1:g.100652972A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 100539628,
          "referenceAllele": "A",
          "start": 100539627
        }
      ],
      "hgvs": [
        "NC_000023.9:g.100539628A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 14980,
          "referenceAllele": "T",
          "start": 14979
        }
      ],
      "hgvs": [
        "NG_007119.1:g.14980T>C",
        "LRG_672:g.14980T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000493"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1252,
          "referenceAllele": "T",
          "start": 1251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000486121.7:c.*561T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501124.2:n.*561T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914147"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1309,
          "referenceAllele": "T",
          "start": 1308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000674127.2:c.*618T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501044.2:n.*618T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914452"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1212,
          "referenceAllele": "T",
          "start": 1211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000710365.1:c.1190T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518234.1:p.Leu397Pro",
        "hgvsWellDefined": "ENSP00000518234.1:p.Leu397Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914527"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1137,
          "referenceAllele": "T",
          "start": 1136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000218516.4:c.1115T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000218516.4:p.Leu372Pro",
        "hgvsWellDefined": "ENSP00000218516.4:p.Leu372Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740403",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000218516.4:c.1115T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000169.3:c.1115T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000218516.4:p.Leu372Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000160.1:p.Leu372Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1251,
          "referenceAllele": "T",
          "start": 1250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000466414.2:n.1251T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS756873"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2537,
          "referenceAllele": "T",
          "start": 2536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000468823.2:n.2537T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS756949"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1729,
          "referenceAllele": "T",
          "start": 1728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000479445.2:n.1729T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757304"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1132,
          "referenceAllele": "T",
          "start": 1131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000480513.6:c.*423T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497055.1:n.*423T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757332"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1160,
          "referenceAllele": "T",
          "start": 1159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000486121.6:c.1160T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757527"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1247,
          "referenceAllele": "T",
          "start": 1246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000649178.1:c.1238T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498186.1:p.Leu413Pro",
        "hgvsWellDefined": "ENSP00000498186.1:p.Leu413Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770391"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1215,
          "referenceAllele": "T",
          "start": 1214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000674127.1:c.1215T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501044.1:n.1215T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774146"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1419,
          "referenceAllele": "T",
          "start": 1418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000674142.1:n.1419T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774159"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 917,
          "referenceAllele": "T",
          "start": 916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000675592.1:c.917T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502239.1:p.Leu306Pro",
        "hgvsWellDefined": "ENSP00000502239.1:p.Leu306Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775388"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1299,
          "referenceAllele": "T",
          "start": 1298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000675799.1:c.*640T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502661.1:n.*640T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775570"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3986,
          "referenceAllele": "T",
          "start": 3985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000675968.1:n.3986T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775716"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1079,
          "referenceAllele": "T",
          "start": 1078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000676156.1:c.1079T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501730.1:p.Leu360Pro",
        "hgvsWellDefined": "ENSP00000501730.1:p.Leu360Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775877"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1181,
          "referenceAllele": "T",
          "start": 1180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000676372.1:c.1181T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502805.1:n.1181T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776062"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1137,
          "referenceAllele": "T",
          "start": 1136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000218516.3:c.1115T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000218516.3:p.Leu372Pro",
        "hgvsWellDefined": "ENSP00000218516.3:p.Leu372Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247314"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 332,
          "endIntronDirection": "+",
          "endIntronOffset": 2527,
          "referenceAllele": "A",
          "start": 332,
          "startIntronDirection": "+",
          "startIntronOffset": 2526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048349",
      "geneNCBI_id": 100529097,
      "geneSymbol": "RPL36A-HNRNPH2",
      "hgvs": [
        "ENST00000409170.3:c.300+2527A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386655.4:n.300+2527A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247292"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 210,
          "endIntronDirection": "+",
          "endIntronOffset": 6162,
          "referenceAllele": "A",
          "start": 210,
          "startIntronDirection": "+",
          "startIntronOffset": 6161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048349",
      "geneNCBI_id": 100529097,
      "geneSymbol": "RPL36A-HNRNPH2",
      "hgvs": [
        "ENST00000409338.5:c.177+6162A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386974.2:n.177+6162A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247190"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 441,
          "referenceAllele": "T",
          "start": 440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000466414.1:n.441T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309790"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1177,
          "referenceAllele": "T",
          "start": 1176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000493905.6:c.*503T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000476935.1:n.*503T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS330958"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499229246",
      "coordinates": [
        {
          "allele": "C",
          "end": 1225,
          "referenceAllele": "T",
          "start": 1224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "NM_000169.2:c.1115T>C",
        "LRG_672t1:c.1115T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000160.1:p.Leu372Pro",
        "hgvsWellDefined": "NP_000160.1:p.Leu372Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006231"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 454,
          "endIntronDirection": "+",
          "endIntronOffset": 2527,
          "referenceAllele": "A",
          "start": 454,
          "startIntronDirection": "+",
          "startIntronOffset": 2526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048349",
      "geneNCBI_id": 100529097,
      "geneSymbol": "RPL36A-HNRNPH2",
      "hgvs": [
        "NM_001199973.1:c.408+2527A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186902.1:n.408+2527A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017283"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 331,
          "endIntronDirection": "+",
          "endIntronOffset": 6162,
          "referenceAllele": "A",
          "start": 331,
          "startIntronDirection": "+",
          "startIntronOffset": 6161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048349",
      "geneNCBI_id": 100529097,
      "geneSymbol": "RPL36A-HNRNPH2",
      "hgvs": [
        "NM_001199974.1:c.285+6162A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186903.1:n.285+6162A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017284"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1200,
          "referenceAllele": "T",
          "start": 1199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "XR_938397.1:n.1200T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133095"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1221,
          "referenceAllele": "T",
          "start": 1220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "XR_938397.2:n.1221T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS611908"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 333,
          "endIntronDirection": "+",
          "endIntronOffset": 2527,
          "referenceAllele": "A",
          "start": 333,
          "startIntronDirection": "+",
          "startIntronOffset": 2526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048349",
      "geneNCBI_id": 100529097,
      "geneSymbol": "RPL36A-HNRNPH2",
      "hgvs": [
        "NM_001199973.2:c.300+2527A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186902.2:n.300+2527A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664003"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 210,
          "endIntronDirection": "+",
          "endIntronOffset": 6162,
          "referenceAllele": "A",
          "start": 210,
          "startIntronDirection": "+",
          "startIntronOffset": 6161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048349",
      "geneNCBI_id": 100529097,
      "geneSymbol": "RPL36A-HNRNPH2",
      "hgvs": [
        "NM_001199974.2:c.177+6162A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186903.2:n.177+6162A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664004"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499229246",
      "coordinates": [
        {
          "allele": "C",
          "end": 1137,
          "referenceAllele": "T",
          "start": 1136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "NM_000169.3:c.1115T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000160.1:p.Leu372Pro",
        "hgvsWellDefined": "NP_000160.1:p.Leu372Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674733",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000218516.4:c.1115T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000169.3:c.1115T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000218516.4:p.Leu372Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000160.1:p.Leu372Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1194,
          "referenceAllele": "T",
          "start": 1193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "NR_164783.1:n.1194T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705867"
    }
  ],
  "type": "nucleotide"
}