{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA413922571",
  "communityStandardTitle": [
    "NM_000169.3(GLA):c.878C>T (p.Pro293Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1065691[alleleid]",
        "alleleId": 1065691,
        "preferredName": "NM_000169.3(GLA):c.878C>T (p.Pro293Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1077018",
        "RCV": [
          "RCV001391121"
        ],
        "variationId": 1077018
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.100653479G>A?assembly=hg19",
        "id": "chrX:g.100653479G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.101398491G>A?assembly=hg38",
        "id": "chrX:g.101398491G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/869312441",
        "rs": 869312441
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 101398491,
          "referenceAllele": "G",
          "start": 101398490
        }
      ],
      "hgvs": [
        "NC_000023.11:g.101398491G>A",
        "CM000685.2:g.101398491G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 100653479,
          "referenceAllele": "G",
          "start": 100653478
        }
      ],
      "hgvs": [
        "NC_000023.10:g.100653479G>A",
        "CM000685.1:g.100653479G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 100540135,
          "referenceAllele": "G",
          "start": 100540134
        }
      ],
      "hgvs": [
        "NC_000023.9:g.100540135G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14473,
          "referenceAllele": "C",
          "start": 14472
        }
      ],
      "hgvs": [
        "NG_007119.1:g.14473C>T",
        "LRG_672:g.14473C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000493"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1015,
          "referenceAllele": "C",
          "start": 1014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000486121.7:c.*324C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501124.2:n.*324C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914147"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1072,
          "referenceAllele": "C",
          "start": 1071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000674127.2:c.*381C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501044.2:n.*381C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914452"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 975,
          "referenceAllele": "C",
          "start": 974
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000710365.1:c.953C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518234.1:p.Pro318Leu",
        "hgvsWellDefined": "ENSP00000518234.1:p.Pro318Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914527"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 900,
          "referenceAllele": "C",
          "start": 899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000218516.4:c.878C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000218516.4:p.Pro293Leu",
        "hgvsWellDefined": "ENSP00000218516.4:p.Pro293Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740403",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000218516.4:c.878C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000169.3:c.878C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000218516.4:p.Pro293Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000160.1:p.Pro293Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1014,
          "referenceAllele": "C",
          "start": 1013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000466414.2:n.1014C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS756873"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2030,
          "referenceAllele": "C",
          "start": 2029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000468823.2:n.2030C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS756949"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1492,
          "referenceAllele": "C",
          "start": 1491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000479445.2:n.1492C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757304"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 895,
          "referenceAllele": "C",
          "start": 894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000480513.6:c.*186C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497055.1:n.*186C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757332"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 923,
          "referenceAllele": "C",
          "start": 922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000486121.6:c.923C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757527"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1010,
          "referenceAllele": "C",
          "start": 1009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000649178.1:c.1001C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498186.1:p.Pro334Leu",
        "hgvsWellDefined": "ENSP00000498186.1:p.Pro334Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770391"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 978,
          "referenceAllele": "C",
          "start": 977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000674127.1:c.978C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501044.1:n.978C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774146"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1182,
          "referenceAllele": "C",
          "start": 1181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000674142.1:n.1182C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774159"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 878,
          "referenceAllele": "C",
          "start": 877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000674634.2:c.878C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502629.2:p.Pro293Leu",
        "hgvsWellDefined": "ENSP00000502629.2:p.Pro293Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774573"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 801,
          "endIntronDirection": "+",
          "endIntronOffset": 294,
          "referenceAllele": "C",
          "start": 801,
          "startIntronDirection": "+",
          "startIntronOffset": 293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000675592.1:c.801+294C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502239.1:n.801+294C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775388"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1062,
          "referenceAllele": "C",
          "start": 1061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000675799.1:c.*403C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502661.1:n.*403C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775570"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3749,
          "referenceAllele": "C",
          "start": 3748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000675968.1:n.3749C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775716"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 842,
          "referenceAllele": "C",
          "start": 841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000676156.1:c.842C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501730.1:p.Pro281Leu",
        "hgvsWellDefined": "ENSP00000501730.1:p.Pro281Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775877"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 944,
          "referenceAllele": "C",
          "start": 943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000676372.1:c.944C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502805.1:n.944C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776062"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 900,
          "referenceAllele": "C",
          "start": 899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000218516.3:c.878C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000218516.3:p.Pro293Leu",
        "hgvsWellDefined": "ENSP00000218516.3:p.Pro293Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247314"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 332,
          "endIntronDirection": "+",
          "endIntronOffset": 3034,
          "referenceAllele": "G",
          "start": 332,
          "startIntronDirection": "+",
          "startIntronOffset": 3033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048349",
      "geneNCBI_id": 100529097,
      "geneSymbol": "RPL36A-HNRNPH2",
      "hgvs": [
        "ENST00000409170.3:c.300+3034G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386655.4:n.300+3034G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247292"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 210,
          "endIntronDirection": "+",
          "endIntronOffset": 6669,
          "referenceAllele": "G",
          "start": 210,
          "startIntronDirection": "+",
          "startIntronOffset": 6668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048349",
      "geneNCBI_id": 100529097,
      "geneSymbol": "RPL36A-HNRNPH2",
      "hgvs": [
        "ENST00000409338.5:c.177+6669G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386974.2:n.177+6669G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247190"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 204,
          "referenceAllele": "C",
          "start": 203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000466414.1:n.204C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309790"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 940,
          "referenceAllele": "C",
          "start": 939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000493905.6:c.*266C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000476935.1:n.*266C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS330958"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499229234",
      "coordinates": [
        {
          "allele": "T",
          "end": 988,
          "referenceAllele": "C",
          "start": 987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "NM_000169.2:c.878C>T",
        "LRG_672t1:c.878C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000160.1:p.Pro293Leu",
        "hgvsWellDefined": "NP_000160.1:p.Pro293Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006231"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 454,
          "endIntronDirection": "+",
          "endIntronOffset": 3034,
          "referenceAllele": "G",
          "start": 454,
          "startIntronDirection": "+",
          "startIntronOffset": 3033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048349",
      "geneNCBI_id": 100529097,
      "geneSymbol": "RPL36A-HNRNPH2",
      "hgvs": [
        "NM_001199973.1:c.408+3034G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186902.1:n.408+3034G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017283"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 331,
          "endIntronDirection": "+",
          "endIntronOffset": 6669,
          "referenceAllele": "G",
          "start": 331,
          "startIntronDirection": "+",
          "startIntronOffset": 6668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048349",
      "geneNCBI_id": 100529097,
      "geneSymbol": "RPL36A-HNRNPH2",
      "hgvs": [
        "NM_001199974.1:c.285+6669G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186903.1:n.285+6669G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017284"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 963,
          "referenceAllele": "C",
          "start": 962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "XR_938397.1:n.963C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133095"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 984,
          "referenceAllele": "C",
          "start": 983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "XR_938397.2:n.984C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS611908"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 333,
          "endIntronDirection": "+",
          "endIntronOffset": 3034,
          "referenceAllele": "G",
          "start": 333,
          "startIntronDirection": "+",
          "startIntronOffset": 3033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048349",
      "geneNCBI_id": 100529097,
      "geneSymbol": "RPL36A-HNRNPH2",
      "hgvs": [
        "NM_001199973.2:c.300+3034G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186902.2:n.300+3034G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 210,
          "endIntronDirection": "+",
          "endIntronOffset": 6669,
          "referenceAllele": "G",
          "start": 210,
          "startIntronDirection": "+",
          "startIntronOffset": 6668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048349",
      "geneNCBI_id": 100529097,
      "geneSymbol": "RPL36A-HNRNPH2",
      "hgvs": [
        "NM_001199974.2:c.177+6669G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186903.2:n.177+6669G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664004"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499229234",
      "coordinates": [
        {
          "allele": "T",
          "end": 900,
          "referenceAllele": "C",
          "start": 899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "NM_000169.3:c.878C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000160.1:p.Pro293Leu",
        "hgvsWellDefined": "NP_000160.1:p.Pro293Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674733",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000218516.4:c.878C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000169.3:c.878C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000218516.4:p.Pro293Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000160.1:p.Pro293Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 957,
          "referenceAllele": "C",
          "start": 956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "NR_164783.1:n.957C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705867"
    }
  ],
  "type": "nucleotide"
}