{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16608664",
  "communityStandardTitle": [
    "NM_000169.3(GLA):c.-13G>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=378802[alleleid]",
        "alleleId": 378802,
        "preferredName": "NM_000169.3(GLA):c.-13G>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/379148",
        "RCV": [
          "RCV000429166",
          "RCV001187598"
        ],
        "variationId": 379148
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.100662904C>G?assembly=hg19",
        "id": "chrX:g.100662904C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.101407916C>G?assembly=hg38",
        "id": "chrX:g.101407916C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/782051708",
        "rs": 782051708
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-100662904-C-G?dataset=gnomad_r2_1",
        "id": "X-100662904-C-G",
        "variant": "X:100662904 C / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-101407916-C-G?dataset=gnomad_r3",
        "id": "X-101407916-C-G",
        "variant": "X:101407916 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-101407916-C-G?dataset=gnomad_r4",
        "id": "X-101407916-C-G",
        "variant": "X:101407916 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 101407916,
          "referenceAllele": "C",
          "start": 101407915
        }
      ],
      "hgvs": [
        "NC_000023.11:g.101407916C>G",
        "CM000685.2:g.101407916C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 100662904,
          "referenceAllele": "C",
          "start": 100662903
        }
      ],
      "hgvs": [
        "NC_000023.10:g.100662904C>G",
        "CM000685.1:g.100662904C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 100549560,
          "referenceAllele": "C",
          "start": 100549559
        }
      ],
      "hgvs": [
        "NC_000023.9:g.100549560C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5048,
          "referenceAllele": "G",
          "start": 5047
        }
      ],
      "hgvs": [
        "NG_007119.1:g.5048G>C",
        "LRG_672:g.5048G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000493"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4714,
          "referenceAllele": "C",
          "start": 4713
        }
      ],
      "hgvs": [
        "NG_016327.1:g.4714C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003097"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 10,
          "referenceAllele": "G",
          "start": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000486121.7:c.-13G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501124.2:n.-13G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914147"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 10,
          "referenceAllele": "G",
          "start": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000674127.2:c.-13G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501044.2:n.-13G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914452"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 10,
          "referenceAllele": "G",
          "start": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000710365.1:c.-13G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518234.1:n.-13G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914527"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 10,
          "referenceAllele": "G",
          "start": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000218516.4:c.-13G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000218516.4:n.-13G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740403",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000218516.4:c.-13G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000169.3:c.-13G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000218516.4:n.-13G>C"
          },
          "RefSeq": {
            "hgvs": "NP_000160.1:n.-13G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 49,
          "referenceAllele": "G",
          "start": 48
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000468823.2:n.49G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS756949"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 97,
          "referenceAllele": "G",
          "start": 96
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000480513.6:c.-13G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497055.1:n.-13G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757332"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 75,
          "referenceAllele": "G",
          "start": 74
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000674142.1:n.75G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774159"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 47,
          "referenceAllele": "G",
          "start": 46
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000675799.1:c.-13G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502661.1:n.-13G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775570"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 49,
          "referenceAllele": "G",
          "start": 48
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000675968.1:n.49G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775716"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 10,
          "referenceAllele": "G",
          "start": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000218516.3:c.-13G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000218516.3:n.-13G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247314"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 332,
          "endIntronDirection": "-",
          "endIntronOffset": 4019,
          "referenceAllele": "C",
          "start": 332,
          "startIntronDirection": "-",
          "startIntronOffset": 4020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048349",
      "geneNCBI_id": 100529097,
      "geneSymbol": "RPL36A-HNRNPH2",
      "hgvs": [
        "ENST00000409170.3:c.301-4020C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386655.4:n.301-4020C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247292"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 210,
          "endIntronDirection": "-",
          "endIntronOffset": 4019,
          "referenceAllele": "C",
          "start": 210,
          "startIntronDirection": "-",
          "startIntronOffset": 4020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048349",
      "geneNCBI_id": 100529097,
      "geneSymbol": "RPL36A-HNRNPH2",
      "hgvs": [
        "ENST00000409338.5:c.178-4020C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386974.2:n.178-4020C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247190"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 98,
          "referenceAllele": "G",
          "start": 97
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "NM_000169.2:c.-13G>C",
        "LRG_672t1:c.-13G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000160.1:n.-13G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006231"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 454,
          "endIntronDirection": "-",
          "endIntronOffset": 4019,
          "referenceAllele": "C",
          "start": 454,
          "startIntronDirection": "-",
          "startIntronOffset": 4020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048349",
      "geneNCBI_id": 100529097,
      "geneSymbol": "RPL36A-HNRNPH2",
      "hgvs": [
        "NM_001199973.1:c.409-4020C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186902.1:n.409-4020C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017283"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 331,
          "endIntronDirection": "-",
          "endIntronOffset": 4019,
          "referenceAllele": "C",
          "start": 331,
          "startIntronDirection": "-",
          "startIntronOffset": 4020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048349",
      "geneNCBI_id": 100529097,
      "geneSymbol": "RPL36A-HNRNPH2",
      "hgvs": [
        "NM_001199974.1:c.286-4020C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186903.1:n.286-4020C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017284"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 16,
          "referenceAllele": "G",
          "start": 15
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "XR_938397.1:n.16G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133095"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 37,
          "referenceAllele": "G",
          "start": 36
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "XR_938397.2:n.37G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS611908"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 333,
          "endIntronDirection": "-",
          "endIntronOffset": 4019,
          "referenceAllele": "C",
          "start": 333,
          "startIntronDirection": "-",
          "startIntronOffset": 4020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048349",
      "geneNCBI_id": 100529097,
      "geneSymbol": "RPL36A-HNRNPH2",
      "hgvs": [
        "NM_001199973.2:c.301-4020C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186902.2:n.301-4020C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664003"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 210,
          "endIntronDirection": "-",
          "endIntronOffset": 4019,
          "referenceAllele": "C",
          "start": 210,
          "startIntronDirection": "-",
          "startIntronOffset": 4020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048349",
      "geneNCBI_id": 100529097,
      "geneSymbol": "RPL36A-HNRNPH2",
      "hgvs": [
        "NM_001199974.2:c.178-4020C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186903.2:n.178-4020C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664004"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 10,
          "referenceAllele": "G",
          "start": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "NM_000169.3:c.-13G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000160.1:n.-13G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674733",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000218516.4:c.-13G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000169.3:c.-13G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000218516.4:n.-13G>C"
          },
          "RefSeq": {
            "hgvs": "NP_000160.1:n.-13G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 10,
          "referenceAllele": "G",
          "start": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "NR_164783.1:n.10G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705867"
    }
  ],
  "type": "nucleotide"
}