{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA031556",
  "communityStandardTitle": [
    "NM_000169.3(GLA):c.61C>T (p.Leu21Phe)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1318145[alleleid]",
        "alleleId": 1318145,
        "preferredName": "NM_000169.3(GLA):c.61C>T (p.Leu21Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1327540",
        "RCV": [
          "RCV001789803"
        ],
        "variationId": 1327540
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-100662831-G-A",
        "id": "X-100662831-G-A",
        "variant": "X:100662831 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.100662831G>A?assembly=hg19",
        "id": "chrX:g.100662831G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.101407843G>A?assembly=hg38",
        "id": "chrX:g.101407843G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/782164084",
        "rs": 782164084
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-100662831-G-A?dataset=gnomad_r2_1",
        "id": "X-100662831-G-A",
        "variant": "X:100662831 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-101407843-G-A?dataset=gnomad_r4",
        "id": "X-101407843-G-A",
        "variant": "X:101407843 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 101407843,
          "referenceAllele": "G",
          "start": 101407842
        }
      ],
      "hgvs": [
        "NC_000023.11:g.101407843G>A",
        "CM000685.2:g.101407843G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 100662831,
          "referenceAllele": "G",
          "start": 100662830
        }
      ],
      "hgvs": [
        "NC_000023.10:g.100662831G>A",
        "CM000685.1:g.100662831G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 100549487,
          "referenceAllele": "G",
          "start": 100549486
        }
      ],
      "hgvs": [
        "NC_000023.9:g.100549487G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5121,
          "referenceAllele": "C",
          "start": 5120
        }
      ],
      "hgvs": [
        "NG_007119.1:g.5121C>T",
        "LRG_672:g.5121C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000493"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4641,
          "referenceAllele": "G",
          "start": 4640
        }
      ],
      "hgvs": [
        "NG_016327.1:g.4641G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003097"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 83,
          "referenceAllele": "C",
          "start": 82
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000486121.7:c.61C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501124.2:p.Leu21Phe",
        "hgvsWellDefined": "ENSP00000501124.2:p.Leu21Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914147"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 83,
          "referenceAllele": "C",
          "start": 82
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000674127.2:c.61C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501044.2:p.Leu21Phe",
        "hgvsWellDefined": "ENSP00000501044.2:p.Leu21Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914452"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 83,
          "referenceAllele": "C",
          "start": 82
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000710365.1:c.61C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518234.1:p.Leu21Phe",
        "hgvsWellDefined": "ENSP00000518234.1:p.Leu21Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914527"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 83,
          "referenceAllele": "C",
          "start": 82
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000218516.4:c.61C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000218516.4:p.Leu21Phe",
        "hgvsWellDefined": "ENSP00000218516.4:p.Leu21Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740403",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000218516.4:c.61C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000169.3:c.61C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000218516.4:p.Leu21Phe"
          },
          "RefSeq": {
            "hgvs": "NP_000160.1:p.Leu21Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 122,
          "referenceAllele": "C",
          "start": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000468823.2:n.122C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS756949"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 59,
          "referenceAllele": "C",
          "start": 58
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000479445.2:n.59C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757304"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 170,
          "referenceAllele": "C",
          "start": 169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000480513.6:c.61C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497055.1:p.Leu21Phe",
        "hgvsWellDefined": "ENSP00000497055.1:p.Leu21Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757332"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 70,
          "referenceAllele": "C",
          "start": 69
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000649178.1:c.61C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498186.1:p.Leu21Phe",
        "hgvsWellDefined": "ENSP00000498186.1:p.Leu21Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770391"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 148,
          "referenceAllele": "C",
          "start": 147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000674142.1:n.148C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774159"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 61,
          "referenceAllele": "C",
          "start": 60
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000674634.2:c.61C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502629.2:p.Leu21Phe",
        "hgvsWellDefined": "ENSP00000502629.2:p.Leu21Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774573"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 61,
          "referenceAllele": "C",
          "start": 60
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000675592.1:c.61C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502239.1:p.Leu21Phe",
        "hgvsWellDefined": "ENSP00000502239.1:p.Leu21Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775388"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 120,
          "referenceAllele": "C",
          "start": 119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000675799.1:c.61C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502661.1:p.Leu21Phe",
        "hgvsWellDefined": "ENSP00000502661.1:p.Leu21Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775570"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 122,
          "referenceAllele": "C",
          "start": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000675968.1:n.122C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775716"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 61,
          "referenceAllele": "C",
          "start": 60
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000676156.1:c.61C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501730.1:p.Leu21Phe",
        "hgvsWellDefined": "ENSP00000501730.1:p.Leu21Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775877"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 61,
          "referenceAllele": "C",
          "start": 60
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000676372.1:c.61C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502805.1:p.Leu21Phe",
        "hgvsWellDefined": "ENSP00000502805.1:p.Leu21Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776062"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 83,
          "referenceAllele": "C",
          "start": 82
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000218516.3:c.61C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000218516.3:p.Leu21Phe",
        "hgvsWellDefined": "ENSP00000218516.3:p.Leu21Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247314"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 332,
          "endIntronDirection": "-",
          "endIntronOffset": 4092,
          "referenceAllele": "G",
          "start": 332,
          "startIntronDirection": "-",
          "startIntronOffset": 4093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048349",
      "geneNCBI_id": 100529097,
      "geneSymbol": "RPL36A-HNRNPH2",
      "hgvs": [
        "ENST00000409170.3:c.301-4093G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386655.4:n.301-4093G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247292"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 210,
          "endIntronDirection": "-",
          "endIntronOffset": 4092,
          "referenceAllele": "G",
          "start": 210,
          "startIntronDirection": "-",
          "startIntronOffset": 4093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048349",
      "geneNCBI_id": 100529097,
      "geneSymbol": "RPL36A-HNRNPH2",
      "hgvs": [
        "ENST00000409338.5:c.178-4093G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386974.2:n.178-4093G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247190"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 45,
          "referenceAllele": "C",
          "start": 44
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000479445.1:n.45C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319822"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 66,
          "referenceAllele": "C",
          "start": 65
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000493905.6:c.61C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000476935.1:p.Leu21Phe",
        "hgvsWellDefined": "ENSP00000476935.1:p.Leu21Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS330958"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573061648",
      "coordinates": [
        {
          "allele": "T",
          "end": 171,
          "referenceAllele": "C",
          "start": 170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "NM_000169.2:c.61C>T",
        "LRG_672t1:c.61C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000160.1:p.Leu21Phe",
        "hgvsWellDefined": "NP_000160.1:p.Leu21Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006231"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 454,
          "endIntronDirection": "-",
          "endIntronOffset": 4092,
          "referenceAllele": "G",
          "start": 454,
          "startIntronDirection": "-",
          "startIntronOffset": 4093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048349",
      "geneNCBI_id": 100529097,
      "geneSymbol": "RPL36A-HNRNPH2",
      "hgvs": [
        "NM_001199973.1:c.409-4093G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186902.1:n.409-4093G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017283"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 331,
          "endIntronDirection": "-",
          "endIntronOffset": 4092,
          "referenceAllele": "G",
          "start": 331,
          "startIntronDirection": "-",
          "startIntronOffset": 4093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048349",
      "geneNCBI_id": 100529097,
      "geneSymbol": "RPL36A-HNRNPH2",
      "hgvs": [
        "NM_001199974.1:c.286-4093G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186903.1:n.286-4093G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017284"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 89,
          "referenceAllele": "C",
          "start": 88
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "XR_938397.1:n.89C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133095"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 110,
          "referenceAllele": "C",
          "start": 109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "XR_938397.2:n.110C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS611908"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 333,
          "endIntronDirection": "-",
          "endIntronOffset": 4092,
          "referenceAllele": "G",
          "start": 333,
          "startIntronDirection": "-",
          "startIntronOffset": 4093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048349",
      "geneNCBI_id": 100529097,
      "geneSymbol": "RPL36A-HNRNPH2",
      "hgvs": [
        "NM_001199973.2:c.301-4093G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186902.2:n.301-4093G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 210,
          "endIntronDirection": "-",
          "endIntronOffset": 4092,
          "referenceAllele": "G",
          "start": 210,
          "startIntronDirection": "-",
          "startIntronOffset": 4093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048349",
      "geneNCBI_id": 100529097,
      "geneSymbol": "RPL36A-HNRNPH2",
      "hgvs": [
        "NM_001199974.2:c.178-4093G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186903.2:n.178-4093G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664004"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573061648",
      "coordinates": [
        {
          "allele": "T",
          "end": 83,
          "referenceAllele": "C",
          "start": 82
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "NM_000169.3:c.61C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000160.1:p.Leu21Phe",
        "hgvsWellDefined": "NP_000160.1:p.Leu21Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674733",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000218516.4:c.61C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000169.3:c.61C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000218516.4:p.Leu21Phe"
          },
          "RefSeq": {
            "hgvs": "NP_000160.1:p.Leu21Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 83,
          "referenceAllele": "C",
          "start": 82
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "NR_164783.1:n.83C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705867"
    }
  ],
  "type": "nucleotide"
}