{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA022231",
  "communityStandardTitle": [
    "NM_000169.3(GLA):c.973G>A (p.Gly325Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=98481[alleleid]",
        "alleleId": 98481,
        "preferredName": "NM_000169.3(GLA):c.973G>A (p.Gly325Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/92573",
        "RCV": [
          "RCV000078305",
          "RCV001337760"
        ],
        "variationId": 92573
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.100653384C>T?assembly=hg19",
        "id": "chrX:g.100653384C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.101398396C>T?assembly=hg38",
        "id": "chrX:g.101398396C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/398123227",
        "rs": 398123227
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 101398396,
          "referenceAllele": "C",
          "start": 101398395
        }
      ],
      "hgvs": [
        "NC_000023.11:g.101398396C>T",
        "CM000685.2:g.101398396C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 100653384,
          "referenceAllele": "C",
          "start": 100653383
        }
      ],
      "hgvs": [
        "NC_000023.10:g.100653384C>T",
        "CM000685.1:g.100653384C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 100540040,
          "referenceAllele": "C",
          "start": 100540039
        }
      ],
      "hgvs": [
        "NC_000023.9:g.100540040C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14568,
          "referenceAllele": "G",
          "start": 14567
        }
      ],
      "hgvs": [
        "NG_007119.1:g.14568G>A",
        "LRG_672:g.14568G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000493"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1110,
          "referenceAllele": "G",
          "start": 1109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000486121.7:c.*419G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501124.2:n.*419G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914147"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1167,
          "referenceAllele": "G",
          "start": 1166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000674127.2:c.*476G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501044.2:n.*476G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914452"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1070,
          "referenceAllele": "G",
          "start": 1069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000710365.1:c.1048G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518234.1:p.Gly350Ser",
        "hgvsWellDefined": "ENSP00000518234.1:p.Gly350Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914527"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 995,
          "referenceAllele": "G",
          "start": 994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000218516.4:c.973G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000218516.4:p.Gly325Ser",
        "hgvsWellDefined": "ENSP00000218516.4:p.Gly325Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740403",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000218516.4:c.973G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000169.3:c.973G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000218516.4:p.Gly325Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000160.1:p.Gly325Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1109,
          "referenceAllele": "G",
          "start": 1108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000466414.2:n.1109G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS756873"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2125,
          "referenceAllele": "G",
          "start": 2124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000468823.2:n.2125G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS756949"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1587,
          "referenceAllele": "G",
          "start": 1586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000479445.2:n.1587G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757304"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 990,
          "referenceAllele": "G",
          "start": 989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000480513.6:c.*281G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497055.1:n.*281G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757332"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1018,
          "referenceAllele": "G",
          "start": 1017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000486121.6:c.1018G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757527"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1105,
          "referenceAllele": "G",
          "start": 1104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000649178.1:c.1096G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498186.1:p.Gly366Ser",
        "hgvsWellDefined": "ENSP00000498186.1:p.Gly366Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770391"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1073,
          "referenceAllele": "G",
          "start": 1072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000674127.1:c.1073G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501044.1:n.1073G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774146"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1277,
          "referenceAllele": "G",
          "start": 1276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000674142.1:n.1277G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774159"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 973,
          "referenceAllele": "G",
          "start": 972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000674634.2:c.973G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502629.2:p.Gly325Ser",
        "hgvsWellDefined": "ENSP00000502629.2:p.Gly325Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774573"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 801,
          "endIntronDirection": "-",
          "endIntronOffset": 296,
          "referenceAllele": "G",
          "start": 801,
          "startIntronDirection": "-",
          "startIntronOffset": 297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000675592.1:c.802-297G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502239.1:n.802-297G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775388"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1157,
          "referenceAllele": "G",
          "start": 1156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000675799.1:c.*498G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502661.1:n.*498G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775570"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3844,
          "referenceAllele": "G",
          "start": 3843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000675968.1:n.3844G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775716"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 937,
          "referenceAllele": "G",
          "start": 936
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000676156.1:c.937G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501730.1:p.Gly313Ser",
        "hgvsWellDefined": "ENSP00000501730.1:p.Gly313Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775877"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1039,
          "referenceAllele": "G",
          "start": 1038
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000676372.1:c.1039G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502805.1:n.1039G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776062"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 995,
          "referenceAllele": "G",
          "start": 994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000218516.3:c.973G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000218516.3:p.Gly325Ser",
        "hgvsWellDefined": "ENSP00000218516.3:p.Gly325Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247314"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 332,
          "endIntronDirection": "+",
          "endIntronOffset": 2939,
          "referenceAllele": "C",
          "start": 332,
          "startIntronDirection": "+",
          "startIntronOffset": 2938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048349",
      "geneNCBI_id": 100529097,
      "geneSymbol": "RPL36A-HNRNPH2",
      "hgvs": [
        "ENST00000409170.3:c.300+2939C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386655.4:n.300+2939C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247292"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 210,
          "endIntronDirection": "+",
          "endIntronOffset": 6574,
          "referenceAllele": "C",
          "start": 210,
          "startIntronDirection": "+",
          "startIntronOffset": 6573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048349",
      "geneNCBI_id": 100529097,
      "geneSymbol": "RPL36A-HNRNPH2",
      "hgvs": [
        "ENST00000409338.5:c.177+6574C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386974.2:n.177+6574C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247190"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 299,
          "referenceAllele": "G",
          "start": 298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000466414.1:n.299G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309790"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1035,
          "referenceAllele": "G",
          "start": 1034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "ENST00000493905.6:c.*361G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000476935.1:n.*361G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS330958"
    },
    {
      "@id": "http://reg.genome.network/allele/PA266807",
      "coordinates": [
        {
          "allele": "A",
          "end": 1083,
          "referenceAllele": "G",
          "start": 1082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "NM_000169.2:c.973G>A",
        "LRG_672t1:c.973G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000160.1:p.Gly325Ser",
        "hgvsWellDefined": "NP_000160.1:p.Gly325Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006231"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 454,
          "endIntronDirection": "+",
          "endIntronOffset": 2939,
          "referenceAllele": "C",
          "start": 454,
          "startIntronDirection": "+",
          "startIntronOffset": 2938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048349",
      "geneNCBI_id": 100529097,
      "geneSymbol": "RPL36A-HNRNPH2",
      "hgvs": [
        "NM_001199973.1:c.408+2939C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186902.1:n.408+2939C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017283"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 331,
          "endIntronDirection": "+",
          "endIntronOffset": 6574,
          "referenceAllele": "C",
          "start": 331,
          "startIntronDirection": "+",
          "startIntronOffset": 6573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048349",
      "geneNCBI_id": 100529097,
      "geneSymbol": "RPL36A-HNRNPH2",
      "hgvs": [
        "NM_001199974.1:c.285+6574C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186903.1:n.285+6574C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017284"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1058,
          "referenceAllele": "G",
          "start": 1057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "XR_938397.1:n.1058G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133095"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1079,
          "referenceAllele": "G",
          "start": 1078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "XR_938397.2:n.1079G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS611908"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 333,
          "endIntronDirection": "+",
          "endIntronOffset": 2939,
          "referenceAllele": "C",
          "start": 333,
          "startIntronDirection": "+",
          "startIntronOffset": 2938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048349",
      "geneNCBI_id": 100529097,
      "geneSymbol": "RPL36A-HNRNPH2",
      "hgvs": [
        "NM_001199973.2:c.300+2939C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186902.2:n.300+2939C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 210,
          "endIntronDirection": "+",
          "endIntronOffset": 6574,
          "referenceAllele": "C",
          "start": 210,
          "startIntronDirection": "+",
          "startIntronOffset": 6573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048349",
      "geneNCBI_id": 100529097,
      "geneSymbol": "RPL36A-HNRNPH2",
      "hgvs": [
        "NM_001199974.2:c.177+6574C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186903.2:n.177+6574C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664004"
    },
    {
      "@id": "http://reg.genome.network/allele/PA266807",
      "coordinates": [
        {
          "allele": "A",
          "end": 995,
          "referenceAllele": "G",
          "start": 994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "NM_000169.3:c.973G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000160.1:p.Gly325Ser",
        "hgvsWellDefined": "NP_000160.1:p.Gly325Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674733",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000218516.4:c.973G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000169.3:c.973G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000218516.4:p.Gly325Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000160.1:p.Gly325Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1052,
          "referenceAllele": "G",
          "start": 1051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "NR_164783.1:n.1052G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705867"
    }
  ],
  "type": "nucleotide"
}