{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2466723478",
  "communityStandardTitle": [
    "NM_001360016.2(G6PD):c.1082C= (p.Ala361=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/137852345",
        "rs": 137852345
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 154532772,
          "referenceAllele": "G",
          "start": 154532771
        }
      ],
      "hgvs": [
        "NC_000023.11:g.154532772G=",
        "CM000685.2:g.154532772G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 153760987,
          "referenceAllele": "G",
          "start": 153760986
        }
      ],
      "hgvs": [
        "NC_000023.10:g.153760987G=",
        "CM000685.1:g.153760987G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 153414181,
          "referenceAllele": "G",
          "start": 153414180
        }
      ],
      "hgvs": [
        "NC_000023.9:g.153414181G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 19801,
          "referenceAllele": "C",
          "start": 19800
        }
      ],
      "hgvs": [
        "NG_009015.2:g.19801C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001380"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1195,
          "referenceAllele": "C",
          "start": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000393564.7:c.1082C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377194.2:p.Ala361="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904600"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1260,
          "referenceAllele": "C",
          "start": 1259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000439227.6:c.1085C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395599.2:p.Ala362="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904902"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1148,
          "referenceAllele": "C",
          "start": 1147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000696420.1:c.1082C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512615.1:p.Ala361="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907877"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1148,
          "referenceAllele": "C",
          "start": 1147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000696421.1:c.1082C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512616.1:p.Ala361="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907878"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 945,
          "referenceAllele": "C",
          "start": 944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000696422.1:c.945C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907879"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 948,
          "referenceAllele": "C",
          "start": 947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000696423.1:c.948C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907880"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 934,
          "referenceAllele": "C",
          "start": 933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000696424.1:c.934C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512619.1:n.934C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907881"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 959,
          "referenceAllele": "C",
          "start": 958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000696425.1:c.895C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512620.1:p.Pro299="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907882"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1563,
          "referenceAllele": "C",
          "start": 1562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000696426.1:c.*542C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512621.1:n.*542C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907883"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1135,
          "referenceAllele": "C",
          "start": 1134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000696427.1:c.*42C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512622.1:n.*42C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907884"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1267,
          "referenceAllele": "C",
          "start": 1266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000696428.1:c.*924C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512623.1:n.*924C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907885"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1291,
          "referenceAllele": "C",
          "start": 1290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000696429.1:c.1082C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512624.1:p.Ala361="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907886"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1349,
          "referenceAllele": "C",
          "start": 1348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000696430.1:c.1082C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512625.1:p.Ala361="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907887"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1148,
          "referenceAllele": "C",
          "start": 1147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000393562.10:c.1082C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377192.3:p.Ala361="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753138",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393562.10:c.1082C="
          },
          "RefSeq": {
            "hgvs": "NM_001360016.2:c.1082C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377192.3:p.Ala361="
          },
          "RefSeq": {
            "hgvs": "NP_001346945.1:p.Ala361="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1333,
          "referenceAllele": "C",
          "start": 1332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000369620.6:c.1220C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358633.2:p.Ala407="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267612"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1556,
          "referenceAllele": "C",
          "start": 1555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000393562.6:c.1172C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377192.2:p.Ala391="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275692"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1195,
          "referenceAllele": "C",
          "start": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000393564.6:c.1082C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377194.2:p.Ala361="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275693"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 303,
          "referenceAllele": "C",
          "start": 302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000490651.1:n.303C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS328417"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1556,
          "referenceAllele": "C",
          "start": 1555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000621232.4:c.1082C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483686.1:p.Ala361="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405180"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063196392",
      "coordinates": [
        {
          "allele": "C",
          "end": 1320,
          "referenceAllele": "C",
          "start": 1319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "NM_000402.4:c.1172C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000393.4:p.Ala391="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006463"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1209,
          "referenceAllele": "C",
          "start": 1208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "NM_001042351.2:c.1082C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001035810.1:p.Ala361="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009645"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1318,
          "referenceAllele": "C",
          "start": 1317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "XM_005274657.2:c.1175C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005274714.1:p.Ala392="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068029"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1207,
          "referenceAllele": "C",
          "start": 1206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "XM_005274658.2:c.1085C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005274715.1:p.Ala362="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068030"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1131,
          "referenceAllele": "C",
          "start": 1130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "XM_011531132.1:c.988C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011529434.1:p.Pro330="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098173"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3249459237",
      "coordinates": [
        {
          "allele": "C",
          "end": 1148,
          "referenceAllele": "C",
          "start": 1147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "NM_001360016.2:c.1082C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001346945.1:p.Ala361="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522989",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393562.10:c.1082C="
          },
          "RefSeq": {
            "hgvs": "NM_001360016.2:c.1082C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377192.3:p.Ala361="
          },
          "RefSeq": {
            "hgvs": "NP_001346945.1:p.Ala361="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1192,
          "referenceAllele": "C",
          "start": 1191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "NM_001042351.3:c.1082C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001035810.1:p.Ala361="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676000"
    }
  ],
  "type": "nucleotide"
}