{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA415238638",
  "communityStandardTitle": [
    "NM_001360016.2(G6PD):c.383T>G (p.Leu128Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=959209[alleleid]",
        "alleleId": 959209,
        "preferredName": "NM_001360016.2(G6PD):c.383T>G (p.Leu128Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/968939",
        "RCV": [
          "RCV001244181",
          "RCV003222271",
          "RCV003462821"
        ],
        "variationId": 968939
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.153763485A>C?assembly=hg19",
        "id": "chrX:g.153763485A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.154535270A>C?assembly=hg38",
        "id": "chrX:g.154535270A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/78365220",
        "rs": 78365220
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-153763485-A-C?dataset=gnomad_r2_1",
        "id": "X-153763485-A-C",
        "variant": "X:153763485 A / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-154535270-A-C?dataset=gnomad_r4",
        "id": "X-154535270-A-C",
        "variant": "X:154535270 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 154535270,
          "referenceAllele": "A",
          "start": 154535269
        }
      ],
      "hgvs": [
        "NC_000023.11:g.154535270A>C",
        "CM000685.2:g.154535270A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 153763485,
          "referenceAllele": "A",
          "start": 153763484
        }
      ],
      "hgvs": [
        "NC_000023.10:g.153763485A>C",
        "CM000685.1:g.153763485A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 153416679,
          "referenceAllele": "A",
          "start": 153416678
        }
      ],
      "hgvs": [
        "NC_000023.9:g.153416679A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 17303,
          "referenceAllele": "T",
          "start": 17302
        }
      ],
      "hgvs": [
        "NG_009015.2:g.17303T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001380"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 496,
          "referenceAllele": "T",
          "start": 495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000393564.7:c.383T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377194.2:p.Leu128Arg",
        "hgvsWellDefined": "ENSP00000377194.2:p.Leu128Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904600"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 558,
          "referenceAllele": "T",
          "start": 557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000439227.6:c.383T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395599.2:p.Leu128Arg",
        "hgvsWellDefined": "ENSP00000395599.2:p.Leu128Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904902"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 449,
          "referenceAllele": "T",
          "start": 448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000696420.1:c.383T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512615.1:p.Leu128Arg",
        "hgvsWellDefined": "ENSP00000512615.1:p.Leu128Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907877"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 449,
          "referenceAllele": "T",
          "start": 448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000696421.1:c.383T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512616.1:p.Leu128Arg",
        "hgvsWellDefined": "ENSP00000512616.1:p.Leu128Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907878"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 246,
          "referenceAllele": "T",
          "start": 245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000696422.1:c.246T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907879"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 246,
          "referenceAllele": "T",
          "start": 245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000696423.1:c.246T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907880"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 263,
          "referenceAllele": "T",
          "start": 262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000696424.1:c.263T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512619.1:p.Leu88Arg",
        "hgvsWellDefined": "ENSP00000512619.1:p.Leu88Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907881"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 447,
          "referenceAllele": "T",
          "start": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000696425.1:c.383T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512620.1:p.Leu128Arg",
        "hgvsWellDefined": "ENSP00000512620.1:p.Leu128Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907882"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 501,
          "referenceAllele": "T",
          "start": 500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000696426.1:c.383T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512621.1:p.Leu128Arg",
        "hgvsWellDefined": "ENSP00000512621.1:p.Leu128Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907883"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 429,
          "referenceAllele": "T",
          "start": 428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000696427.1:c.383T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512622.1:p.Leu128Arg",
        "hgvsWellDefined": "ENSP00000512622.1:p.Leu128Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907884"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 568,
          "referenceAllele": "T",
          "start": 567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000696428.1:c.*225T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512623.1:n.*225T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907885"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 592,
          "referenceAllele": "T",
          "start": 591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000696429.1:c.383T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512624.1:p.Leu128Arg",
        "hgvsWellDefined": "ENSP00000512624.1:p.Leu128Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907886"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 650,
          "referenceAllele": "T",
          "start": 649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000696430.1:c.383T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512625.1:p.Leu128Arg",
        "hgvsWellDefined": "ENSP00000512625.1:p.Leu128Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907887"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 456,
          "referenceAllele": "T",
          "start": 455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000696431.1:c.383T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512626.1:p.Leu128Arg",
        "hgvsWellDefined": "ENSP00000512626.1:p.Leu128Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907888"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 449,
          "referenceAllele": "T",
          "start": 448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000393562.10:c.383T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377192.3:p.Leu128Arg",
        "hgvsWellDefined": "ENSP00000377192.3:p.Leu128Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753138",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393562.10:c.383T>G"
          },
          "RefSeq": {
            "hgvs": "NM_001360016.2:c.383T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377192.3:p.Leu128Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001346945.1:p.Leu128Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 496,
          "referenceAllele": "T",
          "start": 495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000369620.6:c.383T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358633.2:p.Leu128Arg",
        "hgvsWellDefined": "ENSP00000358633.2:p.Leu128Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267612"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 857,
          "referenceAllele": "T",
          "start": 856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000393562.6:c.473T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377192.2:p.Leu158Arg",
        "hgvsWellDefined": "ENSP00000377192.2:p.Leu158Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275692"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 496,
          "referenceAllele": "T",
          "start": 495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000393564.6:c.383T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377194.2:p.Leu128Arg",
        "hgvsWellDefined": "ENSP00000377194.2:p.Leu128Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275693"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 431,
          "referenceAllele": "T",
          "start": 430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000433845.1:c.383T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394690.1:p.Leu128Arg",
        "hgvsWellDefined": "ENSP00000394690.1:p.Leu128Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292741"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 441,
          "referenceAllele": "T",
          "start": 440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000439227.5:c.383T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395599.1:p.Leu128Arg",
        "hgvsWellDefined": "ENSP00000395599.1:p.Leu128Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295324"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 477,
          "referenceAllele": "T",
          "start": 476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000440967.5:c.383T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400648.1:p.Leu128Arg",
        "hgvsWellDefined": "ENSP00000400648.1:p.Leu128Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296156"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 337,
          "referenceAllele": "T",
          "start": 336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000497281.5:n.337T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS333548"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 857,
          "referenceAllele": "T",
          "start": 856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000621232.4:c.383T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483686.1:p.Leu128Arg",
        "hgvsWellDefined": "ENSP00000483686.1:p.Leu128Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405180"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139687437",
      "coordinates": [
        {
          "allele": "G",
          "end": 621,
          "referenceAllele": "T",
          "start": 620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "NM_000402.4:c.473T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000393.4:p.Leu158Arg",
        "hgvsWellDefined": "NP_000393.4:p.Leu158Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006463"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825396133",
      "coordinates": [
        {
          "allele": "G",
          "end": 510,
          "referenceAllele": "T",
          "start": 509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "NM_001042351.2:c.383T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035810.1:p.Leu128Arg",
        "hgvsWellDefined": "NP_001035810.1:p.Leu128Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009645"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 616,
          "referenceAllele": "T",
          "start": 615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "XM_005274657.2:c.473T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274714.1:p.Leu158Arg",
        "hgvsWellDefined": "XP_005274714.1:p.Leu158Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068029"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 505,
          "referenceAllele": "T",
          "start": 504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "XM_005274658.2:c.383T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274715.1:p.Leu128Arg",
        "hgvsWellDefined": "XP_005274715.1:p.Leu128Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068030"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 616,
          "referenceAllele": "T",
          "start": 615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "XM_011531132.1:c.473T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529434.1:p.Leu158Arg",
        "hgvsWellDefined": "XP_011529434.1:p.Leu158Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098173"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828057900",
      "coordinates": [
        {
          "allele": "G",
          "end": 449,
          "referenceAllele": "T",
          "start": 448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "NM_001360016.2:c.383T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001346945.1:p.Leu128Arg",
        "hgvsWellDefined": "NP_001346945.1:p.Leu128Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522989",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393562.10:c.383T>G"
          },
          "RefSeq": {
            "hgvs": "NM_001360016.2:c.383T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377192.3:p.Leu128Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001346945.1:p.Leu128Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825396133",
      "coordinates": [
        {
          "allele": "G",
          "end": 493,
          "referenceAllele": "T",
          "start": 492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "NM_001042351.3:c.383T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035810.1:p.Leu128Arg",
        "hgvsWellDefined": "NP_001035810.1:p.Leu128Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676000"
    }
  ],
  "type": "nucleotide"
}