{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA121055",
  "communityStandardTitle": [
    "NM_001360016.2(G6PD):c.208T>C (p.Tyr70His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=25455[alleleid]",
        "alleleId": 25455,
        "preferredName": "NM_000402.4(G6PD):c.298T>C (p.Tyr100His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/10416",
        "RCV": [
          "RCV000011160",
          "RCV001264782"
        ],
        "variationId": 10416
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-153764211-A-G",
        "id": "X-153764211-A-G",
        "variant": "X:153764211 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.153764211A>G?assembly=hg19",
        "id": "chrX:g.153764211A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.154535996A>G?assembly=hg38",
        "id": "chrX:g.154535996A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/137852349",
        "rs": 137852349
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-153764211-A-G?dataset=gnomad_r2_1",
        "id": "X-153764211-A-G",
        "variant": "X:153764211 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-154535996-A-G?dataset=gnomad_r4",
        "id": "X-154535996-A-G",
        "variant": "X:154535996 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 154535996,
          "referenceAllele": "A",
          "start": 154535995
        }
      ],
      "hgvs": [
        "NC_000023.11:g.154535996A>G",
        "CM000685.2:g.154535996A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 153764211,
          "referenceAllele": "A",
          "start": 153764210
        }
      ],
      "hgvs": [
        "NC_000023.10:g.153764211A>G",
        "CM000685.1:g.153764211A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 153417405,
          "referenceAllele": "A",
          "start": 153417404
        }
      ],
      "hgvs": [
        "NC_000023.9:g.153417405A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 16577,
          "referenceAllele": "T",
          "start": 16576
        }
      ],
      "hgvs": [
        "NG_009015.2:g.16577T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001380"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 321,
          "referenceAllele": "T",
          "start": 320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000393564.7:c.208T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377194.2:p.Tyr70His",
        "hgvsWellDefined": "ENSP00000377194.2:p.Tyr70His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904600"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 383,
          "referenceAllele": "T",
          "start": 382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000439227.6:c.208T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395599.2:p.Tyr70His",
        "hgvsWellDefined": "ENSP00000395599.2:p.Tyr70His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904902"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 274,
          "referenceAllele": "T",
          "start": 273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000696420.1:c.208T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512615.1:p.Tyr70His",
        "hgvsWellDefined": "ENSP00000512615.1:p.Tyr70His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907877"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 274,
          "referenceAllele": "T",
          "start": 273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000696421.1:c.208T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512616.1:p.Tyr70His",
        "hgvsWellDefined": "ENSP00000512616.1:p.Tyr70His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907878"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 88,
          "referenceAllele": "T",
          "start": 87
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000696422.1:c.88T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907879"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 88,
          "referenceAllele": "T",
          "start": 87
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000696423.1:c.88T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907880"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 88,
          "referenceAllele": "T",
          "start": 87
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000696424.1:c.88T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512619.1:p.Tyr30His",
        "hgvsWellDefined": "ENSP00000512619.1:p.Tyr30His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907881"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 272,
          "referenceAllele": "T",
          "start": 271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000696425.1:c.208T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512620.1:p.Tyr70His",
        "hgvsWellDefined": "ENSP00000512620.1:p.Tyr70His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907882"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 326,
          "referenceAllele": "T",
          "start": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000696426.1:c.208T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512621.1:p.Tyr70His",
        "hgvsWellDefined": "ENSP00000512621.1:p.Tyr70His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907883"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 254,
          "referenceAllele": "T",
          "start": 253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000696427.1:c.208T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512622.1:p.Tyr70His",
        "hgvsWellDefined": "ENSP00000512622.1:p.Tyr70His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907884"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 393,
          "referenceAllele": "T",
          "start": 392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000696428.1:c.*50T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512623.1:n.*50T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907885"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 417,
          "referenceAllele": "T",
          "start": 416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000696429.1:c.208T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512624.1:p.Tyr70His",
        "hgvsWellDefined": "ENSP00000512624.1:p.Tyr70His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907886"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 475,
          "referenceAllele": "T",
          "start": 474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000696430.1:c.208T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512625.1:p.Tyr70His",
        "hgvsWellDefined": "ENSP00000512625.1:p.Tyr70His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907887"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 281,
          "referenceAllele": "T",
          "start": 280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000696431.1:c.208T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512626.1:p.Tyr70His",
        "hgvsWellDefined": "ENSP00000512626.1:p.Tyr70His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907888"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 274,
          "referenceAllele": "T",
          "start": 273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000393562.10:c.208T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377192.3:p.Tyr70His",
        "hgvsWellDefined": "ENSP00000377192.3:p.Tyr70His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753138",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393562.10:c.208T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001360016.2:c.208T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377192.3:p.Tyr70His"
          },
          "RefSeq": {
            "hgvs": "NP_001346945.1:p.Tyr70His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 321,
          "referenceAllele": "T",
          "start": 320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000369620.6:c.208T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358633.2:p.Tyr70His",
        "hgvsWellDefined": "ENSP00000358633.2:p.Tyr70His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267612"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 682,
          "referenceAllele": "T",
          "start": 681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000393562.6:c.298T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377192.2:p.Tyr100His",
        "hgvsWellDefined": "ENSP00000377192.2:p.Tyr100His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275692"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 321,
          "referenceAllele": "T",
          "start": 320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000393564.6:c.208T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377194.2:p.Tyr70His",
        "hgvsWellDefined": "ENSP00000377194.2:p.Tyr70His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275693"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 256,
          "referenceAllele": "T",
          "start": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000433845.1:c.208T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394690.1:p.Tyr70His",
        "hgvsWellDefined": "ENSP00000394690.1:p.Tyr70His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292741"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 266,
          "referenceAllele": "T",
          "start": 265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000439227.5:c.208T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395599.1:p.Tyr70His",
        "hgvsWellDefined": "ENSP00000395599.1:p.Tyr70His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295324"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 302,
          "referenceAllele": "T",
          "start": 301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000440967.5:c.208T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400648.1:p.Tyr70His",
        "hgvsWellDefined": "ENSP00000400648.1:p.Tyr70His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296156"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 162,
          "referenceAllele": "T",
          "start": 161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000488434.1:n.162T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS326741"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 162,
          "referenceAllele": "T",
          "start": 161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000497281.5:n.162T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS333548"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 682,
          "referenceAllele": "T",
          "start": 681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000621232.4:c.208T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483686.1:p.Tyr70His",
        "hgvsWellDefined": "ENSP00000483686.1:p.Tyr70His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405180"
    },
    {
      "@id": "http://reg.genome.network/allele/PA121056",
      "coordinates": [
        {
          "allele": "C",
          "end": 446,
          "referenceAllele": "T",
          "start": 445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "NM_000402.4:c.298T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000393.4:p.Tyr100His",
        "hgvsWellDefined": "NP_000393.4:p.Tyr100His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006463"
    },
    {
      "@id": "http://reg.genome.network/allele/PA095280",
      "coordinates": [
        {
          "allele": "C",
          "end": 335,
          "referenceAllele": "T",
          "start": 334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "NM_001042351.2:c.208T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035810.1:p.Tyr70His",
        "hgvsWellDefined": "NP_001035810.1:p.Tyr70His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009645"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 441,
          "referenceAllele": "T",
          "start": 440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "XM_005274657.2:c.298T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274714.1:p.Tyr100His",
        "hgvsWellDefined": "XP_005274714.1:p.Tyr100His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068029"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 330,
          "referenceAllele": "T",
          "start": 329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "XM_005274658.2:c.208T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274715.1:p.Tyr70His",
        "hgvsWellDefined": "XP_005274715.1:p.Tyr70His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068030"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 441,
          "referenceAllele": "T",
          "start": 440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "XM_011531132.1:c.298T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529434.1:p.Tyr100His",
        "hgvsWellDefined": "XP_011529434.1:p.Tyr100His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098173"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916043192",
      "coordinates": [
        {
          "allele": "C",
          "end": 274,
          "referenceAllele": "T",
          "start": 273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "NM_001360016.2:c.208T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001346945.1:p.Tyr70His",
        "hgvsWellDefined": "NP_001346945.1:p.Tyr70His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522989",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393562.10:c.208T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001360016.2:c.208T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377192.3:p.Tyr70His"
          },
          "RefSeq": {
            "hgvs": "NP_001346945.1:p.Tyr70His"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA095280",
      "coordinates": [
        {
          "allele": "C",
          "end": 318,
          "referenceAllele": "T",
          "start": 317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "NM_001042351.3:c.208T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035810.1:p.Tyr70His",
        "hgvsWellDefined": "NP_001035810.1:p.Tyr70His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676000"
    }
  ],
  "type": "nucleotide"
}