{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA412954204",
  "communityStandardTitle": [
    "NM_014009.4(FOXP3):c.94G>T (p.Ala32Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2965558[alleleid]",
        "alleleId": 2965558,
        "preferredName": "NM_014009.4(FOXP3):c.94G>T (p.Ala32Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2812165",
        "RCV": [
          "RCV003625193"
        ],
        "variationId": 2812165
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.49114869C>A?assembly=hg19",
        "id": "chrX:g.49114869C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.49258412C>A?assembly=hg38",
        "id": "chrX:g.49258412C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2519196906",
        "rs": 2519196906
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-49258412-C-A?dataset=gnomad_r4",
        "id": "X-49258412-C-A",
        "variant": "X:49258412 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 49258412,
          "referenceAllele": "C",
          "start": 49258411
        }
      ],
      "hgvs": [
        "NC_000023.11:g.49258412C>A",
        "CM000685.2:g.49258412C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 49114869,
          "referenceAllele": "C",
          "start": 49114868
        }
      ],
      "hgvs": [
        "NC_000023.10:g.49114869C>A",
        "CM000685.1:g.49114869C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 49001813,
          "referenceAllele": "C",
          "start": 49001812
        }
      ],
      "hgvs": [
        "NC_000023.9:g.49001813C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11420,
          "referenceAllele": "G",
          "start": 11419
        }
      ],
      "hgvs": [
        "NG_007392.1:g.11420G>T",
        "LRG_62:g.11420G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000561"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 583,
          "referenceAllele": "G",
          "start": 582
        }
      ],
      "hgvs": [
        "ENST00000703450.1:c.94G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515301.1:p.Ala32Ser",
        "hgvsWellDefined": "ENSP00000515301.1:p.Ala32Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911706"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 166,
          "referenceAllele": "G",
          "start": 165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "ENST00000684155.1:c.94G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507726.1:p.Ala32Ser",
        "hgvsWellDefined": "ENSP00000507726.1:p.Ala32Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829113"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 256,
          "referenceAllele": "G",
          "start": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "ENST00000376199.7:c.94G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365372.2:p.Ala32Ser",
        "hgvsWellDefined": "ENSP00000365372.2:p.Ala32Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751726"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 166,
          "referenceAllele": "G",
          "start": 165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "ENST00000376207.10:c.94G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365380.4:p.Ala32Ser",
        "hgvsWellDefined": "ENSP00000365380.4:p.Ala32Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751728",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376207.10:c.94G>T"
          },
          "RefSeq": {
            "hgvs": "NM_014009.4:c.94G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365380.4:p.Ala32Ser"
          },
          "RefSeq": {
            "hgvs": "NP_054728.2:p.Ala32Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 124,
          "referenceAllele": "G",
          "start": 123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "ENST00000455775.7:c.94G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396415.3:p.Ala32Ser",
        "hgvsWellDefined": "ENSP00000396415.3:p.Ala32Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756528"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 94,
          "referenceAllele": "G",
          "start": 93
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "ENST00000518685.6:c.94G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428952.2:p.Ala32Ser",
        "hgvsWellDefined": "ENSP00000428952.2:p.Ala32Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758617"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 166,
          "referenceAllele": "G",
          "start": 165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "ENST00000557224.6:c.94G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451208.1:p.Ala32Ser",
        "hgvsWellDefined": "ENSP00000451208.1:p.Ala32Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760192"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 583,
          "referenceAllele": "G",
          "start": 582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "ENST00000650877.1:c.94G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499100.1:p.Ala32Ser",
        "hgvsWellDefined": "ENSP00000499100.1:p.Ala32Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771365"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 116,
          "referenceAllele": "G",
          "start": 115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "ENST00000651307.1:c.94G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498454.1:p.Ala32Ser",
        "hgvsWellDefined": "ENSP00000498454.1:p.Ala32Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771589"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 136,
          "referenceAllele": "G",
          "start": 135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "ENST00000652559.1:c.94G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498236.1:p.Ala32Ser",
        "hgvsWellDefined": "ENSP00000498236.1:p.Ala32Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772276"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 49,
          "referenceAllele": "G",
          "start": 48
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "ENST00000376197.1:c.49G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365369.1:p.Ala17Ser",
        "hgvsWellDefined": "ENSP00000365369.1:p.Ala17Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271054"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 282,
          "referenceAllele": "G",
          "start": 281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "ENST00000376199.6:c.94G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365372.2:p.Ala32Ser",
        "hgvsWellDefined": "ENSP00000365372.2:p.Ala32Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271055"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 282,
          "referenceAllele": "G",
          "start": 281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "ENST00000376207.8:c.94G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365380.4:p.Ala32Ser",
        "hgvsWellDefined": "ENSP00000365380.4:p.Ala32Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271057"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 282,
          "referenceAllele": "G",
          "start": 281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "ENST00000455775.6:c.94G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396415.3:p.Ala32Ser",
        "hgvsWellDefined": "ENSP00000396415.3:p.Ala32Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303198"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 116,
          "referenceAllele": "G",
          "start": 115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "ENST00000518685.5:c.94G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428952.1:p.Ala32Ser",
        "hgvsWellDefined": "ENSP00000428952.1:p.Ala32Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS346082"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 94,
          "referenceAllele": "G",
          "start": 93
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "ENST00000557224.5:c.94G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451208.1:p.Ala32Ser",
        "hgvsWellDefined": "ENSP00000451208.1:p.Ala32Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS372848"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825571611",
      "coordinates": [
        {
          "allele": "T",
          "end": 282,
          "referenceAllele": "G",
          "start": 281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "NM_001114377.1:c.94G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107849.1:p.Ala32Ser",
        "hgvsWellDefined": "NP_001107849.1:p.Ala32Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011319"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741940671",
      "coordinates": [
        {
          "allele": "T",
          "end": 282,
          "referenceAllele": "G",
          "start": 281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "NM_014009.3:c.94G>T",
        "LRG_62t1:c.94G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_054728.2:p.Ala32Ser",
        "hgvsWellDefined": "NP_054728.2:p.Ala32Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032870"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 388,
          "referenceAllele": "G",
          "start": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "XM_006724533.2:c.94G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724596.2:p.Ala32Ser",
        "hgvsWellDefined": "XP_006724596.2:p.Ala32Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075567"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1961,
          "referenceAllele": "G",
          "start": 1960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "XM_011543915.1:c.418G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542217.1:p.Ala140Ser",
        "hgvsWellDefined": "XP_011542217.1:p.Ala140Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110828"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1803,
          "referenceAllele": "G",
          "start": 1802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "XM_011543916.1:c.418G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542218.1:p.Ala140Ser",
        "hgvsWellDefined": "XP_011542218.1:p.Ala140Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110829"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 388,
          "referenceAllele": "G",
          "start": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "XM_011543917.1:c.94G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542219.1:p.Ala32Ser",
        "hgvsWellDefined": "XP_011542219.1:p.Ala32Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110830"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1955,
          "referenceAllele": "G",
          "start": 1954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "XM_011543918.1:c.418G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542220.1:p.Ala140Ser",
        "hgvsWellDefined": "XP_011542220.1:p.Ala140Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110831"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1953,
          "referenceAllele": "G",
          "start": 1952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "XM_011543919.1:c.418G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542221.1:p.Ala140Ser",
        "hgvsWellDefined": "XP_011542221.1:p.Ala140Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110832"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 207,
          "referenceAllele": "G",
          "start": 206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "XM_017029567.1:c.145G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885056.1:p.Ala49Ser",
        "hgvsWellDefined": "XP_016885056.1:p.Ala49Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579085"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825571611",
      "coordinates": [
        {
          "allele": "T",
          "end": 166,
          "referenceAllele": "G",
          "start": 165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "NM_001114377.2:c.94G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107849.1:p.Ala32Ser",
        "hgvsWellDefined": "NP_001107849.1:p.Ala32Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676745"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741940671",
      "coordinates": [
        {
          "allele": "T",
          "end": 166,
          "referenceAllele": "G",
          "start": 165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "NM_014009.4:c.94G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_054728.2:p.Ala32Ser",
        "hgvsWellDefined": "NP_054728.2:p.Ala32Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697169",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376207.10:c.94G>T"
          },
          "RefSeq": {
            "hgvs": "NM_014009.4:c.94G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365380.4:p.Ala32Ser"
          },
          "RefSeq": {
            "hgvs": "NP_054728.2:p.Ala32Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}