{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA389474374",
  "communityStandardTitle": [
    "NM_005249.5(FOXG1):c.95A>G (p.Asn32Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1144562[alleleid]",
        "alleleId": 1144562,
        "preferredName": "NM_005249.5(FOXG1):c.95A>G (p.Asn32Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1144732",
        "RCV": [
          "RCV001483325",
          "RCV002562686"
        ],
        "variationId": 1144732
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.29236580A>G?assembly=hg19",
        "id": "chr14:g.29236580A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.28767374A>G?assembly=hg38",
        "id": "chr14:g.28767374A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1429160286",
        "rs": 1429160286
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-29236580-A-G?dataset=gnomad_r2_1",
        "id": "14-29236580-A-G",
        "variant": "14:29236580 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-28767374-A-G?dataset=gnomad_r4",
        "id": "14-28767374-A-G",
        "variant": "14:28767374 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 28767374,
          "referenceAllele": "A",
          "start": 28767373
        }
      ],
      "hgvs": [
        "NC_000014.9:g.28767374A>G",
        "CM000676.2:g.28767374A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 29236580,
          "referenceAllele": "A",
          "start": 29236579
        }
      ],
      "hgvs": [
        "NC_000014.8:g.29236580A>G",
        "CM000676.1:g.29236580A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 28306331,
          "referenceAllele": "A",
          "start": 28306330
        }
      ],
      "hgvs": [
        "NC_000014.7:g.28306331A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5294,
          "referenceAllele": "A",
          "start": 5293
        }
      ],
      "hgvs": [
        "NG_009367.1:g.5294A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001575"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1770,
          "referenceAllele": "A",
          "start": 1769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003811",
      "geneNCBI_id": 2290,
      "geneSymbol": "FOXG1",
      "hgvs": [
        "ENST00000706482.1:c.95A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516406.1:p.Asn32Ser",
        "hgvsWellDefined": "ENSP00000516406.1:p.Asn32Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS912883"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 588,
          "referenceAllele": "A",
          "start": 587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003811",
      "geneNCBI_id": 2290,
      "geneSymbol": "FOXG1",
      "hgvs": [
        "ENST00000313071.7:c.95A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339004.3:p.Asn32Ser",
        "hgvsWellDefined": "ENSP00000339004.3:p.Asn32Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745833",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000313071.7:c.95A>G"
          },
          "RefSeq": {
            "hgvs": "NM_005249.5:c.95A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000339004.3:p.Asn32Ser"
          },
          "RefSeq": {
            "hgvs": "NP_005240.3:p.Asn32Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1987,
          "referenceAllele": "A",
          "start": 1986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003811",
      "geneNCBI_id": 2290,
      "geneSymbol": "FOXG1",
      "hgvs": [
        "ENST00000313071.6:c.95A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339004.3:p.Asn32Ser",
        "hgvsWellDefined": "ENSP00000339004.3:p.Asn32Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256763"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499270596",
      "coordinates": [
        {
          "allele": "G",
          "end": 303,
          "referenceAllele": "A",
          "start": 302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003811",
      "geneNCBI_id": 2290,
      "geneSymbol": "FOXG1",
      "hgvs": [
        "NM_005249.4:c.95A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005240.3:p.Asn32Ser",
        "hgvsWellDefined": "NP_005240.3:p.Asn32Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030360"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499270596",
      "coordinates": [
        {
          "allele": "G",
          "end": 588,
          "referenceAllele": "A",
          "start": 587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003811",
      "geneNCBI_id": 2290,
      "geneSymbol": "FOXG1",
      "hgvs": [
        "NM_005249.5:c.95A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005240.3:p.Asn32Ser",
        "hgvsWellDefined": "NP_005240.3:p.Asn32Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696361",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000313071.7:c.95A>G"
          },
          "RefSeq": {
            "hgvs": "NM_005249.5:c.95A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000339004.3:p.Asn32Ser"
          },
          "RefSeq": {
            "hgvs": "NP_005240.3:p.Asn32Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}