{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA126460",
  "communityStandardTitle": [
    "NM_021871.4(FGA):c.92G>T (p.Gly31Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=31437[alleleid]",
        "alleleId": 31437,
        "preferredName": "NM_000508.3(FGA):c.92G>T (p.Gly31Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/16398",
        "RCV": [
          "RCV000017824",
          "RCV002284175"
        ],
        "variationId": 16398
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.155510677C>A?assembly=hg19",
        "id": "chr4:g.155510677C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.154589525C>A?assembly=hg38",
        "id": "chr4:g.154589525C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121909605",
        "rs": 121909605
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-154589525-C-A?dataset=gnomad_r3",
        "id": "4-154589525-C-A",
        "variant": "4:154589525 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-154589525-C-A?dataset=gnomad_r4",
        "id": "4-154589525-C-A",
        "variant": "4:154589525 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 154589525,
          "referenceAllele": "C",
          "start": 154589524
        }
      ],
      "hgvs": [
        "NC_000004.12:g.154589525C>A",
        "CM000666.2:g.154589525C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 155510677,
          "referenceAllele": "C",
          "start": 155510676
        }
      ],
      "hgvs": [
        "NC_000004.11:g.155510677C>A",
        "CM000666.1:g.155510677C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 155730127,
          "referenceAllele": "C",
          "start": 155730126
        }
      ],
      "hgvs": [
        "NC_000004.10:g.155730127C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6221,
          "referenceAllele": "G",
          "start": 6220
        }
      ],
      "hgvs": [
        "NG_008832.1:g.6221G>T",
        "LRG_557:g.6221G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001227"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 147,
          "referenceAllele": "G",
          "start": 146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003661",
      "geneNCBI_id": 2243,
      "geneSymbol": "FGA",
      "hgvs": [
        "ENST00000651975.2:c.92G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498441.1:p.Gly31Val",
        "hgvsWellDefined": "ENSP00000498441.1:p.Gly31Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906500"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 147,
          "referenceAllele": "G",
          "start": 146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003661",
      "geneNCBI_id": 2243,
      "geneSymbol": "FGA",
      "hgvs": [
        "ENST00000403106.8:c.92G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385981.3:p.Gly31Val",
        "hgvsWellDefined": "ENSP00000385981.3:p.Gly31Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754037",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000403106.8:c.92G>T"
          },
          "RefSeq": {
            "hgvs": "NM_021871.4:c.92G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000385981.3:p.Gly31Val"
          },
          "RefSeq": {
            "hgvs": "NP_068657.1:p.Gly31Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 150,
          "referenceAllele": "G",
          "start": 149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003661",
      "geneNCBI_id": 2243,
      "geneSymbol": "FGA",
      "hgvs": [
        "ENST00000651975.1:c.92G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498441.1:p.Gly31Val",
        "hgvsWellDefined": "ENSP00000498441.1:p.Gly31Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771961"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 171,
          "referenceAllele": "G",
          "start": 170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003661",
      "geneNCBI_id": 2243,
      "geneSymbol": "FGA",
      "hgvs": [
        "ENST00000302053.7:c.92G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000306361.3:p.Gly31Val",
        "hgvsWellDefined": "ENSP00000306361.3:p.Gly31Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255105"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 171,
          "referenceAllele": "G",
          "start": 170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003661",
      "geneNCBI_id": 2243,
      "geneSymbol": "FGA",
      "hgvs": [
        "ENST00000403106.7:c.92G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385981.3:p.Gly31Val",
        "hgvsWellDefined": "ENSP00000385981.3:p.Gly31Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279723"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 149,
          "referenceAllele": "G",
          "start": 148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003661",
      "geneNCBI_id": 2243,
      "geneSymbol": "FGA",
      "hgvs": [
        "ENST00000622532.1:c.92G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478487.1:p.Gly31Val",
        "hgvsWellDefined": "ENSP00000478487.1:p.Gly31Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405775"
    },
    {
      "@id": "http://reg.genome.network/allele/PA126463",
      "coordinates": [
        {
          "allele": "T",
          "end": 150,
          "referenceAllele": "G",
          "start": 149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003661",
      "geneNCBI_id": 2243,
      "geneSymbol": "FGA",
      "hgvs": [
        "NM_000508.3:c.92G>T",
        "LRG_557t1:c.92G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000499.1:p.Gly31Val",
        "hgvsWellDefined": "NP_000499.1:p.Gly31Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006563"
    },
    {
      "@id": "http://reg.genome.network/allele/PA126464",
      "coordinates": [
        {
          "allele": "T",
          "end": 150,
          "referenceAllele": "G",
          "start": 149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003661",
      "geneNCBI_id": 2243,
      "geneSymbol": "FGA",
      "hgvs": [
        "NM_021871.2:c.92G>T",
        "LRG_557t2:c.92G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_068657.1:p.Gly31Val",
        "hgvsWellDefined": "NP_068657.1:p.Gly31Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037058"
    },
    {
      "@id": "http://reg.genome.network/allele/PA126463",
      "coordinates": [
        {
          "allele": "T",
          "end": 171,
          "referenceAllele": "G",
          "start": 170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003661",
      "geneNCBI_id": 2243,
      "geneSymbol": "FGA",
      "hgvs": [
        "NM_000508.4:c.92G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000499.1:p.Gly31Val",
        "hgvsWellDefined": "NP_000499.1:p.Gly31Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510806"
    },
    {
      "@id": "http://reg.genome.network/allele/PA126464",
      "coordinates": [
        {
          "allele": "T",
          "end": 171,
          "referenceAllele": "G",
          "start": 170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003661",
      "geneNCBI_id": 2243,
      "geneSymbol": "FGA",
      "hgvs": [
        "NM_021871.3:c.92G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_068657.1:p.Gly31Val",
        "hgvsWellDefined": "NP_068657.1:p.Gly31Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526062"
    },
    {
      "@id": "http://reg.genome.network/allele/PA126464",
      "coordinates": [
        {
          "allele": "T",
          "end": 147,
          "referenceAllele": "G",
          "start": 146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003661",
      "geneNCBI_id": 2243,
      "geneSymbol": "FGA",
      "hgvs": [
        "NM_021871.4:c.92G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_068657.1:p.Gly31Val",
        "hgvsWellDefined": "NP_068657.1:p.Gly31Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670311",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000403106.8:c.92G>T"
          },
          "RefSeq": {
            "hgvs": "NM_021871.4:c.92G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000385981.3:p.Gly31Val"
          },
          "RefSeq": {
            "hgvs": "NP_068657.1:p.Gly31Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA126463",
      "coordinates": [
        {
          "allele": "T",
          "end": 147,
          "referenceAllele": "G",
          "start": 146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003661",
      "geneNCBI_id": 2243,
      "geneSymbol": "FGA",
      "hgvs": [
        "NM_000508.5:c.92G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000499.1:p.Gly31Val",
        "hgvsWellDefined": "NP_000499.1:p.Gly31Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674873"
    }
  ],
  "type": "nucleotide"
}