{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA115749",
  "communityStandardTitle": [
    "NM_000158.4(GBE1):c.771T>A (p.Phe257Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17819[alleleid]",
        "alleleId": 17819,
        "preferredName": "NM_000158.4(GBE1):c.771T>A (p.Phe257Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2780",
        "RCV": [
          "RCV000002912",
          "RCV000056143",
          "RCV000433912",
          "RCV001851594"
        ],
        "variationId": 2780
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.81695554A>T?assembly=hg19",
        "id": "chr3:g.81695554A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.81646403A>T?assembly=hg38",
        "id": "chr3:g.81646403A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/137852887",
        "rs": 137852887
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-81695554-A-T?dataset=gnomad_r2_1",
        "id": "3-81695554-A-T",
        "variant": "3:81695554 A / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-81646403-A-T?dataset=gnomad_r3",
        "id": "3-81646403-A-T",
        "variant": "3:81646403 A / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-81646403-A-T?dataset=gnomad_r4",
        "id": "3-81646403-A-T",
        "variant": "3:81646403 A / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 81646403,
          "referenceAllele": "A",
          "start": 81646402
        }
      ],
      "hgvs": [
        "NC_000003.12:g.81646403A>T",
        "CM000665.2:g.81646403A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 81695554,
          "referenceAllele": "A",
          "start": 81695553
        }
      ],
      "hgvs": [
        "NC_000003.11:g.81695554A>T",
        "CM000665.1:g.81695554A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 81778244,
          "referenceAllele": "A",
          "start": 81778243
        }
      ],
      "hgvs": [
        "NC_000003.10:g.81778244A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 120398,
          "referenceAllele": "T",
          "start": 120397
        }
      ],
      "hgvs": [
        "NG_011810.1:g.120398T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001993"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 899,
          "referenceAllele": "T",
          "start": 898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004180",
      "geneNCBI_id": 2632,
      "geneSymbol": "GBE1",
      "hgvs": [
        "ENST00000429644.7:c.771T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410833.2:p.Phe257Leu",
        "hgvsWellDefined": "ENSP00000410833.2:p.Phe257Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755279",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000429644.7:c.771T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000158.4:c.771T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000410833.2:p.Phe257Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000149.4:p.Phe257Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1415,
          "referenceAllele": "T",
          "start": 1414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004180",
      "geneNCBI_id": 2632,
      "geneSymbol": "GBE1",
      "hgvs": [
        "ENST00000429644.6:c.771T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410833.2:p.Phe257Leu",
        "hgvsWellDefined": "ENSP00000410833.2:p.Phe257Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290757"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 701,
          "referenceAllele": "T",
          "start": 700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004180",
      "geneNCBI_id": 2632,
      "geneSymbol": "GBE1",
      "hgvs": [
        "ENST00000489715.1:c.648T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419638.1:p.Phe216Leu",
        "hgvsWellDefined": "ENSP00000419638.1:p.Phe216Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS327720"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 321,
          "referenceAllele": "T",
          "start": 320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004180",
      "geneNCBI_id": 2632,
      "geneSymbol": "GBE1",
      "hgvs": [
        "ENST00000498468.1:n.321T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334469"
    },
    {
      "@id": "http://reg.genome.network/allele/PA115750",
      "coordinates": [
        {
          "allele": "A",
          "end": 1054,
          "referenceAllele": "T",
          "start": 1053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004180",
      "geneNCBI_id": 2632,
      "geneSymbol": "GBE1",
      "hgvs": [
        "NM_000158.3:c.771T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000149.3:p.Phe257Leu",
        "hgvsWellDefined": "NP_000149.3:p.Phe257Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006220"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915961216",
      "coordinates": [
        {
          "allele": "A",
          "end": 899,
          "referenceAllele": "T",
          "start": 898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004180",
      "geneNCBI_id": 2632,
      "geneSymbol": "GBE1",
      "hgvs": [
        "NM_000158.4:c.771T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000149.4:p.Phe257Leu",
        "hgvsWellDefined": "NP_000149.4:p.Phe257Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662331",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000429644.7:c.771T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000158.4:c.771T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000410833.2:p.Phe257Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000149.4:p.Phe257Leu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}