{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2573051514",
  "communityStandardTitle": [
    "NM_014236.4(GNPAT):c.569-3T>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1241984[alleleid]",
        "alleleId": 1241984,
        "preferredName": "NM_014236.4(GNPAT):c.569-3T>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1252036",
        "RCV": [
          "RCV001844353"
        ],
        "variationId": 1252036
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/745869264",
        "rs": 745869264
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-231265290-T-G?dataset=gnomad_r4",
        "id": "1-231265290-T-G",
        "variant": "1:231265290 T / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 231265290,
          "referenceAllele": "T",
          "start": 231265289
        }
      ],
      "hgvs": [
        "NC_000001.11:g.231265290T>G",
        "CM000663.2:g.231265290T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 231401036,
          "referenceAllele": "T",
          "start": 231401035
        }
      ],
      "hgvs": [
        "NC_000001.10:g.231401036T>G",
        "CM000663.1:g.231401036T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 229467659,
          "referenceAllele": "T",
          "start": 229467658
        }
      ],
      "hgvs": [
        "NC_000001.9:g.229467659T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 29118,
          "referenceAllele": "T",
          "start": 29117
        }
      ],
      "hgvs": [
        "NG_008240.1:g.29118T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000971"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 29118,
          "referenceAllele": "T",
          "start": 29117
        }
      ],
      "hgvs": [
        "NG_008240.2:g.29118T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673495"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 735,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 735,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004416",
      "geneNCBI_id": 8443,
      "geneSymbol": "GNPAT",
      "hgvs": [
        "ENST00000366647.9:c.569-3T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355607.4:n.569-3T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749829",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366647.9:c.569-3T>G"
          },
          "RefSeq": {
            "hgvs": "NM_014236.4:c.569-3T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355607.4:n.569-3T>G"
          },
          "RefSeq": {
            "hgvs": "NP_055051.1:n.569-3T>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 819,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 819,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004416",
      "geneNCBI_id": 8443,
      "geneSymbol": "GNPAT",
      "hgvs": [
        "ENST00000644483.1:c.*255-3T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496537.1:n.*255-3T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767837"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 737,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 737,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004416",
      "geneNCBI_id": 8443,
      "geneSymbol": "GNPAT",
      "hgvs": [
        "ENST00000366647.8:c.569-3T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355607.4:n.569-3T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265944"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 701,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 701,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004416",
      "geneNCBI_id": 8443,
      "geneSymbol": "GNPAT",
      "hgvs": [
        "ENST00000416000.1:c.539-3T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411640.1:n.539-3T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS284261"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 557,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 557,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004416",
      "geneNCBI_id": 8443,
      "geneSymbol": "GNPAT",
      "hgvs": [
        "ENST00000436239.5:c.386-3T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402811.1:n.386-3T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS293879"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 591,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 591,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004416",
      "geneNCBI_id": 8443,
      "geneSymbol": "GNPAT",
      "hgvs": [
        "NM_001316350.1:c.386-3T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001303279.1:n.386-3T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026591"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 774,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 774,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004416",
      "geneNCBI_id": 8443,
      "geneSymbol": "GNPAT",
      "hgvs": [
        "NM_014236.3:c.569-3T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_055051.1:n.569-3T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033005"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 734,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 734,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004416",
      "geneNCBI_id": 8443,
      "geneSymbol": "GNPAT",
      "hgvs": [
        "XM_005273313.3:c.566-3T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005273370.1:n.566-3T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067537"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 819,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 819,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004416",
      "geneNCBI_id": 8443,
      "geneSymbol": "GNPAT",
      "hgvs": [
        "XM_011544303.1:c.242-3T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542605.1:n.242-3T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111215"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 642,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 642,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004416",
      "geneNCBI_id": 8443,
      "geneSymbol": "GNPAT",
      "hgvs": [
        "XM_011544304.1:c.242-3T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542606.1:n.242-3T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111216"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 734,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 734,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004416",
      "geneNCBI_id": 8443,
      "geneSymbol": "GNPAT",
      "hgvs": [
        "XM_005273313.4:c.566-3T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005273370.1:n.566-3T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537426"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 819,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 819,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004416",
      "geneNCBI_id": 8443,
      "geneSymbol": "GNPAT",
      "hgvs": [
        "XM_011544303.3:c.242-3T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542605.1:n.242-3T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555595"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 642,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 642,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004416",
      "geneNCBI_id": 8443,
      "geneSymbol": "GNPAT",
      "hgvs": [
        "XM_011544304.2:c.242-3T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542606.1:n.242-3T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555596"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 735,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 735,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004416",
      "geneNCBI_id": 8443,
      "geneSymbol": "GNPAT",
      "hgvs": [
        "NM_014236.4:c.569-3T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_055051.1:n.569-3T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668244",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366647.9:c.569-3T>G"
          },
          "RefSeq": {
            "hgvs": "NM_014236.4:c.569-3T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355607.4:n.569-3T>G"
          },
          "RefSeq": {
            "hgvs": "NP_055051.1:n.569-3T>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 552,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 552,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004416",
      "geneNCBI_id": 8443,
      "geneSymbol": "GNPAT",
      "hgvs": [
        "NM_001316350.2:c.386-3T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001303279.1:n.386-3T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684175"
    }
  ],
  "type": "nucleotide"
}