{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1141581454",
  "communityStandardTitle": [
    "NM_022051.3(EGLN1):c.1121A= (p.His374=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/119476045",
        "rs": 119476045
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 231370589,
          "referenceAllele": "T",
          "start": 231370588
        }
      ],
      "hgvs": [
        "NC_000001.11:g.231370589T=",
        "CM000663.2:g.231370589T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 231506335,
          "referenceAllele": "T",
          "start": 231506334
        }
      ],
      "hgvs": [
        "NC_000001.10:g.231506335T=",
        "CM000663.1:g.231506335T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 229572958,
          "referenceAllele": "T",
          "start": 229572957
        }
      ],
      "hgvs": [
        "NC_000001.9:g.229572958T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 59456,
          "referenceAllele": "A",
          "start": 59455
        }
      ],
      "hgvs": [
        "NG_015865.1:g.59456A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002889"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1520,
          "referenceAllele": "A",
          "start": 1519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001232",
      "geneNCBI_id": 54583,
      "geneSymbol": "EGLN1",
      "hgvs": [
        "ENST00000366641.4:c.1121A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355601.3:p.His374="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749828",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366641.4:c.1121A="
          },
          "RefSeq": {
            "hgvs": "NM_022051.3:c.1121A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355601.3:p.His374="
          },
          "RefSeq": {
            "hgvs": "NP_071334.1:p.His374="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 398,
          "referenceAllele": "A",
          "start": 397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001232",
      "geneNCBI_id": 54583,
      "geneSymbol": "EGLN1",
      "hgvs": [
        "ENST00000476717.2:n.398A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757199"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 663,
          "referenceAllele": "A",
          "start": 662
        }
      ],
      "hgvs": [
        "ENST00000653198.1:n.663A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772408"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 541,
          "endIntronDirection": "-",
          "endIntronOffset": 2952,
          "referenceAllele": "A",
          "start": 541,
          "startIntronDirection": "-",
          "startIntronOffset": 2953
        }
      ],
      "hgvs": [
        "ENST00000653908.1:c.151-2953A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499669.1:n.151-2953A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772443"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 343,
          "referenceAllele": "A",
          "start": 342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001232",
      "geneNCBI_id": 54583,
      "geneSymbol": "EGLN1",
      "hgvs": [
        "ENST00000654803.1:c.343A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772475"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 495,
          "referenceAllele": "A",
          "start": 494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001232",
      "geneNCBI_id": 54583,
      "geneSymbol": "EGLN1",
      "hgvs": [
        "ENST00000658954.1:c.495A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772638"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 728,
          "referenceAllele": "A",
          "start": 727
        }
      ],
      "hgvs": [
        "ENST00000662216.1:c.260A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499467.1:p.His87="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772764"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 221,
          "referenceAllele": "A",
          "start": 220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001232",
      "geneNCBI_id": 54583,
      "geneSymbol": "EGLN1",
      "hgvs": [
        "ENST00000663780.1:n.221A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772830"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 315,
          "endIntronDirection": "-",
          "endIntronOffset": 2952,
          "referenceAllele": "A",
          "start": 315,
          "startIntronDirection": "-",
          "startIntronOffset": 2953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001232",
      "geneNCBI_id": 54583,
      "geneSymbol": "EGLN1",
      "hgvs": [
        "ENST00000667629.1:c.316-2953A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499629.1:n.316-2953A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772987"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 229,
          "endIntronDirection": "-",
          "endIntronOffset": 4113,
          "referenceAllele": "A",
          "start": 229,
          "startIntronDirection": "-",
          "startIntronOffset": 4114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001232",
      "geneNCBI_id": 54583,
      "geneSymbol": "EGLN1",
      "hgvs": [
        "ENST00000670301.1:c.230-4114A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773097"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4277,
          "referenceAllele": "A",
          "start": 4276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001232",
      "geneNCBI_id": 54583,
      "geneSymbol": "EGLN1",
      "hgvs": [
        "ENST00000366641.3:c.1121A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355601.3:p.His374="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265941"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 398,
          "referenceAllele": "A",
          "start": 397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001232",
      "geneNCBI_id": 54583,
      "geneSymbol": "EGLN1",
      "hgvs": [
        "ENST00000476717.1:n.398A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS317700"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829962132",
      "coordinates": [
        {
          "allele": "A",
          "end": 4277,
          "referenceAllele": "A",
          "start": 4276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001232",
      "geneNCBI_id": 54583,
      "geneSymbol": "EGLN1",
      "hgvs": [
        "NM_022051.2:c.1121A="
      ],
      "proteinEffect": {
        "hgvs": "NP_071334.1:p.His374="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037156"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1549,
          "referenceAllele": "A",
          "start": 1548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001232",
      "geneNCBI_id": 54583,
      "geneSymbol": "EGLN1",
      "hgvs": [
        "XM_005273166.3:c.1121A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005273223.1:p.His374="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067471"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1439,
          "endIntronDirection": "-",
          "endIntronOffset": 2952,
          "referenceAllele": "A",
          "start": 1439,
          "startIntronDirection": "-",
          "startIntronOffset": 2953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001232",
      "geneNCBI_id": 54583,
      "geneSymbol": "EGLN1",
      "hgvs": [
        "XM_005273167.3:c.1012-2953A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005273224.1:n.1012-2953A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067472"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1559,
          "referenceAllele": "A",
          "start": 1558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001232",
      "geneNCBI_id": 54583,
      "geneSymbol": "EGLN1",
      "hgvs": [
        "XM_005273166.5:c.1121A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005273223.1:p.His374="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537398"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1454,
          "endIntronDirection": "-",
          "endIntronOffset": 2952,
          "referenceAllele": "A",
          "start": 1454,
          "startIntronDirection": "-",
          "startIntronOffset": 2953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001232",
      "geneNCBI_id": 54583,
      "geneSymbol": "EGLN1",
      "hgvs": [
        "XM_005273167.5:c.1012-2953A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005273224.1:n.1012-2953A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537399"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1455,
          "endIntronDirection": "-",
          "endIntronOffset": 2952,
          "referenceAllele": "A",
          "start": 1455,
          "startIntronDirection": "-",
          "startIntronOffset": 2953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001232",
      "geneNCBI_id": 54583,
      "geneSymbol": "EGLN1",
      "hgvs": [
        "XM_024447734.1:c.1012-2953A="
      ],
      "proteinEffect": {
        "hgvs": "XP_024303502.1:n.1012-2953A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581315"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828702366",
      "coordinates": [
        {
          "allele": "A",
          "end": 1520,
          "referenceAllele": "A",
          "start": 1519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001232",
      "geneNCBI_id": 54583,
      "geneSymbol": "EGLN1",
      "hgvs": [
        "NM_001377260.1:c.1121A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001364189.1:p.His374="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695047"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1410,
          "endIntronDirection": "-",
          "endIntronOffset": 2952,
          "referenceAllele": "A",
          "start": 1410,
          "startIntronDirection": "-",
          "startIntronOffset": 2953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001232",
      "geneNCBI_id": 54583,
      "geneSymbol": "EGLN1",
      "hgvs": [
        "NM_001377261.1:c.1012-2953A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001364190.1:n.1012-2953A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695048"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829962132",
      "coordinates": [
        {
          "allele": "A",
          "end": 1520,
          "referenceAllele": "A",
          "start": 1519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001232",
      "geneNCBI_id": 54583,
      "geneSymbol": "EGLN1",
      "hgvs": [
        "NM_022051.3:c.1121A="
      ],
      "proteinEffect": {
        "hgvs": "NP_071334.1:p.His374="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698487",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366641.4:c.1121A="
          },
          "RefSeq": {
            "hgvs": "NM_022051.3:c.1121A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355601.3:p.His374="
          },
          "RefSeq": {
            "hgvs": "NP_071334.1:p.His374="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}