{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2141395966",
  "communityStandardTitle": [
    "NM_001530.4(HIF1A):c.1762G= (p.Ala588=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/11549467",
        "rs": 11549467
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 61740857,
          "referenceAllele": "G",
          "start": 61740856
        }
      ],
      "hgvs": [
        "NC_000014.9:g.61740857G=",
        "CM000676.2:g.61740857G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 62207575,
          "referenceAllele": "G",
          "start": 62207574
        }
      ],
      "hgvs": [
        "NC_000014.8:g.62207575G=",
        "CM000676.1:g.62207575G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 61277328,
          "referenceAllele": "G",
          "start": 61277327
        }
      ],
      "hgvs": [
        "NC_000014.7:g.61277328G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 50457,
          "referenceAllele": "G",
          "start": 50456
        }
      ],
      "hgvs": [
        "NG_029606.1:g.50457G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004526"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2054,
          "referenceAllele": "G",
          "start": 2053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004910",
      "geneNCBI_id": 3091,
      "geneSymbol": "HIF1A",
      "hgvs": [
        "ENST00000337138.9:c.1762G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338018.4:p.Ala588="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747636",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000337138.9:c.1762G="
          },
          "RefSeq": {
            "hgvs": "NM_001530.4:c.1762G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000338018.4:p.Ala588="
          },
          "RefSeq": {
            "hgvs": "NP_001521.1:p.Ala588="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1790,
          "referenceAllele": "G",
          "start": 1789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004910",
      "geneNCBI_id": 3091,
      "geneSymbol": "HIF1A",
      "hgvs": [
        "ENST00000323441.10:c.1762G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323326.6:p.Ala588="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258210"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2027,
          "referenceAllele": "G",
          "start": 2026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004910",
      "geneNCBI_id": 3091,
      "geneSymbol": "HIF1A",
      "hgvs": [
        "ENST00000337138.8:c.1762G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338018.4:p.Ala588="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260428"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2030,
          "referenceAllele": "G",
          "start": 2029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004910",
      "geneNCBI_id": 3091,
      "geneSymbol": "HIF1A",
      "hgvs": [
        "ENST00000394997.5:c.1765G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378446.1:p.Ala589="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276464"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2063,
          "referenceAllele": "G",
          "start": 2062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004910",
      "geneNCBI_id": 3091,
      "geneSymbol": "HIF1A",
      "hgvs": [
        "ENST00000539097.2:c.1834G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437955.1:p.Ala612="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361671"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 670,
          "referenceAllele": "G",
          "start": 669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004910",
      "geneNCBI_id": 3091,
      "geneSymbol": "HIF1A",
      "hgvs": [
        "ENST00000547430.2:n.670G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS366271"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 408,
          "referenceAllele": "G",
          "start": 407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004910",
      "geneNCBI_id": 3091,
      "geneSymbol": "HIF1A",
      "hgvs": [
        "ENST00000555014.1:n.408G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS371090"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2063,
          "referenceAllele": "G",
          "start": 2062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004910",
      "geneNCBI_id": 3091,
      "geneSymbol": "HIF1A",
      "hgvs": [
        "ENST00000557538.5:c.1585G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451696.1:p.Ala529="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373111"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2063,
          "referenceAllele": "G",
          "start": 2062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004910",
      "geneNCBI_id": 3091,
      "geneSymbol": "HIF1A",
      "hgvs": [
        "NM_001243084.1:c.1834G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001230013.1:p.Ala612="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018402"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081101030",
      "coordinates": [
        {
          "allele": "G",
          "end": 2166,
          "referenceAllele": "G",
          "start": 2165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004910",
      "geneNCBI_id": 3091,
      "geneSymbol": "HIF1A",
      "hgvs": [
        "NM_001530.3:c.1762G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001521.1:p.Ala588="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026900"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2166,
          "referenceAllele": "G",
          "start": 2165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004910",
      "geneNCBI_id": 3091,
      "geneSymbol": "HIF1A",
      "hgvs": [
        "NM_181054.2:c.1762G="
      ],
      "proteinEffect": {
        "hgvs": "NP_851397.1:p.Ala588="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043655"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 213,
          "endIntronDirection": "+",
          "endIntronOffset": 10028,
          "referenceAllele": "C",
          "start": 213,
          "startIntronDirection": "+",
          "startIntronOffset": 10027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN054284",
      "geneNCBI_id": 105370526,
      "geneSymbol": "HIF1A-AS3",
      "hgvs": [
        "XR_943925.1:n.213+10028C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS137921"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 213,
          "endIntronDirection": "+",
          "endIntronOffset": 10028,
          "referenceAllele": "C",
          "start": 213,
          "startIntronDirection": "+",
          "startIntronOffset": 10027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN054284",
      "geneNCBI_id": 105370526,
      "geneSymbol": "HIF1A-AS3",
      "hgvs": [
        "XR_943926.1:n.213+10028C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS137922"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 213,
          "endIntronDirection": "+",
          "endIntronOffset": 10028,
          "referenceAllele": "C",
          "start": 213,
          "startIntronDirection": "+",
          "startIntronOffset": 10027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN054284",
      "geneNCBI_id": 105370526,
      "geneSymbol": "HIF1A-AS3",
      "hgvs": [
        "XR_943927.1:n.213+10028C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS137923"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 213,
          "endIntronDirection": "+",
          "endIntronOffset": 10028,
          "referenceAllele": "C",
          "start": 213,
          "startIntronDirection": "+",
          "startIntronOffset": 10027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN054284",
      "geneNCBI_id": 105370526,
      "geneSymbol": "HIF1A-AS3",
      "hgvs": [
        "XR_943928.1:n.213+10028C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS137924"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 213,
          "endIntronDirection": "+",
          "endIntronOffset": 10028,
          "referenceAllele": "C",
          "start": 213,
          "startIntronDirection": "+",
          "startIntronOffset": 10027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN054284",
      "geneNCBI_id": 105370526,
      "geneSymbol": "HIF1A-AS3",
      "hgvs": [
        "XR_943929.1:n.213+10028C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS137925"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 213,
          "endIntronDirection": "+",
          "endIntronOffset": 10028,
          "referenceAllele": "C",
          "start": 213,
          "startIntronDirection": "+",
          "startIntronOffset": 10027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN054284",
      "geneNCBI_id": 105370526,
      "geneSymbol": "HIF1A-AS3",
      "hgvs": [
        "NR_144368.1:n.213+10028C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS529352"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081101030",
      "coordinates": [
        {
          "allele": "G",
          "end": 2054,
          "referenceAllele": "G",
          "start": 2053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004910",
      "geneNCBI_id": 3091,
      "geneSymbol": "HIF1A",
      "hgvs": [
        "NM_001530.4:c.1762G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001521.1:p.Ala588="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665030",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000337138.9:c.1762G="
          },
          "RefSeq": {
            "hgvs": "NM_001530.4:c.1762G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000338018.4:p.Ala588="
          },
          "RefSeq": {
            "hgvs": "NP_001521.1:p.Ala588="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2054,
          "referenceAllele": "G",
          "start": 2053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004910",
      "geneNCBI_id": 3091,
      "geneSymbol": "HIF1A",
      "hgvs": [
        "NM_181054.3:c.1762G="
      ],
      "proteinEffect": {
        "hgvs": "NP_851397.1:p.Ala588="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700909"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1973,
          "referenceAllele": "G",
          "start": 1972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004910",
      "geneNCBI_id": 3091,
      "geneSymbol": "HIF1A",
      "hgvs": [
        "NM_001243084.2:c.1834G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001230013.1:p.Ala612="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714434"
    }
  ],
  "type": "nucleotide"
}