{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2980005632",
  "communityStandardTitle": [
    "NM_001080476.3(GRXCR1):c.694-79A>G"
  ],
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 43030282,
          "referenceAllele": "A",
          "start": 43030281
        }
      ],
      "hgvs": [
        "NC_000004.12:g.43030282A>G",
        "CM000666.2:g.43030282A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 43032299,
          "referenceAllele": "A",
          "start": 43032298
        }
      ],
      "hgvs": [
        "NC_000004.11:g.43032299A>G",
        "CM000666.1:g.43032299A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 42727056,
          "referenceAllele": "A",
          "start": 42727055
        }
      ],
      "hgvs": [
        "NC_000004.10:g.42727056A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 142017,
          "referenceAllele": "A",
          "start": 142016
        }
      ],
      "hgvs": [
        "NG_027718.1:g.142017A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003926"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1247,
          "endIntronDirection": "-",
          "endIntronOffset": 78,
          "referenceAllele": "A",
          "start": 1247,
          "startIntronDirection": "-",
          "startIntronOffset": 79
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031673",
      "geneNCBI_id": 389207,
      "geneSymbol": "GRXCR1",
      "hgvs": [
        "ENST00000399770.3:c.694-79A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382670.2:n.694-79A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753870",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000399770.3:c.694-79A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001080476.3:c.694-79A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000382670.2:n.694-79A>G"
          },
          "RefSeq": {
            "hgvs": "NP_001073945.1:n.694-79A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 693,
          "endIntronDirection": "-",
          "endIntronOffset": 78,
          "referenceAllele": "A",
          "start": 693,
          "startIntronDirection": "-",
          "startIntronOffset": 79
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031673",
      "geneNCBI_id": 389207,
      "geneSymbol": "GRXCR1",
      "hgvs": [
        "ENST00000399770.2:c.694-79A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382670.2:n.694-79A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278793"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 694,
          "endIntronDirection": "-",
          "endIntronOffset": 78,
          "referenceAllele": "A",
          "start": 694,
          "startIntronDirection": "-",
          "startIntronOffset": 79
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031673",
      "geneNCBI_id": 389207,
      "geneSymbol": "GRXCR1",
      "hgvs": [
        "NM_001080476.2:c.694-79A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073945.1:n.694-79A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010234"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 371,
          "endIntronDirection": "-",
          "endIntronOffset": 78,
          "referenceAllele": "A",
          "start": 371,
          "startIntronDirection": "-",
          "startIntronOffset": 79
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031673",
      "geneNCBI_id": 389207,
      "geneSymbol": "GRXCR1",
      "hgvs": [
        "XM_011513691.1:c.331-79A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511993.1:n.331-79A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080923"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1247,
          "endIntronDirection": "-",
          "endIntronOffset": 78,
          "referenceAllele": "A",
          "start": 1247,
          "startIntronDirection": "-",
          "startIntronOffset": 79
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031673",
      "geneNCBI_id": 389207,
      "geneSymbol": "GRXCR1",
      "hgvs": [
        "NM_001080476.3:c.694-79A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073945.1:n.694-79A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711824",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000399770.3:c.694-79A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001080476.3:c.694-79A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000382670.2:n.694-79A>G"
          },
          "RefSeq": {
            "hgvs": "NP_001073945.1:n.694-79A>G"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}