{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA356791699",
  "communityStandardTitle": [
    "NM_001080476.3(GRXCR1):c.697G>C (p.Val233Leu)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.43032381G>C?assembly=hg19",
        "id": "chr4:g.43032381G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.43030364G>C?assembly=hg38",
        "id": "chr4:g.43030364G>C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 43030364,
          "referenceAllele": "G",
          "start": 43030363
        }
      ],
      "hgvs": [
        "NC_000004.12:g.43030364G>C",
        "CM000666.2:g.43030364G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 43032381,
          "referenceAllele": "G",
          "start": 43032380
        }
      ],
      "hgvs": [
        "NC_000004.11:g.43032381G>C",
        "CM000666.1:g.43032381G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 42727138,
          "referenceAllele": "G",
          "start": 42727137
        }
      ],
      "hgvs": [
        "NC_000004.10:g.42727138G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 142099,
          "referenceAllele": "G",
          "start": 142098
        }
      ],
      "hgvs": [
        "NG_027718.1:g.142099G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003926"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1251,
          "referenceAllele": "G",
          "start": 1250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031673",
      "geneNCBI_id": 389207,
      "geneSymbol": "GRXCR1",
      "hgvs": [
        "ENST00000399770.3:c.697G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382670.2:p.Val233Leu",
        "hgvsWellDefined": "ENSP00000382670.2:p.Val233Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753870",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000399770.3:c.697G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001080476.3:c.697G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000382670.2:p.Val233Leu"
          },
          "RefSeq": {
            "hgvs": "NP_001073945.1:p.Val233Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 697,
          "referenceAllele": "G",
          "start": 696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031673",
      "geneNCBI_id": 389207,
      "geneSymbol": "GRXCR1",
      "hgvs": [
        "ENST00000399770.2:c.697G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382670.2:p.Val233Leu",
        "hgvsWellDefined": "ENSP00000382670.2:p.Val233Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278793"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 698,
          "referenceAllele": "G",
          "start": 697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031673",
      "geneNCBI_id": 389207,
      "geneSymbol": "GRXCR1",
      "hgvs": [
        "NM_001080476.2:c.697G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073945.1:p.Val233Leu",
        "hgvsWellDefined": "NP_001073945.1:p.Val233Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010234"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 375,
          "referenceAllele": "G",
          "start": 374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031673",
      "geneNCBI_id": 389207,
      "geneSymbol": "GRXCR1",
      "hgvs": [
        "XM_011513691.1:c.334G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511993.1:p.Val112Leu",
        "hgvsWellDefined": "XP_011511993.1:p.Val112Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080923"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1251,
          "referenceAllele": "G",
          "start": 1250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031673",
      "geneNCBI_id": 389207,
      "geneSymbol": "GRXCR1",
      "hgvs": [
        "NM_001080476.3:c.697G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073945.1:p.Val233Leu",
        "hgvsWellDefined": "NP_001073945.1:p.Val233Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711824",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000399770.3:c.697G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001080476.3:c.697G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000382670.2:p.Val233Leu"
          },
          "RefSeq": {
            "hgvs": "NP_001073945.1:p.Val233Leu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}