{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA120933",
  "communityStandardTitle": [
    "NM_007325.5(GRIA3):c.2497G>A (p.Gly833Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=25395[alleleid]",
        "alleleId": 25395,
        "preferredName": "NM_007325.5(GRIA3):c.2497G>A (p.Gly833Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/10356",
        "RCV": [
          "RCV000011069"
        ],
        "variationId": 10356
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.122616707G>A?assembly=hg19",
        "id": "chrX:g.122616707G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.123482856G>A?assembly=hg38",
        "id": "chrX:g.123482856G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/137852350",
        "rs": 137852350
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 123482856,
          "referenceAllele": "G",
          "start": 123482855
        }
      ],
      "hgvs": [
        "NC_000023.11:g.123482856G>A",
        "CM000685.2:g.123482856G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 122616707,
          "referenceAllele": "G",
          "start": 122616706
        }
      ],
      "hgvs": [
        "NC_000023.10:g.122616707G>A",
        "CM000685.1:g.122616707G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 122444388,
          "referenceAllele": "G",
          "start": 122444387
        }
      ],
      "hgvs": [
        "NC_000023.9:g.122444388G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 303614,
          "referenceAllele": "G",
          "start": 303613
        }
      ],
      "hgvs": [
        "NG_009377.2:g.303614G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001579"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2755,
          "referenceAllele": "G",
          "start": 2754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004573",
      "geneNCBI_id": 2892,
      "geneSymbol": "GRIA3",
      "hgvs": [
        "ENST00000620443.2:c.2497G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478489.1:p.Gly833Arg",
        "hgvsWellDefined": "ENSP00000478489.1:p.Gly833Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762284",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000620443.2:c.2497G>A"
          },
          "RefSeq": {
            "hgvs": "NM_007325.5:c.2497G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000478489.1:p.Gly833Arg"
          },
          "RefSeq": {
            "hgvs": "NP_015564.5:p.Gly833Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2755,
          "referenceAllele": "G",
          "start": 2754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004573",
      "geneNCBI_id": 2892,
      "geneSymbol": "GRIA3",
      "hgvs": [
        "ENST00000622768.5:c.2497G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481554.1:p.Gly833Arg",
        "hgvsWellDefined": "ENSP00000481554.1:p.Gly833Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762382",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000622768.5:c.2497G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000828.5:c.2497G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000481554.1:p.Gly833Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000819.4:p.Gly833Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 134,
          "referenceAllele": "G",
          "start": 133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004573",
      "geneNCBI_id": 2892,
      "geneSymbol": "GRIA3",
      "hgvs": [
        "ENST00000460123.1:n.134G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS304932"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2550,
          "referenceAllele": "G",
          "start": 2549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004573",
      "geneNCBI_id": 2892,
      "geneSymbol": "GRIA3",
      "hgvs": [
        "ENST00000541091.5:c.2497G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446440.2:p.Gly833Arg",
        "hgvsWellDefined": "ENSP00000446440.2:p.Gly833Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362757"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2550,
          "referenceAllele": "G",
          "start": 2549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004573",
      "geneNCBI_id": 2892,
      "geneSymbol": "GRIA3",
      "hgvs": [
        "ENST00000620443.1:c.2497G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478489.1:p.Gly833Arg",
        "hgvsWellDefined": "ENSP00000478489.1:p.Gly833Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404837"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2777,
          "referenceAllele": "G",
          "start": 2776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004573",
      "geneNCBI_id": 2892,
      "geneSymbol": "GRIA3",
      "hgvs": [
        "ENST00000620581.4:c.*137G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481875.1:n.*137G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404893"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2790,
          "referenceAllele": "G",
          "start": 2789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004573",
      "geneNCBI_id": 2892,
      "geneSymbol": "GRIA3",
      "hgvs": [
        "ENST00000622768.4:c.2497G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481554.1:p.Gly833Arg",
        "hgvsWellDefined": "ENSP00000481554.1:p.Gly833Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405876"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2790,
          "referenceAllele": "G",
          "start": 2789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004573",
      "geneNCBI_id": 2892,
      "geneSymbol": "GRIA3",
      "hgvs": [
        "NM_000828.4:c.2497G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000819.3:p.Gly833Arg",
        "hgvsWellDefined": "NP_000819.3:p.Gly833Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006857"
    },
    {
      "@id": "http://reg.genome.network/allele/PA120934",
      "coordinates": [
        {
          "allele": "A",
          "end": 2790,
          "referenceAllele": "G",
          "start": 2789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004573",
      "geneNCBI_id": 2892,
      "geneSymbol": "GRIA3",
      "hgvs": [
        "NM_007325.4:c.2497G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_015564.4:p.Gly833Arg",
        "hgvsWellDefined": "NP_015564.4:p.Gly833Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032228"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916000929",
      "coordinates": [
        {
          "allele": "A",
          "end": 2755,
          "referenceAllele": "G",
          "start": 2754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004573",
      "geneNCBI_id": 2892,
      "geneSymbol": "GRIA3",
      "hgvs": [
        "NM_007325.5:c.2497G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_015564.5:p.Gly833Arg",
        "hgvsWellDefined": "NP_015564.5:p.Gly833Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696972",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000620443.2:c.2497G>A"
          },
          "RefSeq": {
            "hgvs": "NM_007325.5:c.2497G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000478489.1:p.Gly833Arg"
          },
          "RefSeq": {
            "hgvs": "NP_015564.5:p.Gly833Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825231302",
      "coordinates": [
        {
          "allele": "A",
          "end": 2755,
          "referenceAllele": "G",
          "start": 2754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004573",
      "geneNCBI_id": 2892,
      "geneSymbol": "GRIA3",
      "hgvs": [
        "NM_000828.5:c.2497G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000819.4:p.Gly833Arg",
        "hgvsWellDefined": "NP_000819.4:p.Gly833Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710877",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000622768.5:c.2497G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000828.5:c.2497G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000481554.1:p.Gly833Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000819.4:p.Gly833Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}