{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10586389",
  "communityStandardTitle": [
    "NM_000814.6(GABRB3):c.745C>A (p.Gln249Lys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=248796[alleleid]",
        "alleleId": 248796,
        "preferredName": "NM_000814.6(GABRB3):c.745C>A (p.Gln249Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/254263",
        "RCV": [
          "RCV000240922"
        ],
        "variationId": 254263
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.26812818G>T?assembly=hg19",
        "id": "chr15:g.26812818G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.26567671G>T?assembly=hg38",
        "id": "chr15:g.26567671G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/886037940",
        "rs": 886037940
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 26567671,
          "referenceAllele": "G",
          "start": 26567670
        }
      ],
      "hgvs": [
        "NC_000015.10:g.26567671G>T",
        "CM000677.2:g.26567671G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 26812818,
          "referenceAllele": "G",
          "start": 26812817
        }
      ],
      "hgvs": [
        "NC_000015.9:g.26812818G>T",
        "CM000677.1:g.26812818G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 24363911,
          "referenceAllele": "G",
          "start": 24363910
        }
      ],
      "hgvs": [
        "NC_000015.8:g.24363911G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 211110,
          "referenceAllele": "C",
          "start": 211109
        }
      ],
      "hgvs": [
        "NG_012836.1:g.211110C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002569"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 784,
          "referenceAllele": "C",
          "start": 783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "ENST00000299267.9:c.745C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299267.4:p.Gln249Lys",
        "hgvsWellDefined": "ENSP00000299267.4:p.Gln249Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904352"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 849,
          "referenceAllele": "C",
          "start": 848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "ENST00000311550.10:c.745C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000308725.5:p.Gln249Lys",
        "hgvsWellDefined": "ENSP00000308725.5:p.Gln249Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745727",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311550.10:c.745C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000814.6:c.745C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000308725.5:p.Gln249Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000805.1:p.Gln249Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 788,
          "referenceAllele": "C",
          "start": 787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "ENST00000635832.1:n.788C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762670"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 428,
          "referenceAllele": "C",
          "start": 427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "ENST00000635994.1:c.428C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762791"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 837,
          "referenceAllele": "C",
          "start": 836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "ENST00000636466.1:c.490C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489768.1:p.Gln164Lys",
        "hgvsWellDefined": "ENSP00000489768.1:p.Gln164Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763135"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 726,
          "referenceAllele": "C",
          "start": 725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "ENST00000638099.1:c.646C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490678.1:p.Gln216Lys",
        "hgvsWellDefined": "ENSP00000490678.1:p.Gln216Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764341"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 94,
          "referenceAllele": "C",
          "start": 93
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "ENST00000638149.1:n.94C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764379"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 809,
          "referenceAllele": "C",
          "start": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "ENST00000299267.8:c.745C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299267.4:p.Gln249Lys",
        "hgvsWellDefined": "ENSP00000299267.4:p.Gln249Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254695"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 857,
          "referenceAllele": "C",
          "start": 856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "ENST00000311550.9:c.745C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000308725.5:p.Gln249Lys",
        "hgvsWellDefined": "ENSP00000308725.5:p.Gln249Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256546"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 619,
          "referenceAllele": "C",
          "start": 618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "ENST00000400188.7:c.532C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383049.3:p.Gln178Lys",
        "hgvsWellDefined": "ENSP00000383049.3:p.Gln178Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278946"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1016,
          "referenceAllele": "C",
          "start": 1015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "ENST00000541819.6:c.913C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442408.2:p.Gln305Lys",
        "hgvsWellDefined": "ENSP00000442408.2:p.Gln305Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363132"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 590,
          "referenceAllele": "C",
          "start": 589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "ENST00000545868.4:c.490C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439169.1:p.Gln164Lys",
        "hgvsWellDefined": "ENSP00000439169.1:p.Gln164Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365327"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 619,
          "referenceAllele": "C",
          "start": 618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "ENST00000554556.5:c.*206C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451077.1:n.*206C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS370728"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 657,
          "referenceAllele": "C",
          "start": 656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "ENST00000555094.5:n.657C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS371159"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 893,
          "referenceAllele": "C",
          "start": 892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "ENST00000555632.5:c.*577C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452041.1:n.*577C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS371591"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 416,
          "referenceAllele": "C",
          "start": 415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "ENST00000557765.1:n.416C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS373291"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 955,
          "referenceAllele": "C",
          "start": 954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "ENST00000622697.4:c.490C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481004.1:p.Gln164Lys",
        "hgvsWellDefined": "ENSP00000481004.1:p.Gln164Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405840"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 657,
          "referenceAllele": "C",
          "start": 656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "ENST00000628124.2:c.490C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486819.1:p.Gln164Lys",
        "hgvsWellDefined": "ENSP00000486819.1:p.Gln164Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406996"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825225631",
      "coordinates": [
        {
          "allele": "A",
          "end": 859,
          "referenceAllele": "C",
          "start": 858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "NM_000814.5:c.745C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000805.1:p.Gln249Lys",
        "hgvsWellDefined": "NP_000805.1:p.Gln249Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006843"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826171960",
      "coordinates": [
        {
          "allele": "A",
          "end": 657,
          "referenceAllele": "C",
          "start": 656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "NM_001191320.1:c.490C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001178249.1:p.Gln164Lys",
        "hgvsWellDefined": "NP_001178249.1:p.Gln164Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016311"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826172238",
      "coordinates": [
        {
          "allele": "A",
          "end": 707,
          "referenceAllele": "C",
          "start": 706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "NM_001191321.2:c.532C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001178250.1:p.Gln178Lys",
        "hgvsWellDefined": "NP_001178250.1:p.Gln178Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016312"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826610803",
      "coordinates": [
        {
          "allele": "A",
          "end": 955,
          "referenceAllele": "C",
          "start": 954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "NM_001278631.1:c.490C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265560.1:p.Gln164Lys",
        "hgvsWellDefined": "NP_001265560.1:p.Gln164Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021425"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645396974",
      "coordinates": [
        {
          "allele": "A",
          "end": 809,
          "referenceAllele": "C",
          "start": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "NM_021912.4:c.745C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_068712.1:p.Gln249Lys",
        "hgvsWellDefined": "NP_068712.1:p.Gln249Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037068"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 839,
          "referenceAllele": "C",
          "start": 838
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "XM_011521428.1:c.568C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519730.1:p.Gln190Lys",
        "hgvsWellDefined": "XP_011519730.1:p.Gln190Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088589"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 843,
          "referenceAllele": "C",
          "start": 842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "XM_011521428.3:c.568C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519730.1:p.Gln190Lys",
        "hgvsWellDefined": "XP_011519730.1:p.Gln190Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546146"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825225631",
      "coordinates": [
        {
          "allele": "A",
          "end": 849,
          "referenceAllele": "C",
          "start": 848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "NM_000814.6:c.745C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000805.1:p.Gln249Lys",
        "hgvsWellDefined": "NP_000805.1:p.Gln249Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662596",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311550.10:c.745C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000814.6:c.745C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000308725.5:p.Gln249Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000805.1:p.Gln249Lys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826172238",
      "coordinates": [
        {
          "allele": "A",
          "end": 619,
          "referenceAllele": "C",
          "start": 618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "NM_001191321.3:c.532C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001178250.1:p.Gln178Lys",
        "hgvsWellDefined": "NP_001178250.1:p.Gln178Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679175"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645396974",
      "coordinates": [
        {
          "allele": "A",
          "end": 784,
          "referenceAllele": "C",
          "start": 783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "NM_021912.5:c.745C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_068712.1:p.Gln249Lys",
        "hgvsWellDefined": "NP_068712.1:p.Gln249Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698461"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826171960",
      "coordinates": [
        {
          "allele": "A",
          "end": 657,
          "referenceAllele": "C",
          "start": 656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "NM_001191320.2:c.490C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001178249.1:p.Gln164Lys",
        "hgvsWellDefined": "NP_001178249.1:p.Gln164Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713718"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826610803",
      "coordinates": [
        {
          "allele": "A",
          "end": 945,
          "referenceAllele": "C",
          "start": 944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "NM_001278631.2:c.490C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265560.1:p.Gln164Lys",
        "hgvsWellDefined": "NP_001265560.1:p.Gln164Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715617"
    }
  ],
  "type": "nucleotide"
}