{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA447609290",
  "communityStandardTitle": [
    "NM_001127644.2(GABRA1):c.702A>G (p.Thr234=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1402011[alleleid]",
        "alleleId": 1402011,
        "preferredName": "NM_001127644.2(GABRA1):c.702A>G (p.Thr234=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1501263",
        "RCV": [
          "RCV002042766"
        ],
        "variationId": 1501263
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.161309706A>G?assembly=hg19",
        "id": "chr5:g.161309706A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.161882700A>G?assembly=hg38",
        "id": "chr5:g.161882700A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1392262946",
        "rs": 1392262946
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-161309706-A-G?dataset=gnomad_r2_1",
        "id": "5-161309706-A-G",
        "variant": "5:161309706 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-161882700-A-G?dataset=gnomad_r3",
        "id": "5-161882700-A-G",
        "variant": "5:161882700 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-161882700-A-G?dataset=gnomad_r4",
        "id": "5-161882700-A-G",
        "variant": "5:161882700 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 161882700,
          "referenceAllele": "A",
          "start": 161882699
        }
      ],
      "hgvs": [
        "NC_000005.10:g.161882700A>G",
        "CM000667.2:g.161882700A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 161309706,
          "referenceAllele": "A",
          "start": 161309705
        }
      ],
      "hgvs": [
        "NC_000005.9:g.161309706A>G",
        "CM000667.1:g.161309706A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 161242284,
          "referenceAllele": "A",
          "start": 161242283
        }
      ],
      "hgvs": [
        "NC_000005.8:g.161242284A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 40510,
          "referenceAllele": "A",
          "start": 40509
        }
      ],
      "hgvs": [
        "NG_011548.1:g.40510A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001809"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1020,
          "referenceAllele": "A",
          "start": 1019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004075",
      "geneNCBI_id": 2554,
      "geneSymbol": "GABRA1",
      "hgvs": [
        "ENST00000393943.10:c.702A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377517.4:p.Thr234="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753191",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393943.10:c.702A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001127644.2:c.702A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377517.4:p.Thr234="
          },
          "RefSeq": {
            "hgvs": "NP_001121116.1:p.Thr234="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 801,
          "referenceAllele": "A",
          "start": 800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004075",
      "geneNCBI_id": 2554,
      "geneSymbol": "GABRA1",
      "hgvs": [
        "ENST00000635880.1:c.702A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489738.1:p.Thr234="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762706"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2303,
          "referenceAllele": "A",
          "start": 2302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004075",
      "geneNCBI_id": 2554,
      "geneSymbol": "GABRA1",
      "hgvs": [
        "ENST00000635916.2:n.2303A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762733"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 868,
          "referenceAllele": "A",
          "start": 867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004075",
      "geneNCBI_id": 2554,
      "geneSymbol": "GABRA1",
      "hgvs": [
        "ENST00000636340.1:c.*551A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490002.1:n.*551A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763045"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 506,
          "referenceAllele": "A",
          "start": 505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004075",
      "geneNCBI_id": 2554,
      "geneSymbol": "GABRA1",
      "hgvs": [
        "ENST00000636408.1:n.506A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763092"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 837,
          "referenceAllele": "A",
          "start": 836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004075",
      "geneNCBI_id": 2554,
      "geneSymbol": "GABRA1",
      "hgvs": [
        "ENST00000636573.1:c.702A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490320.1:p.Thr234="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763217"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 932,
          "referenceAllele": "A",
          "start": 931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004075",
      "geneNCBI_id": 2554,
      "geneSymbol": "GABRA1",
      "hgvs": [
        "ENST00000637044.1:c.*476A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490684.1:n.*476A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763569"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 929,
          "referenceAllele": "A",
          "start": 928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004075",
      "geneNCBI_id": 2554,
      "geneSymbol": "GABRA1",
      "hgvs": [
        "ENST00000637827.1:c.702A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490804.1:p.Thr234="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764139"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1353,
          "referenceAllele": "A",
          "start": 1352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004075",
      "geneNCBI_id": 2554,
      "geneSymbol": "GABRA1",
      "hgvs": [
        "ENST00000638112.1:c.702A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489839.1:p.Thr234="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764347"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 900,
          "referenceAllele": "A",
          "start": 899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004075",
      "geneNCBI_id": 2554,
      "geneSymbol": "GABRA1",
      "hgvs": [
        "ENST00000638159.1:c.747A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490360.1:p.Thr249="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764389"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1170,
          "referenceAllele": "A",
          "start": 1169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004075",
      "geneNCBI_id": 2554,
      "geneSymbol": "GABRA1",
      "hgvs": [
        "ENST00000023897.10:c.702A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000023897.6:p.Thr234="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247521"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1485,
          "referenceAllele": "A",
          "start": 1484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004075",
      "geneNCBI_id": 2554,
      "geneSymbol": "GABRA1",
      "hgvs": [
        "ENST00000393943.9:c.702A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377517.4:p.Thr234="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275890"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1057,
          "referenceAllele": "A",
          "start": 1056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004075",
      "geneNCBI_id": 2554,
      "geneSymbol": "GABRA1",
      "hgvs": [
        "ENST00000428797.7:c.702A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393097.2:p.Thr234="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290364"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 886,
          "referenceAllele": "A",
          "start": 885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004075",
      "geneNCBI_id": 2554,
      "geneSymbol": "GABRA1",
      "hgvs": [
        "ENST00000437025.6:c.702A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415441.2:p.Thr234="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294263"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 466,
          "referenceAllele": "A",
          "start": 465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004075",
      "geneNCBI_id": 2554,
      "geneSymbol": "GABRA1",
      "hgvs": [
        "ENST00000519542.1:n.466A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS346767"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 916,
          "referenceAllele": "A",
          "start": 915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004075",
      "geneNCBI_id": 2554,
      "geneSymbol": "GABRA1",
      "hgvs": [
        "ENST00000634335.1:c.702A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489434.1:p.Thr234="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407779"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825220644",
      "coordinates": [
        {
          "allele": "G",
          "end": 1170,
          "referenceAllele": "A",
          "start": 1169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004075",
      "geneNCBI_id": 2554,
      "geneSymbol": "GABRA1",
      "hgvs": [
        "NM_000806.5:c.702A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000797.2:p.Thr234="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006835"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825647308",
      "coordinates": [
        {
          "allele": "G",
          "end": 1057,
          "referenceAllele": "A",
          "start": 1056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004075",
      "geneNCBI_id": 2554,
      "geneSymbol": "GABRA1",
      "hgvs": [
        "NM_001127643.1:c.702A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121115.1:p.Thr234="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011656"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825647710",
      "coordinates": [
        {
          "allele": "G",
          "end": 1206,
          "referenceAllele": "A",
          "start": 1205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004075",
      "geneNCBI_id": 2554,
      "geneSymbol": "GABRA1",
      "hgvs": [
        "NM_001127644.1:c.702A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121116.1:p.Thr234="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011657"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825648112",
      "coordinates": [
        {
          "allele": "G",
          "end": 794,
          "referenceAllele": "A",
          "start": 793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004075",
      "geneNCBI_id": 2554,
      "geneSymbol": "GABRA1",
      "hgvs": [
        "NM_001127645.1:c.702A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121117.1:p.Thr234="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011658"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825648380",
      "coordinates": [
        {
          "allele": "G",
          "end": 816,
          "referenceAllele": "A",
          "start": 815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004075",
      "geneNCBI_id": 2554,
      "geneSymbol": "GABRA1",
      "hgvs": [
        "NM_001127648.1:c.702A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121120.1:p.Thr234="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011659"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825647710",
      "coordinates": [
        {
          "allele": "G",
          "end": 1020,
          "referenceAllele": "A",
          "start": 1019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004075",
      "geneNCBI_id": 2554,
      "geneSymbol": "GABRA1",
      "hgvs": [
        "NM_001127644.2:c.702A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121116.1:p.Thr234="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663552",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393943.10:c.702A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001127644.2:c.702A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377517.4:p.Thr234="
          },
          "RefSeq": {
            "hgvs": "NP_001121116.1:p.Thr234="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825647308",
      "coordinates": [
        {
          "allele": "G",
          "end": 1005,
          "referenceAllele": "A",
          "start": 1004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004075",
      "geneNCBI_id": 2554,
      "geneSymbol": "GABRA1",
      "hgvs": [
        "NM_001127643.2:c.702A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121115.1:p.Thr234="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676918"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825648112",
      "coordinates": [
        {
          "allele": "G",
          "end": 774,
          "referenceAllele": "A",
          "start": 773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004075",
      "geneNCBI_id": 2554,
      "geneSymbol": "GABRA1",
      "hgvs": [
        "NM_001127645.2:c.702A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121117.1:p.Thr234="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676919"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825648380",
      "coordinates": [
        {
          "allele": "G",
          "end": 788,
          "referenceAllele": "A",
          "start": 787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004075",
      "geneNCBI_id": 2554,
      "geneSymbol": "GABRA1",
      "hgvs": [
        "NM_001127648.2:c.702A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121120.1:p.Thr234="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676920"
    }
  ],
  "type": "nucleotide"
}