{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA314682",
  "communityStandardTitle": [
    "NM_001127644.2(GABRA1):c.891C>G (p.Ser297Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=201866[alleleid]",
        "alleleId": 201866,
        "preferredName": "NM_001127644.2(GABRA1):c.891C>G (p.Ser297Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/205526",
        "RCV": [
          "RCV000187505"
        ],
        "variationId": 205526
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.161322706C>G?assembly=hg19",
        "id": "chr5:g.161322706C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.161895700C>G?assembly=hg38",
        "id": "chr5:g.161895700C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/796052497",
        "rs": 796052497
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 161895700,
          "referenceAllele": "C",
          "start": 161895699
        }
      ],
      "hgvs": [
        "NC_000005.10:g.161895700C>G",
        "CM000667.2:g.161895700C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 161322706,
          "referenceAllele": "C",
          "start": 161322705
        }
      ],
      "hgvs": [
        "NC_000005.9:g.161322706C>G",
        "CM000667.1:g.161322706C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 161255284,
          "referenceAllele": "C",
          "start": 161255283
        }
      ],
      "hgvs": [
        "NC_000005.8:g.161255284C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 53510,
          "referenceAllele": "C",
          "start": 53509
        }
      ],
      "hgvs": [
        "NG_011548.1:g.53510C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001809"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1209,
          "referenceAllele": "C",
          "start": 1208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004075",
      "geneNCBI_id": 2554,
      "geneSymbol": "GABRA1",
      "hgvs": [
        "ENST00000393943.10:c.891C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377517.4:p.Ser297Arg",
        "hgvsWellDefined": "ENSP00000377517.4:p.Ser297Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753191",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393943.10:c.891C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001127644.2:c.891C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377517.4:p.Ser297Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001121116.1:p.Ser297Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 990,
          "referenceAllele": "C",
          "start": 989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004075",
      "geneNCBI_id": 2554,
      "geneSymbol": "GABRA1",
      "hgvs": [
        "ENST00000635880.1:c.891C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489738.1:p.Ser297Arg",
        "hgvsWellDefined": "ENSP00000489738.1:p.Ser297Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762706"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2492,
          "referenceAllele": "C",
          "start": 2491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004075",
      "geneNCBI_id": 2554,
      "geneSymbol": "GABRA1",
      "hgvs": [
        "ENST00000635916.2:n.2492C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762733"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1057,
          "referenceAllele": "C",
          "start": 1056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004075",
      "geneNCBI_id": 2554,
      "geneSymbol": "GABRA1",
      "hgvs": [
        "ENST00000636340.1:c.*740C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490002.1:n.*740C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763045"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 695,
          "referenceAllele": "C",
          "start": 694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004075",
      "geneNCBI_id": 2554,
      "geneSymbol": "GABRA1",
      "hgvs": [
        "ENST00000636408.1:n.695C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763092"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1026,
          "referenceAllele": "C",
          "start": 1025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004075",
      "geneNCBI_id": 2554,
      "geneSymbol": "GABRA1",
      "hgvs": [
        "ENST00000636573.1:c.891C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490320.1:p.Ser297Arg",
        "hgvsWellDefined": "ENSP00000490320.1:p.Ser297Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763217"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1121,
          "referenceAllele": "C",
          "start": 1120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004075",
      "geneNCBI_id": 2554,
      "geneSymbol": "GABRA1",
      "hgvs": [
        "ENST00000637044.1:c.*665C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490684.1:n.*665C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763569"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1118,
          "referenceAllele": "C",
          "start": 1117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004075",
      "geneNCBI_id": 2554,
      "geneSymbol": "GABRA1",
      "hgvs": [
        "ENST00000637827.1:c.891C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490804.1:p.Ser297Arg",
        "hgvsWellDefined": "ENSP00000490804.1:p.Ser297Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764139"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1542,
          "referenceAllele": "C",
          "start": 1541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004075",
      "geneNCBI_id": 2554,
      "geneSymbol": "GABRA1",
      "hgvs": [
        "ENST00000638112.1:c.891C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489839.1:p.Ser297Arg",
        "hgvsWellDefined": "ENSP00000489839.1:p.Ser297Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764347"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1089,
          "referenceAllele": "C",
          "start": 1088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004075",
      "geneNCBI_id": 2554,
      "geneSymbol": "GABRA1",
      "hgvs": [
        "ENST00000638159.1:c.936C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490360.1:p.Ser312Arg",
        "hgvsWellDefined": "ENSP00000490360.1:p.Ser312Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764389"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1359,
          "referenceAllele": "C",
          "start": 1358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004075",
      "geneNCBI_id": 2554,
      "geneSymbol": "GABRA1",
      "hgvs": [
        "ENST00000023897.10:c.891C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000023897.6:p.Ser297Arg",
        "hgvsWellDefined": "ENSP00000023897.6:p.Ser297Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247521"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1674,
          "referenceAllele": "C",
          "start": 1673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004075",
      "geneNCBI_id": 2554,
      "geneSymbol": "GABRA1",
      "hgvs": [
        "ENST00000393943.9:c.891C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377517.4:p.Ser297Arg",
        "hgvsWellDefined": "ENSP00000377517.4:p.Ser297Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275890"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1246,
          "referenceAllele": "C",
          "start": 1245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004075",
      "geneNCBI_id": 2554,
      "geneSymbol": "GABRA1",
      "hgvs": [
        "ENST00000428797.7:c.891C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393097.2:p.Ser297Arg",
        "hgvsWellDefined": "ENSP00000393097.2:p.Ser297Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290364"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1075,
          "referenceAllele": "C",
          "start": 1074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004075",
      "geneNCBI_id": 2554,
      "geneSymbol": "GABRA1",
      "hgvs": [
        "ENST00000437025.6:c.891C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415441.2:p.Ser297Arg",
        "hgvsWellDefined": "ENSP00000415441.2:p.Ser297Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294263"
    },
    {
      "@id": "http://reg.genome.network/allele/PA314683",
      "coordinates": [
        {
          "allele": "G",
          "end": 1359,
          "referenceAllele": "C",
          "start": 1358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004075",
      "geneNCBI_id": 2554,
      "geneSymbol": "GABRA1",
      "hgvs": [
        "NM_000806.5:c.891C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000797.2:p.Ser297Arg",
        "hgvsWellDefined": "NP_000797.2:p.Ser297Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006835"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825647375",
      "coordinates": [
        {
          "allele": "G",
          "end": 1246,
          "referenceAllele": "C",
          "start": 1245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004075",
      "geneNCBI_id": 2554,
      "geneSymbol": "GABRA1",
      "hgvs": [
        "NM_001127643.1:c.891C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121115.1:p.Ser297Arg",
        "hgvsWellDefined": "NP_001121115.1:p.Ser297Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011656"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825647777",
      "coordinates": [
        {
          "allele": "G",
          "end": 1395,
          "referenceAllele": "C",
          "start": 1394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004075",
      "geneNCBI_id": 2554,
      "geneSymbol": "GABRA1",
      "hgvs": [
        "NM_001127644.1:c.891C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121116.1:p.Ser297Arg",
        "hgvsWellDefined": "NP_001121116.1:p.Ser297Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011657"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825648178",
      "coordinates": [
        {
          "allele": "G",
          "end": 983,
          "referenceAllele": "C",
          "start": 982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004075",
      "geneNCBI_id": 2554,
      "geneSymbol": "GABRA1",
      "hgvs": [
        "NM_001127645.1:c.891C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121117.1:p.Ser297Arg",
        "hgvsWellDefined": "NP_001121117.1:p.Ser297Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011658"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915967979",
      "coordinates": [
        {
          "allele": "G",
          "end": 1005,
          "referenceAllele": "C",
          "start": 1004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004075",
      "geneNCBI_id": 2554,
      "geneSymbol": "GABRA1",
      "hgvs": [
        "NM_001127648.1:c.891C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121120.1:p.Ser297Arg",
        "hgvsWellDefined": "NP_001121120.1:p.Ser297Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011659"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825647777",
      "coordinates": [
        {
          "allele": "G",
          "end": 1209,
          "referenceAllele": "C",
          "start": 1208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004075",
      "geneNCBI_id": 2554,
      "geneSymbol": "GABRA1",
      "hgvs": [
        "NM_001127644.2:c.891C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121116.1:p.Ser297Arg",
        "hgvsWellDefined": "NP_001121116.1:p.Ser297Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663552",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393943.10:c.891C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001127644.2:c.891C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377517.4:p.Ser297Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001121116.1:p.Ser297Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825647375",
      "coordinates": [
        {
          "allele": "G",
          "end": 1194,
          "referenceAllele": "C",
          "start": 1193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004075",
      "geneNCBI_id": 2554,
      "geneSymbol": "GABRA1",
      "hgvs": [
        "NM_001127643.2:c.891C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121115.1:p.Ser297Arg",
        "hgvsWellDefined": "NP_001121115.1:p.Ser297Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676918"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825648178",
      "coordinates": [
        {
          "allele": "G",
          "end": 963,
          "referenceAllele": "C",
          "start": 962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004075",
      "geneNCBI_id": 2554,
      "geneSymbol": "GABRA1",
      "hgvs": [
        "NM_001127645.2:c.891C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121117.1:p.Ser297Arg",
        "hgvsWellDefined": "NP_001121117.1:p.Ser297Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676919"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915967979",
      "coordinates": [
        {
          "allele": "G",
          "end": 977,
          "referenceAllele": "C",
          "start": 976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004075",
      "geneNCBI_id": 2554,
      "geneSymbol": "GABRA1",
      "hgvs": [
        "NM_001127648.2:c.891C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121120.1:p.Ser297Arg",
        "hgvsWellDefined": "NP_001121120.1:p.Ser297Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676920"
    }
  ],
  "type": "nucleotide"
}