{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10588397",
  "communityStandardTitle": [
    "NM_001127644.2(GABRA1):c.640C>T (p.Arg214Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=259817[alleleid]",
        "alleleId": 259817,
        "preferredName": "NM_001127644.2(GABRA1):c.640C>T (p.Arg214Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/265161",
        "RCV": [
          "RCV000255903",
          "RCV000678794",
          "RCV000817598",
          "RCV002500957",
          "RCV003137868"
        ],
        "variationId": 265161
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.161309644C>T?assembly=hg19",
        "id": "chr5:g.161309644C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.161882638C>T?assembly=hg38",
        "id": "chr5:g.161882638C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/727503940",
        "rs": 727503940
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 161882638,
          "referenceAllele": "C",
          "start": 161882637
        }
      ],
      "hgvs": [
        "NC_000005.10:g.161882638C>T",
        "CM000667.2:g.161882638C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 161309644,
          "referenceAllele": "C",
          "start": 161309643
        }
      ],
      "hgvs": [
        "NC_000005.9:g.161309644C>T",
        "CM000667.1:g.161309644C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 161242222,
          "referenceAllele": "C",
          "start": 161242221
        }
      ],
      "hgvs": [
        "NC_000005.8:g.161242222C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 40448,
          "referenceAllele": "C",
          "start": 40447
        }
      ],
      "hgvs": [
        "NG_011548.1:g.40448C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001809"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 958,
          "referenceAllele": "C",
          "start": 957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004075",
      "geneNCBI_id": 2554,
      "geneSymbol": "GABRA1",
      "hgvs": [
        "ENST00000393943.10:c.640C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377517.4:p.Arg214Cys",
        "hgvsWellDefined": "ENSP00000377517.4:p.Arg214Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753191",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393943.10:c.640C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001127644.2:c.640C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377517.4:p.Arg214Cys"
          },
          "RefSeq": {
            "hgvs": "NP_001121116.1:p.Arg214Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 739,
          "referenceAllele": "C",
          "start": 738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004075",
      "geneNCBI_id": 2554,
      "geneSymbol": "GABRA1",
      "hgvs": [
        "ENST00000635880.1:c.640C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489738.1:p.Arg214Cys",
        "hgvsWellDefined": "ENSP00000489738.1:p.Arg214Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762706"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2241,
          "referenceAllele": "C",
          "start": 2240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004075",
      "geneNCBI_id": 2554,
      "geneSymbol": "GABRA1",
      "hgvs": [
        "ENST00000635916.2:n.2241C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762733"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 806,
          "referenceAllele": "C",
          "start": 805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004075",
      "geneNCBI_id": 2554,
      "geneSymbol": "GABRA1",
      "hgvs": [
        "ENST00000636340.1:c.*489C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490002.1:n.*489C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763045"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 444,
          "referenceAllele": "C",
          "start": 443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004075",
      "geneNCBI_id": 2554,
      "geneSymbol": "GABRA1",
      "hgvs": [
        "ENST00000636408.1:n.444C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763092"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 775,
          "referenceAllele": "C",
          "start": 774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004075",
      "geneNCBI_id": 2554,
      "geneSymbol": "GABRA1",
      "hgvs": [
        "ENST00000636573.1:c.640C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490320.1:p.Arg214Cys",
        "hgvsWellDefined": "ENSP00000490320.1:p.Arg214Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763217"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 870,
          "referenceAllele": "C",
          "start": 869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004075",
      "geneNCBI_id": 2554,
      "geneSymbol": "GABRA1",
      "hgvs": [
        "ENST00000637044.1:c.*414C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490684.1:n.*414C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763569"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 867,
          "referenceAllele": "C",
          "start": 866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004075",
      "geneNCBI_id": 2554,
      "geneSymbol": "GABRA1",
      "hgvs": [
        "ENST00000637827.1:c.640C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490804.1:p.Arg214Cys",
        "hgvsWellDefined": "ENSP00000490804.1:p.Arg214Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764139"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1291,
          "referenceAllele": "C",
          "start": 1290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004075",
      "geneNCBI_id": 2554,
      "geneSymbol": "GABRA1",
      "hgvs": [
        "ENST00000638112.1:c.640C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489839.1:p.Arg214Cys",
        "hgvsWellDefined": "ENSP00000489839.1:p.Arg214Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764347"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 838,
          "referenceAllele": "C",
          "start": 837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004075",
      "geneNCBI_id": 2554,
      "geneSymbol": "GABRA1",
      "hgvs": [
        "ENST00000638159.1:c.685C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490360.1:p.Arg229Cys",
        "hgvsWellDefined": "ENSP00000490360.1:p.Arg229Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764389"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1108,
          "referenceAllele": "C",
          "start": 1107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004075",
      "geneNCBI_id": 2554,
      "geneSymbol": "GABRA1",
      "hgvs": [
        "ENST00000023897.10:c.640C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000023897.6:p.Arg214Cys",
        "hgvsWellDefined": "ENSP00000023897.6:p.Arg214Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247521"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1423,
          "referenceAllele": "C",
          "start": 1422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004075",
      "geneNCBI_id": 2554,
      "geneSymbol": "GABRA1",
      "hgvs": [
        "ENST00000393943.9:c.640C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377517.4:p.Arg214Cys",
        "hgvsWellDefined": "ENSP00000377517.4:p.Arg214Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275890"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 995,
          "referenceAllele": "C",
          "start": 994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004075",
      "geneNCBI_id": 2554,
      "geneSymbol": "GABRA1",
      "hgvs": [
        "ENST00000428797.7:c.640C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393097.2:p.Arg214Cys",
        "hgvsWellDefined": "ENSP00000393097.2:p.Arg214Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290364"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 824,
          "referenceAllele": "C",
          "start": 823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004075",
      "geneNCBI_id": 2554,
      "geneSymbol": "GABRA1",
      "hgvs": [
        "ENST00000437025.6:c.640C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415441.2:p.Arg214Cys",
        "hgvsWellDefined": "ENSP00000415441.2:p.Arg214Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294263"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 404,
          "referenceAllele": "C",
          "start": 403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004075",
      "geneNCBI_id": 2554,
      "geneSymbol": "GABRA1",
      "hgvs": [
        "ENST00000519542.1:n.404C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS346767"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 854,
          "referenceAllele": "C",
          "start": 853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004075",
      "geneNCBI_id": 2554,
      "geneSymbol": "GABRA1",
      "hgvs": [
        "ENST00000634335.1:c.640C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489434.1:p.Arg214Cys",
        "hgvsWellDefined": "ENSP00000489434.1:p.Arg214Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407779"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645466533",
      "coordinates": [
        {
          "allele": "T",
          "end": 1108,
          "referenceAllele": "C",
          "start": 1107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004075",
      "geneNCBI_id": 2554,
      "geneSymbol": "GABRA1",
      "hgvs": [
        "NM_000806.5:c.640C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000797.2:p.Arg214Cys",
        "hgvsWellDefined": "NP_000797.2:p.Arg214Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006835"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825647293",
      "coordinates": [
        {
          "allele": "T",
          "end": 995,
          "referenceAllele": "C",
          "start": 994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004075",
      "geneNCBI_id": 2554,
      "geneSymbol": "GABRA1",
      "hgvs": [
        "NM_001127643.1:c.640C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121115.1:p.Arg214Cys",
        "hgvsWellDefined": "NP_001121115.1:p.Arg214Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011656"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825647694",
      "coordinates": [
        {
          "allele": "T",
          "end": 1144,
          "referenceAllele": "C",
          "start": 1143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004075",
      "geneNCBI_id": 2554,
      "geneSymbol": "GABRA1",
      "hgvs": [
        "NM_001127644.1:c.640C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121116.1:p.Arg214Cys",
        "hgvsWellDefined": "NP_001121116.1:p.Arg214Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011657"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825648095",
      "coordinates": [
        {
          "allele": "T",
          "end": 732,
          "referenceAllele": "C",
          "start": 731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004075",
      "geneNCBI_id": 2554,
      "geneSymbol": "GABRA1",
      "hgvs": [
        "NM_001127645.1:c.640C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121117.1:p.Arg214Cys",
        "hgvsWellDefined": "NP_001121117.1:p.Arg214Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011658"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915967947",
      "coordinates": [
        {
          "allele": "T",
          "end": 754,
          "referenceAllele": "C",
          "start": 753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004075",
      "geneNCBI_id": 2554,
      "geneSymbol": "GABRA1",
      "hgvs": [
        "NM_001127648.1:c.640C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121120.1:p.Arg214Cys",
        "hgvsWellDefined": "NP_001121120.1:p.Arg214Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011659"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825647694",
      "coordinates": [
        {
          "allele": "T",
          "end": 958,
          "referenceAllele": "C",
          "start": 957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004075",
      "geneNCBI_id": 2554,
      "geneSymbol": "GABRA1",
      "hgvs": [
        "NM_001127644.2:c.640C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121116.1:p.Arg214Cys",
        "hgvsWellDefined": "NP_001121116.1:p.Arg214Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663552",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393943.10:c.640C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001127644.2:c.640C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377517.4:p.Arg214Cys"
          },
          "RefSeq": {
            "hgvs": "NP_001121116.1:p.Arg214Cys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825647293",
      "coordinates": [
        {
          "allele": "T",
          "end": 943,
          "referenceAllele": "C",
          "start": 942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004075",
      "geneNCBI_id": 2554,
      "geneSymbol": "GABRA1",
      "hgvs": [
        "NM_001127643.2:c.640C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121115.1:p.Arg214Cys",
        "hgvsWellDefined": "NP_001121115.1:p.Arg214Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676918"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825648095",
      "coordinates": [
        {
          "allele": "T",
          "end": 712,
          "referenceAllele": "C",
          "start": 711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004075",
      "geneNCBI_id": 2554,
      "geneSymbol": "GABRA1",
      "hgvs": [
        "NM_001127645.2:c.640C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121117.1:p.Arg214Cys",
        "hgvsWellDefined": "NP_001121117.1:p.Arg214Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676919"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915967947",
      "coordinates": [
        {
          "allele": "T",
          "end": 726,
          "referenceAllele": "C",
          "start": 725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004075",
      "geneNCBI_id": 2554,
      "geneSymbol": "GABRA1",
      "hgvs": [
        "NM_001127648.2:c.640C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121120.1:p.Arg214Cys",
        "hgvsWellDefined": "NP_001121120.1:p.Arg214Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676920"
    }
  ],
  "type": "nucleotide"
}