{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3743738",
  "communityStandardTitle": [
    "NM_002122.5(HLA-DQA1):c.101G>A (p.Cys34Tyr)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM3733868"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1248027[alleleid]",
        "alleleId": 1248027,
        "preferredName": "NM_002122.5(HLA-DQA1):c.101G>A (p.Cys34Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1258533",
        "RCV": [
          "RCV001671063"
        ],
        "variationId": 1258533
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/6-32609105-G-A",
        "id": "6-32609105-G-A",
        "variant": "6:32609105 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.32609105G>A?assembly=hg19",
        "id": "chr6:g.32609105G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.32641328G>A?assembly=hg38",
        "id": "chr6:g.32641328G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1129740",
        "rs": 1129740
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-32609105-G-A?dataset=gnomad_r2_1",
        "id": "6-32609105-G-A",
        "variant": "6:32609105 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-32641328-G-A?dataset=gnomad_r3",
        "id": "6-32641328-G-A",
        "variant": "6:32641328 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-32641328-G-A?dataset=gnomad_r4",
        "id": "6-32641328-G-A",
        "variant": "6:32641328 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 32641328,
          "referenceAllele": "G",
          "start": 32641327
        }
      ],
      "hgvs": [
        "NC_000006.12:g.32641328G>A",
        "CM000668.2:g.32641328G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 32609105,
          "referenceAllele": "G",
          "start": 32609104
        }
      ],
      "hgvs": [
        "NC_000006.11:g.32609105G>A",
        "CM000668.1:g.32609105G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 32717083,
          "referenceAllele": "G",
          "start": 32717082
        }
      ],
      "hgvs": [
        "NC_000006.10:g.32717083G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8923,
          "referenceAllele": "G",
          "start": 8922
        }
      ],
      "hgvs": [
        "NG_032876.1:g.8923G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005249"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 154,
          "referenceAllele": "G",
          "start": 153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004942",
      "geneNCBI_id": 3117,
      "geneSymbol": "HLA-DQA1",
      "hgvs": [
        "ENST00000343139.11:c.101G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339398.5:p.Cys34Tyr",
        "hgvsWellDefined": "ENSP00000339398.5:p.Cys34Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748123",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000343139.11:c.101G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002122.5:c.101G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000339398.5:p.Cys34Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_002113.2:p.Cys34Tyr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 203,
          "referenceAllele": "G",
          "start": 202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004942",
      "geneNCBI_id": 3117,
      "geneSymbol": "HLA-DQA1",
      "hgvs": [
        "ENST00000343139.9:c.101G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339398.5:p.Cys34Tyr",
        "hgvsWellDefined": "ENSP00000339398.5:p.Cys34Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261705"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 140,
          "referenceAllele": "G",
          "start": 139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004942",
      "geneNCBI_id": 3117,
      "geneSymbol": "HLA-DQA1",
      "hgvs": [
        "ENST00000374949.2:c.101G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364087.2:p.Cys34Tyr",
        "hgvsWellDefined": "ENSP00000364087.2:p.Cys34Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270494"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 159,
          "referenceAllele": "G",
          "start": 158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004942",
      "geneNCBI_id": 3117,
      "geneSymbol": "HLA-DQA1",
      "hgvs": [
        "ENST00000395363.5:c.101G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378767.1:p.Cys34Tyr",
        "hgvsWellDefined": "ENSP00000378767.1:p.Cys34Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276653"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 129,
          "referenceAllele": "G",
          "start": 128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004942",
      "geneNCBI_id": 3117,
      "geneSymbol": "HLA-DQA1",
      "hgvs": [
        "ENST00000460633.1:n.129G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS305326"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1127,
          "referenceAllele": "G",
          "start": 1126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004942",
      "geneNCBI_id": 3117,
      "geneSymbol": "HLA-DQA1",
      "hgvs": [
        "ENST00000482745.5:c.*933G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436546.1:n.*933G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS322368"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 154,
          "referenceAllele": "G",
          "start": 153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004942",
      "geneNCBI_id": 3117,
      "geneSymbol": "HLA-DQA1",
      "hgvs": [
        "ENST00000496318.5:c.101G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437302.1:p.Cys34Tyr",
        "hgvsWellDefined": "ENSP00000437302.1:p.Cys34Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS332818"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499260483",
      "coordinates": [
        {
          "allele": "A",
          "end": 154,
          "referenceAllele": "G",
          "start": 153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004942",
      "geneNCBI_id": 3117,
      "geneSymbol": "HLA-DQA1",
      "hgvs": [
        "NM_002122.3:c.101G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002113.2:p.Cys34Tyr",
        "hgvsWellDefined": "NP_002113.2:p.Cys34Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027447"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 164,
          "referenceAllele": "G",
          "start": 163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004942",
      "geneNCBI_id": 3117,
      "geneSymbol": "HLA-DQA1",
      "hgvs": [
        "XM_006715079.2:c.101G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715142.1:p.Cys34Tyr",
        "hgvsWellDefined": "XP_006715142.1:p.Cys34Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 154,
          "referenceAllele": "G",
          "start": 153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004942",
      "geneNCBI_id": 3117,
      "geneSymbol": "HLA-DQA1",
      "hgvs": [
        "XM_006715079.4:c.101G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715142.1:p.Cys34Tyr",
        "hgvsWellDefined": "XP_006715142.1:p.Cys34Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538869"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 86,
          "endIntronDirection": "-",
          "endIntronOffset": 846,
          "referenceAllele": "C",
          "start": 86,
          "startIntronDirection": "-",
          "startIntronOffset": 847
        }
      ],
      "hgvs": [
        "XR_001744085.1:n.87-847C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593007"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499260483",
      "coordinates": [
        {
          "allele": "A",
          "end": 154,
          "referenceAllele": "G",
          "start": 153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004942",
      "geneNCBI_id": 3117,
      "geneSymbol": "HLA-DQA1",
      "hgvs": [
        "NM_002122.5:c.101G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002113.2:p.Cys34Tyr",
        "hgvsWellDefined": "NP_002113.2:p.Cys34Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695460",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000343139.11:c.101G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002122.5:c.101G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000339398.5:p.Cys34Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_002113.2:p.Cys34Tyr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}