{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA136836487",
  "communityStandardTitle": [
    "NM_005514.8(HLA-B):c.281A>C (p.Gln94Pro)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.31324527T>G?assembly=hg19",
        "id": "chr6:g.31324527T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.31356750T>G?assembly=hg38",
        "id": "chr6:g.31356750T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1140404",
        "rs": 1140404
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-31356750-T-G?dataset=gnomad_r3",
        "id": "6-31356750-T-G",
        "variant": "6:31356750 T / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-31356750-T-G?dataset=gnomad_r4",
        "id": "6-31356750-T-G",
        "variant": "6:31356750 T / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 31356750,
          "referenceAllele": "T",
          "start": 31356749
        }
      ],
      "hgvs": [
        "NC_000006.12:g.31356750T>G",
        "CM000668.2:g.31356750T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 31324527,
          "referenceAllele": "T",
          "start": 31324526
        }
      ],
      "hgvs": [
        "NC_000006.11:g.31324527T>G",
        "CM000668.1:g.31324527T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 31432506,
          "referenceAllele": "T",
          "start": 31432505
        }
      ],
      "hgvs": [
        "NC_000006.10:g.31432506T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5463,
          "referenceAllele": "A",
          "start": 5462
        }
      ],
      "hgvs": [
        "NG_023187.1:g.5463A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003703"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1754,
          "referenceAllele": "A",
          "start": 1753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004932",
      "geneNCBI_id": 3106,
      "geneSymbol": "HLA-B",
      "hgvs": [
        "ENST00000474381.2:n.1754A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905216"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1754,
          "referenceAllele": "A",
          "start": 1753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004932",
      "geneNCBI_id": 3106,
      "geneSymbol": "HLA-B",
      "hgvs": [
        "ENST00000481849.6:n.1754A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905289"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1754,
          "referenceAllele": "A",
          "start": 1753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004932",
      "geneNCBI_id": 3106,
      "geneSymbol": "HLA-B",
      "hgvs": [
        "ENST00000497377.6:n.1754A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905445"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 281,
          "referenceAllele": "A",
          "start": 280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004932",
      "geneNCBI_id": 3106,
      "geneSymbol": "HLA-B",
      "hgvs": [
        "ENST00000640094.2:c.281A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491275.2:p.Gln94Pro",
        "hgvsWellDefined": "ENSP00000491275.2:p.Gln94Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906383"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 281,
          "referenceAllele": "A",
          "start": 280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004932",
      "geneNCBI_id": 3106,
      "geneSymbol": "HLA-B",
      "hgvs": [
        "ENST00000696558.1:c.281A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512716.1:p.Gln94Pro",
        "hgvsWellDefined": "ENSP00000512716.1:p.Gln94Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908005"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 798,
          "referenceAllele": "A",
          "start": 797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004932",
      "geneNCBI_id": 3106,
      "geneSymbol": "HLA-B",
      "hgvs": [
        "ENST00000696559.1:c.281A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512717.1:p.Gln94Pro",
        "hgvsWellDefined": "ENSP00000512717.1:p.Gln94Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908006"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1809,
          "referenceAllele": "A",
          "start": 1808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004932",
      "geneNCBI_id": 3106,
      "geneSymbol": "HLA-B",
      "hgvs": [
        "ENST00000696560.1:c.281A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512718.1:p.Gln94Pro",
        "hgvsWellDefined": "ENSP00000512718.1:p.Gln94Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908007"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 722,
          "referenceAllele": "A",
          "start": 721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004932",
      "geneNCBI_id": 3106,
      "geneSymbol": "HLA-B",
      "hgvs": [
        "ENST00000696561.1:c.281A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512719.1:p.Gln94Pro",
        "hgvsWellDefined": "ENSP00000512719.1:p.Gln94Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908008"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1714,
          "referenceAllele": "A",
          "start": 1713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004932",
      "geneNCBI_id": 3106,
      "geneSymbol": "HLA-B",
      "hgvs": [
        "ENST00000696562.1:c.281A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512720.1:p.Gln94Pro",
        "hgvsWellDefined": "ENSP00000512720.1:p.Gln94Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908009"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 302,
          "referenceAllele": "A",
          "start": 301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004932",
      "geneNCBI_id": 3106,
      "geneSymbol": "HLA-B",
      "hgvs": [
        "ENST00000412585.7:c.281A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399168.2:p.Gln94Pro",
        "hgvsWellDefined": "ENSP00000399168.2:p.Gln94Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754501",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000412585.7:c.281A>C"
          },
          "RefSeq": {
            "hgvs": "NM_005514.8:c.281A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000399168.2:p.Gln94Pro"
          },
          "RefSeq": {
            "hgvs": "NP_005505.2:p.Gln94Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 310,
          "referenceAllele": "A",
          "start": 309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004932",
      "geneNCBI_id": 3106,
      "geneSymbol": "HLA-B",
      "hgvs": [
        "ENST00000412585.6:c.281A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399168.2:p.Gln94Pro",
        "hgvsWellDefined": "ENSP00000399168.2:p.Gln94Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282676"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 439,
          "referenceAllele": "A",
          "start": 438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004932",
      "geneNCBI_id": 3106,
      "geneSymbol": "HLA-B",
      "hgvs": [
        "ENST00000434333.1:c.314A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405931.1:p.Gln105Pro",
        "hgvsWellDefined": "ENSP00000405931.1:p.Gln105Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292975"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 156,
          "referenceAllele": "A",
          "start": 155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004932",
      "geneNCBI_id": 3106,
      "geneSymbol": "HLA-B",
      "hgvs": [
        "ENST00000474381.1:n.156A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS315912"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 302,
          "referenceAllele": "A",
          "start": 301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004932",
      "geneNCBI_id": 3106,
      "geneSymbol": "HLA-B",
      "hgvs": [
        "ENST00000498007.1:n.302A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334106"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 104,
          "referenceAllele": "T",
          "start": 103
        }
      ],
      "hgvs": [
        "ENST00000603274.1:n.104T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS398555"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072126144",
      "coordinates": [
        {
          "allele": "C",
          "end": 335,
          "referenceAllele": "A",
          "start": 334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004932",
      "geneNCBI_id": 3106,
      "geneSymbol": "HLA-B",
      "hgvs": [
        "NM_005514.6:c.281A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005505.2:p.Gln94Pro",
        "hgvsWellDefined": "NP_005505.2:p.Gln94Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030605"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 330,
          "referenceAllele": "A",
          "start": 329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004932",
      "geneNCBI_id": 3106,
      "geneSymbol": "HLA-B",
      "hgvs": [
        "XM_011514556.1:c.314A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512858.1:p.Gln105Pro",
        "hgvsWellDefined": "XP_011512858.1:p.Gln105Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081781"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 291,
          "referenceAllele": "A",
          "start": 290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004932",
      "geneNCBI_id": 3106,
      "geneSymbol": "HLA-B",
      "hgvs": [
        "XM_011514557.1:c.281A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512859.1:p.Gln94Pro",
        "hgvsWellDefined": "XP_011512859.1:p.Gln94Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081782"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 291,
          "referenceAllele": "A",
          "start": 290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004932",
      "geneNCBI_id": 3106,
      "geneSymbol": "HLA-B",
      "hgvs": [
        "XR_926175.1:n.291A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS122789"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072126144",
      "coordinates": [
        {
          "allele": "C",
          "end": 368,
          "referenceAllele": "A",
          "start": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004932",
      "geneNCBI_id": 3106,
      "geneSymbol": "HLA-B",
      "hgvs": [
        "NM_005514.7:c.281A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005505.2:p.Gln94Pro",
        "hgvsWellDefined": "NP_005505.2:p.Gln94Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525318"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072126144",
      "coordinates": [
        {
          "allele": "C",
          "end": 302,
          "referenceAllele": "A",
          "start": 301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004932",
      "geneNCBI_id": 3106,
      "geneSymbol": "HLA-B",
      "hgvs": [
        "NM_005514.8:c.281A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005505.2:p.Gln94Pro",
        "hgvsWellDefined": "NP_005505.2:p.Gln94Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667005",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000412585.7:c.281A>C"
          },
          "RefSeq": {
            "hgvs": "NM_005514.8:c.281A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000399168.2:p.Gln94Pro"
          },
          "RefSeq": {
            "hgvs": "NP_005505.2:p.Gln94Pro"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}