{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA128494",
  "communityStandardTitle": [
    "NM_000416.3(IFNGR1):c.2T>A (p.Met1Lys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=38561[alleleid]",
        "alleleId": 38561,
        "preferredName": "NM_000416.3(IFNGR1):c.2T>A (p.Met1Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/29607",
        "RCV": [
          "RCV000022447"
        ],
        "variationId": 29607
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/6-137540463-A-T",
        "id": "6-137540463-A-T",
        "variant": "6:137540463 A / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.137540463A>T?assembly=hg19",
        "id": "chr6:g.137540463A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.137219326A>T?assembly=hg38",
        "id": "chr6:g.137219326A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/387906593",
        "rs": 387906593
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-137540463-A-T?dataset=gnomad_r2_1",
        "id": "6-137540463-A-T",
        "variant": "6:137540463 A / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-137219326-A-T?dataset=gnomad_r3",
        "id": "6-137219326-A-T",
        "variant": "6:137219326 A / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-137219326-A-T?dataset=gnomad_r4",
        "id": "6-137219326-A-T",
        "variant": "6:137219326 A / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 137219326,
          "referenceAllele": "A",
          "start": 137219325
        }
      ],
      "hgvs": [
        "NC_000006.12:g.137219326A>T",
        "CM000668.2:g.137219326A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 137540463,
          "referenceAllele": "A",
          "start": 137540462
        }
      ],
      "hgvs": [
        "NC_000006.11:g.137540463A>T",
        "CM000668.1:g.137540463A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 137582156,
          "referenceAllele": "A",
          "start": 137582155
        }
      ],
      "hgvs": [
        "NC_000006.10:g.137582156A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5105,
          "referenceAllele": "T",
          "start": 5104
        }
      ],
      "hgvs": [
        "NG_007394.1:g.5105T>A",
        "LRG_66:g.5105T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000562"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 124,
          "referenceAllele": "T",
          "start": 123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "ENST00000414770.6:c.-140T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394230.2:n.-140T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904710"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 124,
          "referenceAllele": "T",
          "start": 123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "ENST00000458076.6:c.2T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389249.2:p.Met1Lys",
        "hgvsWellDefined": "ENSP00000389249.2:p.Met1Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905059"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 60,
          "referenceAllele": "T",
          "start": 59
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "ENST00000696694.1:c.2T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512815.1:p.Met1Lys",
        "hgvsWellDefined": "ENSP00000512815.1:p.Met1Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908139"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 87,
          "referenceAllele": "T",
          "start": 86
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "ENST00000696695.1:c.2T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512816.1:p.Met1Lys",
        "hgvsWellDefined": "ENSP00000512816.1:p.Met1Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908140"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 40,
          "referenceAllele": "T",
          "start": 39
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "ENST00000696696.1:c.2T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512817.1:p.Met1Lys",
        "hgvsWellDefined": "ENSP00000512817.1:p.Met1Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908141"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 41,
          "referenceAllele": "T",
          "start": 40
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "ENST00000696698.1:c.2T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512819.1:p.Met1Lys",
        "hgvsWellDefined": "ENSP00000512819.1:p.Met1Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908143"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 60,
          "referenceAllele": "T",
          "start": 59
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "ENST00000367739.9:c.2T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356713.5:p.Met1Lys",
        "hgvsWellDefined": "ENSP00000356713.5:p.Met1Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750072",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367739.9:c.2T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000416.3:c.2T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356713.5:p.Met1Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000407.1:p.Met1Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 124,
          "referenceAllele": "T",
          "start": 123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "ENST00000367739.8:c.2T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356713.4:p.Met1Lys",
        "hgvsWellDefined": "ENSP00000356713.4:p.Met1Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266552"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 124,
          "referenceAllele": "T",
          "start": 123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "ENST00000414770.5:c.-140T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394230.1:n.-140T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283676"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 124,
          "referenceAllele": "T",
          "start": 123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "ENST00000458076.5:c.2T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389249.1:p.Met1Lys",
        "hgvsWellDefined": "ENSP00000389249.1:p.Met1Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304242"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 124,
          "referenceAllele": "T",
          "start": 123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "ENST00000478333.1:n.124T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS318963"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 45,
          "referenceAllele": "T",
          "start": 44
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "ENST00000543628.5:c.2T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443282.2:p.Met1Lys",
        "hgvsWellDefined": "ENSP00000443282.2:p.Met1Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364105"
    },
    {
      "@id": "http://reg.genome.network/allele/PA128496",
      "coordinates": [
        {
          "allele": "A",
          "end": 105,
          "referenceAllele": "T",
          "start": 104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "NM_000416.2:c.2T>A",
        "LRG_66t1:c.2T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000407.1:p.Met1Lys",
        "hgvsWellDefined": "NP_000407.1:p.Met1Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006478"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 519,
          "referenceAllele": "T",
          "start": 518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "XM_011535793.1:c.-140T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534095.1:n.-140T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102795"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1026,
          "referenceAllele": "T",
          "start": 1025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "XM_011535793.2:c.-140T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534095.1:n.-140T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552184"
    },
    {
      "@id": "http://reg.genome.network/allele/PA128496",
      "coordinates": [
        {
          "allele": "A",
          "end": 60,
          "referenceAllele": "T",
          "start": 59
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "NM_000416.3:c.2T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000407.1:p.Met1Lys",
        "hgvsWellDefined": "NP_000407.1:p.Met1Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674838",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367739.9:c.2T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000416.3:c.2T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356713.5:p.Met1Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000407.1:p.Met1Lys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}