{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA11981334",
  "communityStandardTitle": [
    "NC_000005.10:g.132448701G>T"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.131784393G>T?assembly=hg19",
        "id": "chr5:g.131784393G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.132448701G>T?assembly=hg38",
        "id": "chr5:g.132448701G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/12521868",
        "rs": 12521868
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-131784393-G-T?dataset=gnomad_r2_1",
        "id": "5-131784393-G-T",
        "variant": "5:131784393 G / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-132448701-G-T?dataset=gnomad_r3",
        "id": "5-132448701-G-T",
        "variant": "5:132448701 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-132448701-G-T?dataset=gnomad_r4",
        "id": "5-132448701-G-T",
        "variant": "5:132448701 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 132448701,
          "referenceAllele": "G",
          "start": 132448700
        }
      ],
      "hgvs": [
        "NC_000005.10:g.132448701G>T",
        "CM000667.2:g.132448701G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 131784393,
          "referenceAllele": "G",
          "start": 131784392
        }
      ],
      "hgvs": [
        "NC_000005.9:g.131784393G>T",
        "CM000667.1:g.131784393G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 131812292,
          "referenceAllele": "G",
          "start": 131812291
        }
      ],
      "hgvs": [
        "NC_000005.8:g.131812292G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 328,
          "endIntronDirection": "-",
          "endIntronOffset": 948,
          "referenceAllele": "G",
          "start": 328,
          "startIntronDirection": "-",
          "startIntronOffset": 949
        }
      ],
      "hgvs": [
        "ENST00000638452.2:c.-208-949G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492349.2:n.-208-949G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764537"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 206,
          "endIntronDirection": "+",
          "endIntronOffset": 28761,
          "referenceAllele": "G",
          "start": 206,
          "startIntronDirection": "+",
          "startIntronOffset": 28760
        }
      ],
      "hgvs": [
        "ENST00000638504.1:n.206+28761G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764565"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 249,
          "endIntronDirection": "-",
          "endIntronOffset": 948,
          "referenceAllele": "G",
          "start": 249,
          "startIntronDirection": "-",
          "startIntronOffset": 949
        }
      ],
      "hgvs": [
        "ENST00000638568.2:c.-350-949G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491158.2:n.-350-949G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764591"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 249,
          "endIntronDirection": "-",
          "endIntronOffset": 948,
          "referenceAllele": "G",
          "start": 249,
          "startIntronDirection": "-",
          "startIntronOffset": 949
        }
      ],
      "hgvs": [
        "ENST00000639899.1:n.250-949G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765234"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 706,
          "endIntronDirection": "+",
          "endIntronOffset": 846,
          "referenceAllele": "C",
          "start": 706,
          "startIntronDirection": "+",
          "startIntronOffset": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006116",
      "geneNCBI_id": 3659,
      "geneSymbol": "IRF1",
      "hgvs": [
        "ENST00000679921.1:c.*73+846C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505766.1:n.*73+846C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779543"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 179,
          "endIntronDirection": "-",
          "endIntronOffset": 948,
          "referenceAllele": "G",
          "start": 179,
          "startIntronDirection": "-",
          "startIntronOffset": 949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033838",
      "geneNCBI_id": 441108,
      "geneSymbol": "CARINH",
      "hgvs": [
        "ENST00000337752.6:c.49-949G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338228.2:n.49-949G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260525"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 171,
          "endIntronDirection": "-",
          "endIntronOffset": 948,
          "referenceAllele": "G",
          "start": 171,
          "startIntronDirection": "-",
          "startIntronOffset": 949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033838",
      "geneNCBI_id": 441108,
      "geneSymbol": "CARINH",
      "hgvs": [
        "ENST00000378947.7:c.49-949G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368230.3:n.49-949G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272272"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 524,
          "endIntronDirection": "-",
          "endIntronOffset": 948,
          "referenceAllele": "G",
          "start": 524,
          "startIntronDirection": "-",
          "startIntronOffset": 949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033838",
      "geneNCBI_id": 441108,
      "geneSymbol": "CARINH",
      "hgvs": [
        "ENST00000378953.8:c.49-949G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368236.4:n.49-949G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272274"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 171,
          "endIntronDirection": "-",
          "endIntronOffset": 948,
          "referenceAllele": "G",
          "start": 171,
          "startIntronDirection": "-",
          "startIntronOffset": 949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033838",
      "geneNCBI_id": 441108,
      "geneSymbol": "CARINH",
      "hgvs": [
        "ENST00000407797.5:c.49-949G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385513.1:n.49-949G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 179,
          "endIntronDirection": "-",
          "endIntronOffset": 948,
          "referenceAllele": "G",
          "start": 179,
          "startIntronDirection": "-",
          "startIntronOffset": 949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033838",
      "geneNCBI_id": 441108,
      "geneSymbol": "CARINH",
      "hgvs": [
        "ENST00000461203.5:n.180-949G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS305770"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 77,
          "endIntronDirection": "-",
          "endIntronOffset": 948,
          "referenceAllele": "G",
          "start": 77,
          "startIntronDirection": "-",
          "startIntronOffset": 949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033838",
      "geneNCBI_id": 441108,
      "geneSymbol": "CARINH",
      "hgvs": [
        "ENST00000621237.1:c.49-949G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481774.1:n.49-949G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405183"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 387,
          "endIntronDirection": "-",
          "endIntronOffset": 948,
          "referenceAllele": "G",
          "start": 387,
          "startIntronDirection": "-",
          "startIntronOffset": 949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033838",
      "geneNCBI_id": 441108,
      "geneSymbol": "CARINH",
      "hgvs": [
        "NR_045116.1:n.388-949G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051275"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 387,
          "endIntronDirection": "-",
          "endIntronOffset": 948,
          "referenceAllele": "G",
          "start": 387,
          "startIntronDirection": "-",
          "startIntronOffset": 949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033838",
      "geneNCBI_id": 441108,
      "geneSymbol": "CARINH",
      "hgvs": [
        "NM_001207001.2:c.49-949G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001193930.1:n.49-949G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511888"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 231,
          "endIntronDirection": "-",
          "endIntronOffset": 948,
          "referenceAllele": "G",
          "start": 231,
          "startIntronDirection": "-",
          "startIntronOffset": 949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033838",
      "geneNCBI_id": 441108,
      "geneSymbol": "CARINH",
      "hgvs": [
        "NR_161242.1:n.232-949G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705300"
    }
  ],
  "type": "nucleotide"
}