{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7463727",
  "communityStandardTitle": [
    "NM_016454.4(EMC4):c.413T>C (p.Ile138Thr)"
  ],
  "externalRecords": {
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/15-34520687-T-C",
        "id": "15-34520687-T-C",
        "variant": "15:34520687 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.34520687T>C?assembly=hg19",
        "id": "chr15:g.34520687T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.34228486T>C?assembly=hg38",
        "id": "chr15:g.34228486T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/116858574",
        "rs": 116858574
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-34520687-T-C?dataset=gnomad_r2_1",
        "id": "15-34520687-T-C",
        "variant": "15:34520687 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-34228486-T-C?dataset=gnomad_r3",
        "id": "15-34228486-T-C",
        "variant": "15:34228486 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-34228486-T-C?dataset=gnomad_r4",
        "id": "15-34228486-T-C",
        "variant": "15:34228486 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 34228486,
          "referenceAllele": "T",
          "start": 34228485
        }
      ],
      "hgvs": [
        "NC_000015.10:g.34228486T>C",
        "CM000677.2:g.34228486T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 34520687,
          "referenceAllele": "T",
          "start": 34520686
        }
      ],
      "hgvs": [
        "NC_000015.9:g.34520687T>C",
        "CM000677.1:g.34520687T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 32307979,
          "referenceAllele": "T",
          "start": 32307978
        }
      ],
      "hgvs": [
        "NC_000015.8:g.32307979T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 114579,
          "referenceAllele": "A",
          "start": 114578
        }
      ],
      "hgvs": [
        "NG_007951.1:g.114579A>G",
        "LRG_270:g.114579A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000719"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8490,
          "referenceAllele": "T",
          "start": 8489
        }
      ],
      "hgvs": [
        "NG_054746.1:g.8490T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617506"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 512,
          "referenceAllele": "T",
          "start": 511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028032",
      "geneNCBI_id": 51234,
      "geneSymbol": "EMC4",
      "hgvs": [
        "ENST00000267750.9:c.413T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000267750.4:p.Ile138Thr",
        "hgvsWellDefined": "ENSP00000267750.4:p.Ile138Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743001",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000267750.9:c.413T>C"
          },
          "RefSeq": {
            "hgvs": "NM_016454.4:c.413T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000267750.4:p.Ile138Thr"
          },
          "RefSeq": {
            "hgvs": "NP_057538.1:p.Ile138Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 457,
          "endIntronDirection": "+",
          "endIntronOffset": 640,
          "referenceAllele": "T",
          "start": 457,
          "startIntronDirection": "+",
          "startIntronOffset": 639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028032",
      "geneNCBI_id": 51234,
      "geneSymbol": "EMC4",
      "hgvs": [
        "ENST00000249209.8:c.355+640T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000249209.4:n.355+640T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249605"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 529,
          "referenceAllele": "T",
          "start": 528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028032",
      "geneNCBI_id": 51234,
      "geneSymbol": "EMC4",
      "hgvs": [
        "ENST00000267750.8:c.413T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000267750.4:p.Ile138Thr",
        "hgvsWellDefined": "ENSP00000267750.4:p.Ile138Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252011"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 654,
          "referenceAllele": "T",
          "start": 653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028032",
      "geneNCBI_id": 51234,
      "geneSymbol": "EMC4",
      "hgvs": [
        "ENST00000557879.1:c.*358T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473881.1:n.*358T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373381"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 315,
          "endIntronDirection": "+",
          "endIntronOffset": 640,
          "referenceAllele": "T",
          "start": 315,
          "startIntronDirection": "+",
          "startIntronOffset": 639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028032",
      "geneNCBI_id": 51234,
      "geneSymbol": "EMC4",
      "hgvs": [
        "ENST00000558102.1:c.*108+640T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453880.1:n.*108+640T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373553"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 499,
          "referenceAllele": "T",
          "start": 498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028032",
      "geneNCBI_id": 51234,
      "geneSymbol": "EMC4",
      "hgvs": [
        "ENST00000558205.5:c.*166T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454042.1:n.*166T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373631"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 382,
          "endIntronDirection": "-",
          "endIntronOffset": 479,
          "referenceAllele": "T",
          "start": 382,
          "startIntronDirection": "-",
          "startIntronOffset": 480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028032",
      "geneNCBI_id": 51234,
      "geneSymbol": "EMC4",
      "hgvs": [
        "ENST00000559078.5:c.304-480T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454052.1:n.304-480T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374290"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 250,
          "endIntronDirection": "-",
          "endIntronOffset": 1266,
          "referenceAllele": "T",
          "start": 250,
          "startIntronDirection": "-",
          "startIntronOffset": 1267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028032",
      "geneNCBI_id": 51234,
      "geneSymbol": "EMC4",
      "hgvs": [
        "ENST00000559421.1:c.202-1267T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452672.1:n.202-1267T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374568"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 482,
          "referenceAllele": "T",
          "start": 481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028032",
      "geneNCBI_id": 51234,
      "geneSymbol": "EMC4",
      "hgvs": [
        "ENST00000560911.5:c.*166T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453610.1:n.*166T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375702"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 202,
          "referenceAllele": "T",
          "start": 201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028032",
      "geneNCBI_id": 51234,
      "geneSymbol": "EMC4",
      "hgvs": [
        "ENST00000560947.1:c.202T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS375732"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1313,
          "endIntronDirection": "+",
          "endIntronOffset": 662,
          "referenceAllele": "T",
          "start": 1313,
          "startIntronDirection": "+",
          "startIntronOffset": 661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028032",
      "geneNCBI_id": 51234,
      "geneSymbol": "EMC4",
      "hgvs": [
        "ENST00000561246.1:n.1313+662T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS375961"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 473,
          "endIntronDirection": "+",
          "endIntronOffset": 640,
          "referenceAllele": "T",
          "start": 473,
          "startIntronDirection": "+",
          "startIntronOffset": 639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028032",
      "geneNCBI_id": 51234,
      "geneSymbol": "EMC4",
      "hgvs": [
        "NM_001286420.1:c.355+640T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273349.1:n.355+640T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022890"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081919634",
      "coordinates": [
        {
          "allele": "C",
          "end": 531,
          "referenceAllele": "T",
          "start": 530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028032",
      "geneNCBI_id": 51234,
      "geneSymbol": "EMC4",
      "hgvs": [
        "NM_016454.3:c.413T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_057538.1:p.Ile138Thr",
        "hgvsWellDefined": "NP_057538.1:p.Ile138Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034703"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 539,
          "referenceAllele": "T",
          "start": 538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028032",
      "geneNCBI_id": 51234,
      "geneSymbol": "EMC4",
      "hgvs": [
        "NM_001351373.1:c.170T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338302.1:p.Ile57Thr",
        "hgvsWellDefined": "NP_001338302.1:p.Ile57Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520161"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 481,
          "endIntronDirection": "+",
          "endIntronOffset": 640,
          "referenceAllele": "T",
          "start": 481,
          "startIntronDirection": "+",
          "startIntronOffset": 639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028032",
      "geneNCBI_id": 51234,
      "geneSymbol": "EMC4",
      "hgvs": [
        "NR_147140.1:n.481+640T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS530681"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081919634",
      "coordinates": [
        {
          "allele": "C",
          "end": 512,
          "referenceAllele": "T",
          "start": 511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028032",
      "geneNCBI_id": 51234,
      "geneSymbol": "EMC4",
      "hgvs": [
        "NM_016454.4:c.413T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_057538.1:p.Ile138Thr",
        "hgvsWellDefined": "NP_057538.1:p.Ile138Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669138",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000267750.9:c.413T>C"
          },
          "RefSeq": {
            "hgvs": "NM_016454.4:c.413T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000267750.4:p.Ile138Thr"
          },
          "RefSeq": {
            "hgvs": "NP_057538.1:p.Ile138Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 454,
          "endIntronDirection": "+",
          "endIntronOffset": 640,
          "referenceAllele": "T",
          "start": 454,
          "startIntronDirection": "+",
          "startIntronOffset": 639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028032",
      "geneNCBI_id": 51234,
      "geneSymbol": "EMC4",
      "hgvs": [
        "NM_001286420.2:c.355+640T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273349.1:n.355+640T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682203"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 520,
          "referenceAllele": "T",
          "start": 519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028032",
      "geneNCBI_id": 51234,
      "geneSymbol": "EMC4",
      "hgvs": [
        "NM_001351373.2:c.170T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338302.1:p.Ile57Thr",
        "hgvsWellDefined": "NP_001338302.1:p.Ile57Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688784"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 462,
          "endIntronDirection": "+",
          "endIntronOffset": 640,
          "referenceAllele": "T",
          "start": 462,
          "startIntronDirection": "+",
          "startIntronOffset": 639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028032",
      "geneNCBI_id": 51234,
      "geneSymbol": "EMC4",
      "hgvs": [
        "NR_147140.2:n.462+640T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704535"
    }
  ],
  "type": "nucleotide"
}