{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA270087",
  "communityStandardTitle": [
    "NM_004744.5(LRAT):c.163C>T (p.Arg55Trp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=152847[alleleid]",
        "alleleId": 152847,
        "preferredName": "NM_004744.5(LRAT):c.163C>T (p.Arg55Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/143129",
        "RCV": [
          "RCV000132653",
          "RCV003556177"
        ],
        "variationId": 143129
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.155665641C>T?assembly=hg19",
        "id": "chr4:g.155665641C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.154744489C>T?assembly=hg38",
        "id": "chr4:g.154744489C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/527236079",
        "rs": 527236079
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-154744489-C-T?dataset=gnomad_r4",
        "id": "4-154744489-C-T",
        "variant": "4:154744489 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 154744489,
          "referenceAllele": "C",
          "start": 154744488
        }
      ],
      "hgvs": [
        "NC_000004.12:g.154744489C>T",
        "CM000666.2:g.154744489C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 155665641,
          "referenceAllele": "C",
          "start": 155665640
        }
      ],
      "hgvs": [
        "NC_000004.11:g.155665641C>T",
        "CM000666.1:g.155665641C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 155885091,
          "referenceAllele": "C",
          "start": 155885090
        }
      ],
      "hgvs": [
        "NC_000004.10:g.155885091C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5479,
          "referenceAllele": "C",
          "start": 5478
        }
      ],
      "hgvs": [
        "NG_009110.1:g.5479C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001443"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 387,
          "referenceAllele": "C",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006685",
      "geneNCBI_id": 9227,
      "geneSymbol": "LRAT",
      "hgvs": [
        "ENST00000336356.4:c.163C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000337224.3:p.Arg55Trp",
        "hgvsWellDefined": "ENSP00000337224.3:p.Arg55Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747577",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000336356.4:c.163C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004744.5:c.163C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000337224.3:p.Arg55Trp"
          },
          "RefSeq": {
            "hgvs": "NP_004735.2:p.Arg55Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 416,
          "referenceAllele": "C",
          "start": 415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006685",
      "geneNCBI_id": 9227,
      "geneSymbol": "LRAT",
      "hgvs": [
        "ENST00000336356.3:c.163C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000337224.3:p.Arg55Trp",
        "hgvsWellDefined": "ENSP00000337224.3:p.Arg55Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260291"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 471,
          "endIntronDirection": "-",
          "endIntronOffset": 3699,
          "referenceAllele": "C",
          "start": 471,
          "startIntronDirection": "-",
          "startIntronOffset": 3700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006685",
      "geneNCBI_id": 9227,
      "geneSymbol": "LRAT",
      "hgvs": [
        "ENST00000499392.1:n.472-3700C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334778"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 502,
          "referenceAllele": "C",
          "start": 501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006685",
      "geneNCBI_id": 9227,
      "geneSymbol": "LRAT",
      "hgvs": [
        "ENST00000502525.5:c.163C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422324.1:p.Arg55Trp",
        "hgvsWellDefined": "ENSP00000422324.1:p.Arg55Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS335060"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 225,
          "referenceAllele": "C",
          "start": 224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006685",
      "geneNCBI_id": 9227,
      "geneSymbol": "LRAT",
      "hgvs": [
        "ENST00000507827.5:c.163C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426761.1:p.Arg55Trp",
        "hgvsWellDefined": "ENSP00000426761.1:p.Arg55Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 490,
          "referenceAllele": "C",
          "start": 489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006685",
      "geneNCBI_id": 9227,
      "geneSymbol": "LRAT",
      "hgvs": [
        "ENST00000510733.1:n.490C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS341160"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826864265",
      "coordinates": [
        {
          "allele": "T",
          "end": 222,
          "referenceAllele": "C",
          "start": 221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006685",
      "geneNCBI_id": 9227,
      "geneSymbol": "LRAT",
      "hgvs": [
        "NM_001301645.1:c.163C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001288574.1:p.Arg55Trp",
        "hgvsWellDefined": "NP_001288574.1:p.Arg55Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025197"
    },
    {
      "@id": "http://reg.genome.network/allele/PA270088",
      "coordinates": [
        {
          "allele": "T",
          "end": 416,
          "referenceAllele": "C",
          "start": 415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006685",
      "geneNCBI_id": 9227,
      "geneSymbol": "LRAT",
      "hgvs": [
        "NM_004744.4:c.163C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004735.2:p.Arg55Trp",
        "hgvsWellDefined": "NP_004735.2:p.Arg55Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029892"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 502,
          "referenceAllele": "C",
          "start": 501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006685",
      "geneNCBI_id": 9227,
      "geneSymbol": "LRAT",
      "hgvs": [
        "XM_006714412.2:c.163C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714475.1:p.Arg55Trp",
        "hgvsWellDefined": "XP_006714475.1:p.Arg55Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070645"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 499,
          "referenceAllele": "C",
          "start": 498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006685",
      "geneNCBI_id": 9227,
      "geneSymbol": "LRAT",
      "hgvs": [
        "XR_938793.1:n.499C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133491"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 495,
          "referenceAllele": "C",
          "start": 494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006685",
      "geneNCBI_id": 9227,
      "geneSymbol": "LRAT",
      "hgvs": [
        "XR_938793.2:n.495C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS612056"
    },
    {
      "@id": "http://reg.genome.network/allele/PA270088",
      "coordinates": [
        {
          "allele": "T",
          "end": 387,
          "referenceAllele": "C",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006685",
      "geneNCBI_id": 9227,
      "geneSymbol": "LRAT",
      "hgvs": [
        "NM_004744.5:c.163C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004735.2:p.Arg55Trp",
        "hgvsWellDefined": "NP_004735.2:p.Arg55Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666630",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000336356.4:c.163C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004744.5:c.163C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000337224.3:p.Arg55Trp"
          },
          "RefSeq": {
            "hgvs": "NP_004735.2:p.Arg55Trp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826864265",
      "coordinates": [
        {
          "allele": "T",
          "end": 225,
          "referenceAllele": "C",
          "start": 224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006685",
      "geneNCBI_id": 9227,
      "geneSymbol": "LRAT",
      "hgvs": [
        "NM_001301645.2:c.163C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001288574.1:p.Arg55Trp",
        "hgvsWellDefined": "NP_001288574.1:p.Arg55Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716961"
    }
  ],
  "type": "nucleotide"
}