{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10630092",
  "communityStandardTitle": [
    "NM_031433.4(MFRP):c.1106C>T (p.Ala369Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=312783[alleleid]",
        "alleleId": 312783,
        "preferredName": "NM_031433.4(MFRP):c.1106C>T (p.Ala369Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/302955",
        "RCV": [
          "RCV000279274",
          "RCV000315689",
          "RCV001104220"
        ],
        "variationId": 302955
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.119214544G>A?assembly=hg19",
        "id": "chr11:g.119214544G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.119343834G>A?assembly=hg38",
        "id": "chr11:g.119343834G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/886047831",
        "rs": 886047831
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-119214544-G-A?dataset=gnomad_r2_1",
        "id": "11-119214544-G-A",
        "variant": "11:119214544 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-119343834-G-A?dataset=gnomad_r4",
        "id": "11-119343834-G-A",
        "variant": "11:119343834 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 119343834,
          "referenceAllele": "G",
          "start": 119343833
        }
      ],
      "hgvs": [
        "NC_000011.10:g.119343834G>A",
        "CM000673.2:g.119343834G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 119214544,
          "referenceAllele": "G",
          "start": 119214543
        }
      ],
      "hgvs": [
        "NC_000011.9:g.119214544G>A",
        "CM000673.1:g.119214544G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 118719754,
          "referenceAllele": "G",
          "start": 118719753
        }
      ],
      "hgvs": [
        "NC_000011.8:g.118719754G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7840,
          "referenceAllele": "C",
          "start": 7839
        }
      ],
      "hgvs": [
        "NG_012235.1:g.7840C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002307"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1298,
          "referenceAllele": "C",
          "start": 1297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018121",
      "geneNCBI_id": 83552,
      "geneSymbol": "MFRP",
      "hgvs": [
        "ENST00000619721.6:c.1106C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481824.1:p.Ala369Val",
        "hgvsWellDefined": "ENSP00000481824.1:p.Ala369Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762241",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000619721.6:c.1106C>T"
          },
          "RefSeq": {
            "hgvs": "NM_031433.4:c.1106C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000481824.1:p.Ala369Val"
          },
          "RefSeq": {
            "hgvs": "NP_113621.1:p.Ala369Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1050,
          "endIntronDirection": "+",
          "endIntronOffset": 798,
          "referenceAllele": "C",
          "start": 1050,
          "startIntronDirection": "+",
          "startIntronOffset": 797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018121",
      "geneNCBI_id": 83552,
      "geneSymbol": "MFRP",
      "hgvs": [
        "ENST00000360167.4:c.898+798C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353291.4:n.898+798C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265038"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1266,
          "referenceAllele": "C",
          "start": 1265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018121",
      "geneNCBI_id": 83552,
      "geneSymbol": "MFRP",
      "hgvs": [
        "ENST00000619721.5:c.1106C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481824.1:p.Ala369Val",
        "hgvsWellDefined": "ENSP00000481824.1:p.Ala369Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404491"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1266,
          "referenceAllele": "C",
          "start": 1265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014344",
      "geneNCBI_id": 114902,
      "geneSymbol": "C1QTNF5",
      "hgvs": [
        "NM_015645.4:c.-1531C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_056460.1:n.-1531C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034160"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645475967",
      "coordinates": [
        {
          "allele": "T",
          "end": 1266,
          "referenceAllele": "C",
          "start": 1265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018121",
      "geneNCBI_id": 83552,
      "geneSymbol": "MFRP",
      "hgvs": [
        "NM_031433.3:c.1106C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_113621.1:p.Ala369Val",
        "hgvsWellDefined": "NP_113621.1:p.Ala369Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038632"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645475967",
      "coordinates": [
        {
          "allele": "T",
          "end": 1298,
          "referenceAllele": "C",
          "start": 1297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018121",
      "geneNCBI_id": 83552,
      "geneSymbol": "MFRP",
      "hgvs": [
        "NM_031433.4:c.1106C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_113621.1:p.Ala369Val",
        "hgvsWellDefined": "NP_113621.1:p.Ala369Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671109",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000619721.6:c.1106C>T"
          },
          "RefSeq": {
            "hgvs": "NM_031433.4:c.1106C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000481824.1:p.Ala369Val"
          },
          "RefSeq": {
            "hgvs": "NP_113621.1:p.Ala369Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1298,
          "referenceAllele": "C",
          "start": 1297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014344",
      "geneNCBI_id": 114902,
      "geneSymbol": "C1QTNF5",
      "hgvs": [
        "NM_015645.5:c.-1531C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_056460.1:n.-1531C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697587"
    }
  ],
  "type": "nucleotide"
}