{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA415258969",
  "communityStandardTitle": [
    "NM_000117.3(EMD):c.593C>T (p.Ser198Phe)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1014838[alleleid]",
        "alleleId": 1014838,
        "preferredName": "NM_000117.3(EMD):c.593C>T (p.Ser198Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1017320",
        "RCV": [
          "RCV001316452"
        ],
        "variationId": 1017320
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.153609385C>T?assembly=hg19",
        "id": "chrX:g.153609385C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.154381025C>T?assembly=hg38",
        "id": "chrX:g.154381025C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1569552105",
        "rs": 1569552105
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-154381025-C-T?dataset=gnomad_r4",
        "id": "X-154381025-C-T",
        "variant": "X:154381025 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 154381025,
          "referenceAllele": "C",
          "start": 154381024
        }
      ],
      "hgvs": [
        "NC_000023.11:g.154381025C>T",
        "CM000685.2:g.154381025C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 153609385,
          "referenceAllele": "C",
          "start": 153609384
        }
      ],
      "hgvs": [
        "NC_000023.10:g.153609385C>T",
        "CM000685.1:g.153609385C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 153262579,
          "referenceAllele": "C",
          "start": 153262578
        }
      ],
      "hgvs": [
        "NC_000023.9:g.153262579C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11590,
          "referenceAllele": "C",
          "start": 11589
        }
      ],
      "hgvs": [
        "NG_008677.1:g.11590C>T",
        "LRG_745:g.11590C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001162"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 640,
          "endIntronDirection": "+",
          "endIntronOffset": 21,
          "referenceAllele": "C",
          "start": 640,
          "startIntronDirection": "+",
          "startIntronOffset": 20
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003331",
      "geneNCBI_id": 2010,
      "geneSymbol": "EMD",
      "hgvs": [
        "ENST00000682114.1:c.572+21C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507245.1:n.572+21C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827111"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 762,
          "endIntronDirection": "+",
          "endIntronOffset": 21,
          "referenceAllele": "C",
          "start": 762,
          "startIntronDirection": "+",
          "startIntronOffset": 20
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003331",
      "geneNCBI_id": 2010,
      "geneSymbol": "EMD",
      "hgvs": [
        "ENST00000682478.1:n.762+21C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827468"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 783,
          "referenceAllele": "C",
          "start": 782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003331",
      "geneNCBI_id": 2010,
      "geneSymbol": "EMD",
      "hgvs": [
        "ENST00000683576.1:n.783C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828549"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 593,
          "referenceAllele": "C",
          "start": 592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003331",
      "geneNCBI_id": 2010,
      "geneSymbol": "EMD",
      "hgvs": [
        "ENST00000683627.1:c.593C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507533.1:p.Ser198Phe",
        "hgvsWellDefined": "ENSP00000507533.1:p.Ser198Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828599"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 550,
          "referenceAllele": "C",
          "start": 549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003331",
      "geneNCBI_id": 2010,
      "geneSymbol": "EMD",
      "hgvs": [
        "ENST00000684082.1:c.550C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508266.1:n.550C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829041"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 565,
          "referenceAllele": "C",
          "start": 564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003331",
      "geneNCBI_id": 2010,
      "geneSymbol": "EMD",
      "hgvs": [
        "ENST00000684633.1:n.565C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829584"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 568,
          "endIntronDirection": "+",
          "endIntronOffset": 21,
          "referenceAllele": "C",
          "start": 568,
          "startIntronDirection": "+",
          "startIntronOffset": 20
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003331",
      "geneNCBI_id": 2010,
      "geneSymbol": "EMD",
      "hgvs": [
        "ENST00000684678.1:c.568+21C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507059.1:n.568+21C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829629"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 783,
          "referenceAllele": "C",
          "start": 782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003331",
      "geneNCBI_id": 2010,
      "geneSymbol": "EMD",
      "hgvs": [
        "ENST00000369842.9:c.593C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358857.4:p.Ser198Phe",
        "hgvsWellDefined": "ENSP00000358857.4:p.Ser198Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750485",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369842.9:c.593C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000117.3:c.593C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358857.4:p.Ser198Phe"
          },
          "RefSeq": {
            "hgvs": "NP_000108.1:p.Ser198Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 700,
          "referenceAllele": "C",
          "start": 699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003331",
      "geneNCBI_id": 2010,
      "geneSymbol": "EMD",
      "hgvs": [
        "ENST00000369835.3:c.488C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358850.3:p.Ser163Phe",
        "hgvsWellDefined": "ENSP00000358850.3:p.Ser163Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267733"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 881,
          "referenceAllele": "C",
          "start": 880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003331",
      "geneNCBI_id": 2010,
      "geneSymbol": "EMD",
      "hgvs": [
        "ENST00000369842.8:c.593C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358857.4:p.Ser198Phe",
        "hgvsWellDefined": "ENSP00000358857.4:p.Ser198Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267738"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 688,
          "referenceAllele": "C",
          "start": 687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003331",
      "geneNCBI_id": 2010,
      "geneSymbol": "EMD",
      "hgvs": [
        "ENST00000428228.5:c.*498C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000401081.1:n.*498C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290095"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 382,
          "referenceAllele": "C",
          "start": 381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003331",
      "geneNCBI_id": 2010,
      "geneSymbol": "EMD",
      "hgvs": [
        "ENST00000471965.1:n.382C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314043"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1030,
          "referenceAllele": "C",
          "start": 1029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003331",
      "geneNCBI_id": 2010,
      "geneSymbol": "EMD",
      "hgvs": [
        "ENST00000486738.5:n.1030C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325473"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 576,
          "referenceAllele": "C",
          "start": 575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003331",
      "geneNCBI_id": 2010,
      "geneSymbol": "EMD",
      "hgvs": [
        "ENST00000492448.1:n.576C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS329827"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499228593",
      "coordinates": [
        {
          "allele": "T",
          "end": 841,
          "referenceAllele": "C",
          "start": 840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003331",
      "geneNCBI_id": 2010,
      "geneSymbol": "EMD",
      "hgvs": [
        "NM_000117.2:c.593C>T",
        "LRG_745t1:c.593C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000108.1:p.Ser198Phe",
        "hgvsWellDefined": "NP_000108.1:p.Ser198Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006179"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1056,
          "referenceAllele": "C",
          "start": 1055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003331",
      "geneNCBI_id": 2010,
      "geneSymbol": "EMD",
      "hgvs": [
        "XM_024452349.1:c.599C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308117.1:p.Ser200Phe",
        "hgvsWellDefined": "XP_024308117.1:p.Ser200Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585844"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499228593",
      "coordinates": [
        {
          "allele": "T",
          "end": 783,
          "referenceAllele": "C",
          "start": 782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003331",
      "geneNCBI_id": 2010,
      "geneSymbol": "EMD",
      "hgvs": [
        "NM_000117.3:c.593C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000108.1:p.Ser198Phe",
        "hgvsWellDefined": "NP_000108.1:p.Ser198Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674709",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369842.9:c.593C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000117.3:c.593C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358857.4:p.Ser198Phe"
          },
          "RefSeq": {
            "hgvs": "NP_000108.1:p.Ser198Phe"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}