{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA401687840",
  "communityStandardTitle": [
    "NM_015295.3(SMCHD1):c.320T>C (p.Leu107Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=424974[alleleid]",
        "alleleId": 424974,
        "preferredName": "NM_015295.3(SMCHD1):c.320T>C (p.Leu107Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/431461",
        "RCV": [
          "RCV000497010"
        ],
        "variationId": 431461
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.2666926T>C?assembly=hg19",
        "id": "chr18:g.2666926T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.2666927T>C?assembly=hg38",
        "id": "chr18:g.2666927T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1135402737",
        "rs": 1135402737
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "C",
          "end": 2666927,
          "referenceAllele": "T",
          "start": 2666926
        }
      ],
      "hgvs": [
        "NC_000018.10:g.2666927T>C",
        "CM000680.2:g.2666927T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "C",
          "end": 2666926,
          "referenceAllele": "T",
          "start": 2666925
        }
      ],
      "hgvs": [
        "NC_000018.9:g.2666926T>C",
        "CM000680.1:g.2666926T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "C",
          "end": 2656926,
          "referenceAllele": "T",
          "start": 2656925
        }
      ],
      "hgvs": [
        "NC_000018.8:g.2656926T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 16041,
          "referenceAllele": "T",
          "start": 16040
        }
      ],
      "hgvs": [
        "NG_031972.1:g.16041T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005067"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 477,
          "referenceAllele": "T",
          "start": 476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029090",
      "geneNCBI_id": 23347,
      "geneSymbol": "SMCHD1",
      "hgvs": [
        "ENST00000684915.1:n.477T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829792"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 670,
          "referenceAllele": "T",
          "start": 669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029090",
      "geneNCBI_id": 23347,
      "geneSymbol": "SMCHD1",
      "hgvs": [
        "ENST00000688342.1:c.320T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508422.1:p.Leu107Pro",
        "hgvsWellDefined": "ENSP00000508422.1:p.Leu107Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831579"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 670,
          "referenceAllele": "T",
          "start": 669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029090",
      "geneNCBI_id": 23347,
      "geneSymbol": "SMCHD1",
      "hgvs": [
        "ENST00000320876.11:c.320T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326603.7:p.Leu107Pro",
        "hgvsWellDefined": "ENSP00000326603.7:p.Leu107Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746384",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000320876.11:c.320T>C"
          },
          "RefSeq": {
            "hgvs": "NM_015295.3:c.320T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000326603.7:p.Leu107Pro"
          },
          "RefSeq": {
            "hgvs": "NP_056110.2:p.Leu107Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 658,
          "referenceAllele": "T",
          "start": 657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029090",
      "geneNCBI_id": 23347,
      "geneSymbol": "SMCHD1",
      "hgvs": [
        "ENST00000320876.10:c.320T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326603.6:p.Leu107Pro",
        "hgvsWellDefined": "ENSP00000326603.6:p.Leu107Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257871"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645491894",
      "coordinates": [
        {
          "allele": "C",
          "end": 509,
          "referenceAllele": "T",
          "start": 508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029090",
      "geneNCBI_id": 23347,
      "geneSymbol": "SMCHD1",
      "hgvs": [
        "NM_015295.2:c.320T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_056110.2:p.Leu107Pro",
        "hgvsWellDefined": "NP_056110.2:p.Leu107Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033903"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 509,
          "referenceAllele": "T",
          "start": 508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029090",
      "geneNCBI_id": 23347,
      "geneSymbol": "SMCHD1",
      "hgvs": [
        "XM_011525642.1:c.320T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523944.1:p.Leu107Pro",
        "hgvsWellDefined": "XP_011523944.1:p.Leu107Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092760"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 509,
          "referenceAllele": "T",
          "start": 508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029090",
      "geneNCBI_id": 23347,
      "geneSymbol": "SMCHD1",
      "hgvs": [
        "XM_011525643.1:c.320T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523945.1:p.Leu107Pro",
        "hgvsWellDefined": "XP_011523945.1:p.Leu107Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092761"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 135,
          "referenceAllele": "T",
          "start": 134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029090",
      "geneNCBI_id": 23347,
      "geneSymbol": "SMCHD1",
      "hgvs": [
        "XM_011525644.1:c.-65T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523946.1:n.-65T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092762"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 509,
          "referenceAllele": "T",
          "start": 508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029090",
      "geneNCBI_id": 23347,
      "geneSymbol": "SMCHD1",
      "hgvs": [
        "XM_011525646.1:c.320T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523948.1:p.Leu107Pro",
        "hgvsWellDefined": "XP_011523948.1:p.Leu107Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092764"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 509,
          "referenceAllele": "T",
          "start": 508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029090",
      "geneNCBI_id": 23347,
      "geneSymbol": "SMCHD1",
      "hgvs": [
        "XM_011525647.1:c.320T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523949.1:p.Leu107Pro",
        "hgvsWellDefined": "XP_011523949.1:p.Leu107Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092765"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 509,
          "referenceAllele": "T",
          "start": 508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029090",
      "geneNCBI_id": 23347,
      "geneSymbol": "SMCHD1",
      "hgvs": [
        "XR_430039.1:n.509T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118574"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 509,
          "referenceAllele": "T",
          "start": 508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029090",
      "geneNCBI_id": 23347,
      "geneSymbol": "SMCHD1",
      "hgvs": [
        "XR_935054.1:n.509T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS130336"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 509,
          "referenceAllele": "T",
          "start": 508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029090",
      "geneNCBI_id": 23347,
      "geneSymbol": "SMCHD1",
      "hgvs": [
        "XR_935055.1:n.509T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS130337"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 509,
          "referenceAllele": "T",
          "start": 508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029090",
      "geneNCBI_id": 23347,
      "geneSymbol": "SMCHD1",
      "hgvs": [
        "XM_011525643.2:c.320T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523945.1:p.Leu107Pro",
        "hgvsWellDefined": "XP_011523945.1:p.Leu107Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547958"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 509,
          "referenceAllele": "T",
          "start": 508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029090",
      "geneNCBI_id": 23347,
      "geneSymbol": "SMCHD1",
      "hgvs": [
        "XM_017025684.1:c.-423T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881173.1:n.-423T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575986"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 509,
          "referenceAllele": "T",
          "start": 508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029090",
      "geneNCBI_id": 23347,
      "geneSymbol": "SMCHD1",
      "hgvs": [
        "XR_001753172.1:n.509T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599771"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 509,
          "referenceAllele": "T",
          "start": 508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029090",
      "geneNCBI_id": 23347,
      "geneSymbol": "SMCHD1",
      "hgvs": [
        "XR_001753173.1:n.509T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599772"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 509,
          "referenceAllele": "T",
          "start": 508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029090",
      "geneNCBI_id": 23347,
      "geneSymbol": "SMCHD1",
      "hgvs": [
        "XR_001753174.1:n.509T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599773"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 509,
          "referenceAllele": "T",
          "start": 508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029090",
      "geneNCBI_id": 23347,
      "geneSymbol": "SMCHD1",
      "hgvs": [
        "XR_001753175.1:n.509T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599774"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 509,
          "referenceAllele": "T",
          "start": 508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029090",
      "geneNCBI_id": 23347,
      "geneSymbol": "SMCHD1",
      "hgvs": [
        "XR_001753176.1:n.509T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599775"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 509,
          "referenceAllele": "T",
          "start": 508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029090",
      "geneNCBI_id": 23347,
      "geneSymbol": "SMCHD1",
      "hgvs": [
        "XR_001753177.1:n.509T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599776"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 509,
          "referenceAllele": "T",
          "start": 508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029090",
      "geneNCBI_id": 23347,
      "geneSymbol": "SMCHD1",
      "hgvs": [
        "XR_001753178.1:n.509T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599777"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 509,
          "referenceAllele": "T",
          "start": 508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029090",
      "geneNCBI_id": 23347,
      "geneSymbol": "SMCHD1",
      "hgvs": [
        "XR_001753179.1:n.509T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599778"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 509,
          "referenceAllele": "T",
          "start": 508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029090",
      "geneNCBI_id": 23347,
      "geneSymbol": "SMCHD1",
      "hgvs": [
        "XR_935055.2:n.509T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610871"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645491894",
      "coordinates": [
        {
          "allele": "C",
          "end": 670,
          "referenceAllele": "T",
          "start": 669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029090",
      "geneNCBI_id": 23347,
      "geneSymbol": "SMCHD1",
      "hgvs": [
        "NM_015295.3:c.320T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_056110.2:p.Leu107Pro",
        "hgvsWellDefined": "NP_056110.2:p.Leu107Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697502",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000320876.11:c.320T>C"
          },
          "RefSeq": {
            "hgvs": "NM_015295.3:c.320T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000326603.7:p.Leu107Pro"
          },
          "RefSeq": {
            "hgvs": "NP_056110.2:p.Leu107Pro"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}