{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA117534",
  "communityStandardTitle": [
    "NM_004924.6(ACTN4):c.784T>C (p.Ser262Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20461[alleleid]",
        "alleleId": 20461,
        "preferredName": "NM_004924.6(ACTN4):c.784T>C (p.Ser262Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5422",
        "RCV": [
          "RCV000005755"
        ],
        "variationId": 5422
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.39200947T>C?assembly=hg19",
        "id": "chr19:g.39200947T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.38710307T>C?assembly=hg38",
        "id": "chr19:g.38710307T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121908417",
        "rs": 121908417
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 38710307,
          "referenceAllele": "T",
          "start": 38710306
        }
      ],
      "hgvs": [
        "NC_000019.10:g.38710307T>C",
        "CM000681.2:g.38710307T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 39200947,
          "referenceAllele": "T",
          "start": 39200946
        }
      ],
      "hgvs": [
        "NC_000019.9:g.39200947T>C",
        "CM000681.1:g.39200947T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 43892787,
          "referenceAllele": "T",
          "start": 43892786
        }
      ],
      "hgvs": [
        "NC_000019.8:g.43892787T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 67621,
          "referenceAllele": "T",
          "start": 67620
        }
      ],
      "hgvs": [
        "NG_007082.2:g.67621T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000462"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 830,
          "endIntronDirection": "+",
          "endIntronOffset": 831,
          "referenceAllele": "T",
          "start": 830,
          "startIntronDirection": "+",
          "startIntronOffset": 830
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000166",
      "geneNCBI_id": 81,
      "geneSymbol": "ACTN4",
      "hgvs": [
        "ENST00000440400.3:c.733+831T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398393.2:n.733+831T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904912"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 643,
          "referenceAllele": "T",
          "start": 642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000166",
      "geneNCBI_id": 81,
      "geneSymbol": "ACTN4",
      "hgvs": [
        "ENST00000697712.1:c.643T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513410.1:p.Ser215Pro",
        "hgvsWellDefined": "ENSP00000513410.1:p.Ser215Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908924"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 881,
          "referenceAllele": "T",
          "start": 880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000166",
      "geneNCBI_id": 81,
      "geneSymbol": "ACTN4",
      "hgvs": [
        "ENST00000252699.7:c.784T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000252699.2:p.Ser262Pro",
        "hgvsWellDefined": "ENSP00000252699.2:p.Ser262Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741550",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000252699.7:c.784T>C"
          },
          "RefSeq": {
            "hgvs": "NM_004924.6:c.784T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000252699.2:p.Ser262Pro"
          },
          "RefSeq": {
            "hgvs": "NP_004915.2:p.Ser262Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 819,
          "endIntronDirection": "+",
          "endIntronOffset": 831,
          "referenceAllele": "T",
          "start": 819,
          "startIntronDirection": "+",
          "startIntronOffset": 830
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000166",
      "geneNCBI_id": 81,
      "geneSymbol": "ACTN4",
      "hgvs": [
        "ENST00000424234.7:c.733+831T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411187.4:n.733+831T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755021"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 819,
          "endIntronDirection": "+",
          "endIntronOffset": 831,
          "referenceAllele": "T",
          "start": 819,
          "startIntronDirection": "+",
          "startIntronOffset": 830
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000166",
      "geneNCBI_id": 81,
      "geneSymbol": "ACTN4",
      "hgvs": [
        "ENST00000440400.2:c.733+831T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398393.2:n.733+831T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755794"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 860,
          "referenceAllele": "T",
          "start": 859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000166",
      "geneNCBI_id": 81,
      "geneSymbol": "ACTN4",
      "hgvs": [
        "ENST00000252699.6:c.784T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000252699.2:p.Ser262Pro",
        "hgvsWellDefined": "ENSP00000252699.2:p.Ser262Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249847"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 170,
          "endIntronDirection": "-",
          "endIntronOffset": 4161,
          "referenceAllele": "T",
          "start": 170,
          "startIntronDirection": "-",
          "startIntronOffset": 4162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000166",
      "geneNCBI_id": 81,
      "geneSymbol": "ACTN4",
      "hgvs": [
        "ENST00000390009.7:c.163-4162T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439497.1:n.163-4162T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274342"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 272,
          "endIntronDirection": "+",
          "endIntronOffset": 9598,
          "referenceAllele": "T",
          "start": 272,
          "startIntronDirection": "+",
          "startIntronOffset": 9597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000166",
      "geneNCBI_id": 81,
      "geneSymbol": "ACTN4",
      "hgvs": [
        "ENST00000424234.6:c.272+9598T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411187.3:n.272+9598T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS288157"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 136,
          "endIntronDirection": "+",
          "endIntronOffset": 831,
          "referenceAllele": "T",
          "start": 136,
          "startIntronDirection": "+",
          "startIntronOffset": 830
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000166",
      "geneNCBI_id": 81,
      "geneSymbol": "ACTN4",
      "hgvs": [
        "ENST00000586538.1:c.136+831T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465176.1:n.136+831T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS389457"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 881,
          "referenceAllele": "T",
          "start": 880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000166",
      "geneNCBI_id": 81,
      "geneSymbol": "ACTN4",
      "hgvs": [
        "ENST00000588618.5:n.881T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS390907"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 285,
          "endIntronDirection": "+",
          "endIntronOffset": 9593,
          "referenceAllele": "T",
          "start": 285,
          "startIntronDirection": "+",
          "startIntronOffset": 9592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000166",
      "geneNCBI_id": 81,
      "geneSymbol": "ACTN4",
      "hgvs": [
        "ENST00000589528.1:c.285+9593T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS391550"
    },
    {
      "@id": "http://reg.genome.network/allele/PA097976",
      "coordinates": [
        {
          "allele": "C",
          "end": 903,
          "referenceAllele": "T",
          "start": 902
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000166",
      "geneNCBI_id": 81,
      "geneSymbol": "ACTN4",
      "hgvs": [
        "NM_004924.4:c.784T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004915.2:p.Ser262Pro",
        "hgvsWellDefined": "NP_004915.2:p.Ser262Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030058"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 914,
          "referenceAllele": "T",
          "start": 913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000166",
      "geneNCBI_id": 81,
      "geneSymbol": "ACTN4",
      "hgvs": [
        "XM_005259281.3:c.784T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259338.1:p.Ser262Pro",
        "hgvsWellDefined": "XP_005259338.1:p.Ser262Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062370"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 863,
          "endIntronDirection": "+",
          "endIntronOffset": 831,
          "referenceAllele": "T",
          "start": 863,
          "startIntronDirection": "+",
          "startIntronOffset": 830
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000166",
      "geneNCBI_id": 81,
      "geneSymbol": "ACTN4",
      "hgvs": [
        "XM_005259282.3:c.733+831T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259339.1:n.733+831T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062371"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 863,
          "endIntronDirection": "+",
          "endIntronOffset": 831,
          "referenceAllele": "T",
          "start": 863,
          "startIntronDirection": "+",
          "startIntronOffset": 830
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000166",
      "geneNCBI_id": 81,
      "geneSymbol": "ACTN4",
      "hgvs": [
        "XM_006723406.1:c.733+831T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723469.1:n.733+831T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075039"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 863,
          "endIntronDirection": "+",
          "endIntronOffset": 831,
          "referenceAllele": "T",
          "start": 863,
          "startIntronDirection": "+",
          "startIntronOffset": 830
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000166",
      "geneNCBI_id": 81,
      "geneSymbol": "ACTN4",
      "hgvs": [
        "NM_001322033.1:c.733+831T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308962.1:n.733+831T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514698"
    },
    {
      "@id": "http://reg.genome.network/allele/PA097976",
      "coordinates": [
        {
          "allele": "C",
          "end": 914,
          "referenceAllele": "T",
          "start": 913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000166",
      "geneNCBI_id": 81,
      "geneSymbol": "ACTN4",
      "hgvs": [
        "NM_004924.5:c.784T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004915.2:p.Ser262Pro",
        "hgvsWellDefined": "NP_004915.2:p.Ser262Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525263"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 843,
          "referenceAllele": "T",
          "start": 842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000166",
      "geneNCBI_id": 81,
      "geneSymbol": "ACTN4",
      "hgvs": [
        "XM_005259281.5:c.784T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259338.1:p.Ser262Pro",
        "hgvsWellDefined": "XP_005259338.1:p.Ser262Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534976"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 792,
          "endIntronDirection": "+",
          "endIntronOffset": 831,
          "referenceAllele": "T",
          "start": 792,
          "startIntronDirection": "+",
          "startIntronOffset": 830
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000166",
      "geneNCBI_id": 81,
      "geneSymbol": "ACTN4",
      "hgvs": [
        "XM_006723406.3:c.733+831T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723469.1:n.733+831T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540760"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 843,
          "referenceAllele": "T",
          "start": 842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000166",
      "geneNCBI_id": 81,
      "geneSymbol": "ACTN4",
      "hgvs": [
        "XM_017027331.2:c.784T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016882820.1:p.Ser262Pro",
        "hgvsWellDefined": "XP_016882820.1:p.Ser262Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577299"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 122,
          "endIntronDirection": "-",
          "endIntronOffset": 8142,
          "referenceAllele": "A",
          "start": 122,
          "startIntronDirection": "-",
          "startIntronOffset": 8143
        }
      ],
      "hgvs": [
        "XR_001753937.1:n.123-8143A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600329"
    },
    {
      "@id": "http://reg.genome.network/allele/PA097976",
      "coordinates": [
        {
          "allele": "C",
          "end": 881,
          "referenceAllele": "T",
          "start": 880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000166",
      "geneNCBI_id": 81,
      "geneSymbol": "ACTN4",
      "hgvs": [
        "NM_004924.6:c.784T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004915.2:p.Ser262Pro",
        "hgvsWellDefined": "NP_004915.2:p.Ser262Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666724",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000252699.7:c.784T>C"
          },
          "RefSeq": {
            "hgvs": "NM_004924.6:c.784T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000252699.2:p.Ser262Pro"
          },
          "RefSeq": {
            "hgvs": "NP_004915.2:p.Ser262Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 830,
          "endIntronDirection": "+",
          "endIntronOffset": 831,
          "referenceAllele": "T",
          "start": 830,
          "startIntronDirection": "+",
          "startIntronOffset": 830
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000166",
      "geneNCBI_id": 81,
      "geneSymbol": "ACTN4",
      "hgvs": [
        "NM_001322033.2:c.733+831T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308962.1:n.733+831T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685630"
    }
  ],
  "type": "nucleotide"
}