{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA243459448",
  "communityStandardTitle": [
    "NM_000431.4(MVK):c.721C>T (p.Arg241Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1385505[alleleid]",
        "alleleId": 1385505,
        "preferredName": "NM_000431.4(MVK):c.721C>T (p.Arg241Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1472357",
        "RCV": [
          "RCV001969264"
        ],
        "variationId": 1472357
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.110028619C>T?assembly=hg19",
        "id": "chr12:g.110028619C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.109590814C>T?assembly=hg38",
        "id": "chr12:g.109590814C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/758427037",
        "rs": 758427037
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-110028619-C-T?dataset=gnomad_r2_1",
        "id": "12-110028619-C-T",
        "variant": "12:110028619 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-109590814-C-T?dataset=gnomad_r4",
        "id": "12-109590814-C-T",
        "variant": "12:109590814 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 109590814,
          "referenceAllele": "C",
          "start": 109590813
        }
      ],
      "hgvs": [
        "NC_000012.12:g.109590814C>T",
        "CM000674.2:g.109590814C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 110028619,
          "referenceAllele": "C",
          "start": 110028618
        }
      ],
      "hgvs": [
        "NC_000012.11:g.110028619C>T",
        "CM000674.1:g.110028619C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 108513002,
          "referenceAllele": "C",
          "start": 108513001
        }
      ],
      "hgvs": [
        "NC_000012.10:g.108513002C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 22120,
          "referenceAllele": "C",
          "start": 22119
        }
      ],
      "hgvs": [
        "NG_007702.1:g.22120C>T",
        "LRG_156:g.22120C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000671"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 69,
          "endIntronDirection": "-",
          "endIntronOffset": 31,
          "referenceAllele": "C",
          "start": 69,
          "startIntronDirection": "-",
          "startIntronOffset": 32
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000539696.6:c.-91-32C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439134.1:n.-91-32C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905776"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1027,
          "referenceAllele": "C",
          "start": 1026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000546277.6:c.721C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438153.2:p.Arg241Cys",
        "hgvsWellDefined": "ENSP00000438153.2:p.Arg241Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905811"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 360,
          "referenceAllele": "C",
          "start": 359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000636529.2:n.360C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS906356"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1744,
          "referenceAllele": "C",
          "start": 1743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000697195.1:c.*485C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513181.1:n.*485C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908600"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 819,
          "referenceAllele": "C",
          "start": 818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000697196.1:c.809C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513182.1:p.Ser270Leu",
        "hgvsWellDefined": "ENSP00000513182.1:p.Ser270Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908601"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2371,
          "referenceAllele": "C",
          "start": 2370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000697197.1:n.2371C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908602"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 815,
          "referenceAllele": "C",
          "start": 814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000228510.8:c.721C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000228510.3:p.Arg241Cys",
        "hgvsWellDefined": "ENSP00000228510.3:p.Arg241Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740750",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000228510.8:c.721C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000431.4:c.721C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000228510.3:p.Arg241Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000422.1:p.Arg241Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 346,
          "referenceAllele": "C",
          "start": 345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000636529.1:c.346C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763186"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 569,
          "referenceAllele": "C",
          "start": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000636996.1:c.569C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763532"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 797,
          "referenceAllele": "C",
          "start": 796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000228510.7:c.721C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000228510.3:p.Arg241Cys",
        "hgvsWellDefined": "ENSP00000228510.3:p.Arg241Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248629"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 616,
          "referenceAllele": "C",
          "start": 615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000392727.7:c.565C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376487.3:p.Arg189Cys",
        "hgvsWellDefined": "ENSP00000376487.3:p.Arg189Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275255"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 515,
          "referenceAllele": "C",
          "start": 514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000447878.6:c.*168C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415555.2:n.*168C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299472"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 869,
          "endIntronDirection": "-",
          "endIntronOffset": 426,
          "referenceAllele": "C",
          "start": 869,
          "startIntronDirection": "-",
          "startIntronOffset": 427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000537237.5:c.*442-427C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445382.1:n.*442-427C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360671"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 737,
          "referenceAllele": "C",
          "start": 736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000539575.4:c.721C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443551.2:p.Arg241Cys",
        "hgvsWellDefined": "ENSP00000443551.2:p.Arg241Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361933"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 69,
          "endIntronDirection": "-",
          "endIntronOffset": 31,
          "referenceAllele": "C",
          "start": 69,
          "startIntronDirection": "-",
          "startIntronOffset": 32
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000539696.5:c.-91-32C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439134.1:n.-91-32C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361998"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2954,
          "referenceAllele": "C",
          "start": 2953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000540353.1:n.2954C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS362348"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 581,
          "referenceAllele": "C",
          "start": 580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000625889.2:c.565C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486846.1:p.Arg189Cys",
        "hgvsWellDefined": "ENSP00000486846.1:p.Arg189Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406638"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 436,
          "referenceAllele": "C",
          "start": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000629016.2:c.*168C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486804.1:n.*168C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407151"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825169765",
      "coordinates": [
        {
          "allele": "T",
          "end": 914,
          "referenceAllele": "C",
          "start": 913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "NM_000431.3:c.721C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000422.1:p.Arg241Cys",
        "hgvsWellDefined": "NP_000422.1:p.Arg241Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006493"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573179249",
      "coordinates": [
        {
          "allele": "T",
          "end": 905,
          "referenceAllele": "C",
          "start": 904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "NM_001114185.2:c.721C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107657.1:p.Arg241Cys",
        "hgvsWellDefined": "NP_001107657.1:p.Arg241Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011315"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826866370",
      "coordinates": [
        {
          "allele": "T",
          "end": 758,
          "referenceAllele": "C",
          "start": 757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "NM_001301182.1:c.565C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001288111.1:p.Arg189Cys",
        "hgvsWellDefined": "NP_001288111.1:p.Arg189Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025140"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 954,
          "referenceAllele": "C",
          "start": 953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "XM_011538372.1:c.721C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536674.1:p.Arg241Cys",
        "hgvsWellDefined": "XP_011536674.1:p.Arg241Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105329"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 653,
          "referenceAllele": "C",
          "start": 652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "XM_017019313.2:c.565C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874802.1:p.Arg189Cys",
        "hgvsWellDefined": "XP_016874802.1:p.Arg189Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571050"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1380,
          "referenceAllele": "C",
          "start": 1379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "XM_017019314.1:c.721C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874803.1:p.Arg241Cys",
        "hgvsWellDefined": "XP_016874803.1:p.Arg241Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571051"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 846,
          "referenceAllele": "C",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "XM_024448982.1:c.721C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304750.1:p.Arg241Cys",
        "hgvsWellDefined": "XP_024304750.1:p.Arg241Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582547"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825169765",
      "coordinates": [
        {
          "allele": "T",
          "end": 815,
          "referenceAllele": "C",
          "start": 814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "NM_000431.4:c.721C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000422.1:p.Arg241Cys",
        "hgvsWellDefined": "NP_000422.1:p.Arg241Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662441",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000228510.8:c.721C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000431.4:c.721C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000228510.3:p.Arg241Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000422.1:p.Arg241Cys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573179249",
      "coordinates": [
        {
          "allele": "T",
          "end": 806,
          "referenceAllele": "C",
          "start": 805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "NM_001114185.3:c.721C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107657.1:p.Arg241Cys",
        "hgvsWellDefined": "NP_001107657.1:p.Arg241Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676743"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826866370",
      "coordinates": [
        {
          "allele": "T",
          "end": 659,
          "referenceAllele": "C",
          "start": 658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "NM_001301182.2:c.565C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001288111.1:p.Arg189Cys",
        "hgvsWellDefined": "NP_001288111.1:p.Arg189Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683373"
    }
  ],
  "type": "nucleotide"
}