{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA241426",
  "communityStandardTitle": [
    "NM_001235.5(SERPINH1):c.580C>A (p.Arg194Ser)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1235751",
        "active": true,
        "id": "COSM1235751"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=192304[alleleid]",
        "alleleId": 192304,
        "preferredName": "NM_001235.5(SERPINH1):c.580C>A (p.Arg194Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/195143",
        "RCV": [
          "RCV000175693",
          "RCV000261310",
          "RCV000763776",
          "RCV003330534"
        ],
        "variationId": 195143
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-75277974-C-A",
        "id": "11-75277974-C-A",
        "variant": "11:75277974 C / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.75277974C>A?assembly=hg19",
        "id": "chr11:g.75277974C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.75566929C>A?assembly=hg38",
        "id": "chr11:g.75566929C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/141721173",
        "rs": 141721173
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-75277974-C-A?dataset=gnomad_r2_1",
        "id": "11-75277974-C-A",
        "variant": "11:75277974 C / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-75566929-C-A?dataset=gnomad_r3",
        "id": "11-75566929-C-A",
        "variant": "11:75566929 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-75566929-C-A?dataset=gnomad_r4",
        "id": "11-75566929-C-A",
        "variant": "11:75566929 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 75566929,
          "referenceAllele": "C",
          "start": 75566928
        }
      ],
      "hgvs": [
        "NC_000011.10:g.75566929C>A",
        "CM000673.2:g.75566929C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 75277974,
          "referenceAllele": "C",
          "start": 75277973
        }
      ],
      "hgvs": [
        "NC_000011.9:g.75277974C>A",
        "CM000673.1:g.75277974C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 74955622,
          "referenceAllele": "C",
          "start": 74955621
        }
      ],
      "hgvs": [
        "NC_000011.8:g.74955622C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9805,
          "referenceAllele": "C",
          "start": 9804
        }
      ],
      "hgvs": [
        "NG_012052.1:g.9805C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002138"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 681,
          "referenceAllele": "C",
          "start": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001546",
      "geneNCBI_id": 871,
      "geneSymbol": "SERPINH1",
      "hgvs": [
        "ENST00000358171.8:c.580C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350894.4:p.Arg194Ser",
        "hgvsWellDefined": "ENSP00000350894.4:p.Arg194Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749036",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358171.8:c.580C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001235.5:c.580C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350894.4:p.Arg194Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001226.2:p.Arg194Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 734,
          "referenceAllele": "C",
          "start": 733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001546",
      "geneNCBI_id": 871,
      "geneSymbol": "SERPINH1",
      "hgvs": [
        "ENST00000533449.6:c.580C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431827.2:p.Arg194Ser",
        "hgvsWellDefined": "ENSP00000431827.2:p.Arg194Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759342"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 761,
          "referenceAllele": "C",
          "start": 760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001546",
      "geneNCBI_id": 871,
      "geneSymbol": "SERPINH1",
      "hgvs": [
        "ENST00000649490.1:c.580C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497544.1:p.Arg194Ser",
        "hgvsWellDefined": "ENSP00000497544.1:p.Arg194Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770571"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 848,
          "referenceAllele": "C",
          "start": 847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001546",
      "geneNCBI_id": 871,
      "geneSymbol": "SERPINH1",
      "hgvs": [
        "ENST00000358171.7:c.580C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350894.3:p.Arg194Ser",
        "hgvsWellDefined": "ENSP00000350894.3:p.Arg194Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264362"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2015,
          "referenceAllele": "C",
          "start": 2014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001546",
      "geneNCBI_id": 871,
      "geneSymbol": "SERPINH1",
      "hgvs": [
        "ENST00000524558.5:c.580C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434412.1:p.Arg194Ser",
        "hgvsWellDefined": "ENSP00000434412.1:p.Arg194Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS350697"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 811,
          "referenceAllele": "C",
          "start": 810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001546",
      "geneNCBI_id": 871,
      "geneSymbol": "SERPINH1",
      "hgvs": [
        "ENST00000525611.5:c.580C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435452.1:p.Arg194Ser",
        "hgvsWellDefined": "ENSP00000435452.1:p.Arg194Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS351605"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 713,
          "referenceAllele": "C",
          "start": 712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001546",
      "geneNCBI_id": 871,
      "geneSymbol": "SERPINH1",
      "hgvs": [
        "ENST00000526397.5:c.580C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434964.1:p.Arg194Ser",
        "hgvsWellDefined": "ENSP00000434964.1:p.Arg194Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352273"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 743,
          "referenceAllele": "C",
          "start": 742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001546",
      "geneNCBI_id": 871,
      "geneSymbol": "SERPINH1",
      "hgvs": [
        "ENST00000528760.1:c.580C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437108.1:p.Arg194Ser",
        "hgvsWellDefined": "ENSP00000437108.1:p.Arg194Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS354251"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 725,
          "referenceAllele": "C",
          "start": 724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001546",
      "geneNCBI_id": 871,
      "geneSymbol": "SERPINH1",
      "hgvs": [
        "ENST00000530284.5:c.580C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436305.1:p.Arg194Ser",
        "hgvsWellDefined": "ENSP00000436305.1:p.Arg194Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS355563"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 691,
          "referenceAllele": "C",
          "start": 690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001546",
      "geneNCBI_id": 871,
      "geneSymbol": "SERPINH1",
      "hgvs": [
        "ENST00000532356.5:c.580C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436040.1:p.Arg194Ser",
        "hgvsWellDefined": "ENSP00000436040.1:p.Arg194Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS357302"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 922,
          "referenceAllele": "C",
          "start": 921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001546",
      "geneNCBI_id": 871,
      "geneSymbol": "SERPINH1",
      "hgvs": [
        "ENST00000533603.5:c.580C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434657.1:p.Arg194Ser",
        "hgvsWellDefined": "ENSP00000434657.1:p.Arg194Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS358345"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826292739",
      "coordinates": [
        {
          "allele": "A",
          "end": 922,
          "referenceAllele": "C",
          "start": 921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001546",
      "geneNCBI_id": 871,
      "geneSymbol": "SERPINH1",
      "hgvs": [
        "NM_001207014.1:c.580C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001193943.1:p.Arg194Ser",
        "hgvsWellDefined": "NP_001193943.1:p.Arg194Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017953"
    },
    {
      "@id": "http://reg.genome.network/allele/PA241427",
      "coordinates": [
        {
          "allele": "A",
          "end": 878,
          "referenceAllele": "C",
          "start": 877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001546",
      "geneNCBI_id": 871,
      "geneSymbol": "SERPINH1",
      "hgvs": [
        "NM_001235.3:c.580C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001226.2:p.Arg194Ser",
        "hgvsWellDefined": "NP_001226.2:p.Arg194Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018051"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 705,
          "referenceAllele": "C",
          "start": 704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001546",
      "geneNCBI_id": 871,
      "geneSymbol": "SERPINH1",
      "hgvs": [
        "XM_006718729.1:c.580C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718792.1:p.Arg194Ser",
        "hgvsWellDefined": "XP_006718792.1:p.Arg194Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072760"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 811,
          "referenceAllele": "C",
          "start": 810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001546",
      "geneNCBI_id": 871,
      "geneSymbol": "SERPINH1",
      "hgvs": [
        "XM_011545326.1:c.580C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543628.1:p.Arg194Ser",
        "hgvsWellDefined": "XP_011543628.1:p.Arg194Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112230"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 691,
          "referenceAllele": "C",
          "start": 690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001546",
      "geneNCBI_id": 871,
      "geneSymbol": "SERPINH1",
      "hgvs": [
        "XM_011545327.1:c.580C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543629.1:p.Arg194Ser",
        "hgvsWellDefined": "XP_011543629.1:p.Arg194Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112231"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1092,
          "referenceAllele": "C",
          "start": 1091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001546",
      "geneNCBI_id": 871,
      "geneSymbol": "SERPINH1",
      "hgvs": [
        "XM_024448756.1:c.580C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304524.1:p.Arg194Ser",
        "hgvsWellDefined": "XP_024304524.1:p.Arg194Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582324"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826292739",
      "coordinates": [
        {
          "allele": "A",
          "end": 725,
          "referenceAllele": "C",
          "start": 724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001546",
      "geneNCBI_id": 871,
      "geneSymbol": "SERPINH1",
      "hgvs": [
        "NM_001207014.2:c.580C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001193943.1:p.Arg194Ser",
        "hgvsWellDefined": "NP_001193943.1:p.Arg194Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA241427",
      "coordinates": [
        {
          "allele": "A",
          "end": 681,
          "referenceAllele": "C",
          "start": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001546",
      "geneNCBI_id": 871,
      "geneSymbol": "SERPINH1",
      "hgvs": [
        "NM_001235.5:c.580C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001226.2:p.Arg194Ser",
        "hgvsWellDefined": "NP_001226.2:p.Arg194Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680045",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358171.8:c.580C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001235.5:c.580C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350894.4:p.Arg194Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001226.2:p.Arg194Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826292739",
      "coordinates": [
        {
          "allele": "A",
          "end": 725,
          "referenceAllele": "C",
          "start": 724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001546",
      "geneNCBI_id": 871,
      "geneSymbol": "SERPINH1",
      "hgvs": [
        "NM_001207014.3:c.580C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001193943.1:p.Arg194Ser",
        "hgvsWellDefined": "NP_001193943.1:p.Arg194Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714275"
    }
  ],
  "type": "nucleotide"
}