{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10588848",
  "communityStandardTitle": [
    "NM_001235.5(SERPINH1):c.710T>C (p.Met237Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=260581[alleleid]",
        "alleleId": 260581,
        "preferredName": "NM_001235.5(SERPINH1):c.710T>C (p.Met237Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/265865",
        "RCV": [
          "RCV000256253",
          "RCV002521861"
        ],
        "variationId": 265865
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.75279863T>C?assembly=hg19",
        "id": "chr11:g.75279863T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.75568818T>C?assembly=hg38",
        "id": "chr11:g.75568818T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/886039819",
        "rs": 886039819
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-75568818-T-C?dataset=gnomad_r3",
        "id": "11-75568818-T-C",
        "variant": "11:75568818 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-75568818-T-C?dataset=gnomad_r4",
        "id": "11-75568818-T-C",
        "variant": "11:75568818 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 75568818,
          "referenceAllele": "T",
          "start": 75568817
        }
      ],
      "hgvs": [
        "NC_000011.10:g.75568818T>C",
        "CM000673.2:g.75568818T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 75279863,
          "referenceAllele": "T",
          "start": 75279862
        }
      ],
      "hgvs": [
        "NC_000011.9:g.75279863T>C",
        "CM000673.1:g.75279863T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 74957511,
          "referenceAllele": "T",
          "start": 74957510
        }
      ],
      "hgvs": [
        "NC_000011.8:g.74957511T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 11694,
          "referenceAllele": "T",
          "start": 11693
        }
      ],
      "hgvs": [
        "NG_012052.1:g.11694T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002138"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 811,
          "referenceAllele": "T",
          "start": 810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001546",
      "geneNCBI_id": 871,
      "geneSymbol": "SERPINH1",
      "hgvs": [
        "ENST00000358171.8:c.710T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350894.4:p.Met237Thr",
        "hgvsWellDefined": "ENSP00000350894.4:p.Met237Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749036",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358171.8:c.710T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001235.5:c.710T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350894.4:p.Met237Thr"
          },
          "RefSeq": {
            "hgvs": "NP_001226.2:p.Met237Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 864,
          "referenceAllele": "T",
          "start": 863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001546",
      "geneNCBI_id": 871,
      "geneSymbol": "SERPINH1",
      "hgvs": [
        "ENST00000533449.6:c.710T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431827.2:p.Met237Thr",
        "hgvsWellDefined": "ENSP00000431827.2:p.Met237Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759342"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 891,
          "referenceAllele": "T",
          "start": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001546",
      "geneNCBI_id": 871,
      "geneSymbol": "SERPINH1",
      "hgvs": [
        "ENST00000649490.1:c.710T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497544.1:p.Met237Thr",
        "hgvsWellDefined": "ENSP00000497544.1:p.Met237Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770571"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 978,
          "referenceAllele": "T",
          "start": 977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001546",
      "geneNCBI_id": 871,
      "geneSymbol": "SERPINH1",
      "hgvs": [
        "ENST00000358171.7:c.710T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350894.3:p.Met237Thr",
        "hgvsWellDefined": "ENSP00000350894.3:p.Met237Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264362"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2145,
          "referenceAllele": "T",
          "start": 2144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001546",
      "geneNCBI_id": 871,
      "geneSymbol": "SERPINH1",
      "hgvs": [
        "ENST00000524558.5:c.710T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434412.1:p.Met237Thr",
        "hgvsWellDefined": "ENSP00000434412.1:p.Met237Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS350697"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 941,
          "referenceAllele": "T",
          "start": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001546",
      "geneNCBI_id": 871,
      "geneSymbol": "SERPINH1",
      "hgvs": [
        "ENST00000525611.5:c.710T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435452.1:p.Met237Thr",
        "hgvsWellDefined": "ENSP00000435452.1:p.Met237Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS351605"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1037,
          "referenceAllele": "T",
          "start": 1036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001546",
      "geneNCBI_id": 871,
      "geneSymbol": "SERPINH1",
      "hgvs": [
        "ENST00000525876.1:c.59T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433532.1:p.Met20Thr",
        "hgvsWellDefined": "ENSP00000433532.1:p.Met20Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS351827"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 843,
          "referenceAllele": "T",
          "start": 842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001546",
      "geneNCBI_id": 871,
      "geneSymbol": "SERPINH1",
      "hgvs": [
        "ENST00000526397.5:c.710T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434964.1:p.Met237Thr",
        "hgvsWellDefined": "ENSP00000434964.1:p.Met237Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352273"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 855,
          "referenceAllele": "T",
          "start": 854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001546",
      "geneNCBI_id": 871,
      "geneSymbol": "SERPINH1",
      "hgvs": [
        "ENST00000530284.5:c.710T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436305.1:p.Met237Thr",
        "hgvsWellDefined": "ENSP00000436305.1:p.Met237Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS355563"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 821,
          "referenceAllele": "T",
          "start": 820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001546",
      "geneNCBI_id": 871,
      "geneSymbol": "SERPINH1",
      "hgvs": [
        "ENST00000532356.5:c.710T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436040.1:p.Met237Thr",
        "hgvsWellDefined": "ENSP00000436040.1:p.Met237Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS357302"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1052,
          "referenceAllele": "T",
          "start": 1051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001546",
      "geneNCBI_id": 871,
      "geneSymbol": "SERPINH1",
      "hgvs": [
        "ENST00000533603.5:c.710T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434657.1:p.Met237Thr",
        "hgvsWellDefined": "ENSP00000434657.1:p.Met237Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS358345"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826292751",
      "coordinates": [
        {
          "allele": "C",
          "end": 1052,
          "referenceAllele": "T",
          "start": 1051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001546",
      "geneNCBI_id": 871,
      "geneSymbol": "SERPINH1",
      "hgvs": [
        "NM_001207014.1:c.710T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001193943.1:p.Met237Thr",
        "hgvsWellDefined": "NP_001193943.1:p.Met237Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017953"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645472202",
      "coordinates": [
        {
          "allele": "C",
          "end": 1008,
          "referenceAllele": "T",
          "start": 1007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001546",
      "geneNCBI_id": 871,
      "geneSymbol": "SERPINH1",
      "hgvs": [
        "NM_001235.3:c.710T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001226.2:p.Met237Thr",
        "hgvsWellDefined": "NP_001226.2:p.Met237Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018051"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 835,
          "referenceAllele": "T",
          "start": 834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001546",
      "geneNCBI_id": 871,
      "geneSymbol": "SERPINH1",
      "hgvs": [
        "XM_006718729.1:c.710T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718792.1:p.Met237Thr",
        "hgvsWellDefined": "XP_006718792.1:p.Met237Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072760"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 941,
          "referenceAllele": "T",
          "start": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001546",
      "geneNCBI_id": 871,
      "geneSymbol": "SERPINH1",
      "hgvs": [
        "XM_011545326.1:c.710T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543628.1:p.Met237Thr",
        "hgvsWellDefined": "XP_011543628.1:p.Met237Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112230"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 821,
          "referenceAllele": "T",
          "start": 820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001546",
      "geneNCBI_id": 871,
      "geneSymbol": "SERPINH1",
      "hgvs": [
        "XM_011545327.1:c.710T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543629.1:p.Met237Thr",
        "hgvsWellDefined": "XP_011543629.1:p.Met237Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112231"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1222,
          "referenceAllele": "T",
          "start": 1221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001546",
      "geneNCBI_id": 871,
      "geneSymbol": "SERPINH1",
      "hgvs": [
        "XM_024448756.1:c.710T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304524.1:p.Met237Thr",
        "hgvsWellDefined": "XP_024304524.1:p.Met237Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582324"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826292751",
      "coordinates": [
        {
          "allele": "C",
          "end": 855,
          "referenceAllele": "T",
          "start": 854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001546",
      "geneNCBI_id": 871,
      "geneSymbol": "SERPINH1",
      "hgvs": [
        "NM_001207014.2:c.710T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001193943.1:p.Met237Thr",
        "hgvsWellDefined": "NP_001193943.1:p.Met237Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645472202",
      "coordinates": [
        {
          "allele": "C",
          "end": 811,
          "referenceAllele": "T",
          "start": 810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001546",
      "geneNCBI_id": 871,
      "geneSymbol": "SERPINH1",
      "hgvs": [
        "NM_001235.5:c.710T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001226.2:p.Met237Thr",
        "hgvsWellDefined": "NP_001226.2:p.Met237Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680045",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358171.8:c.710T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001235.5:c.710T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350894.4:p.Met237Thr"
          },
          "RefSeq": {
            "hgvs": "NP_001226.2:p.Met237Thr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826292751",
      "coordinates": [
        {
          "allele": "C",
          "end": 855,
          "referenceAllele": "T",
          "start": 854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001546",
      "geneNCBI_id": 871,
      "geneSymbol": "SERPINH1",
      "hgvs": [
        "NM_001207014.3:c.710T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001193943.1:p.Met237Thr",
        "hgvsWellDefined": "NP_001193943.1:p.Met237Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714275"
    }
  ],
  "type": "nucleotide"
}