{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3201244",
  "communityStandardTitle": [
    "NM_001369.3(DNAH5):c.13775G>A (p.Arg4592Gln)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1176716",
        "active": true,
        "id": "COSM1176716"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=239718[alleleid]",
        "alleleId": 239718,
        "preferredName": "NM_001369.3(DNAH5):c.13775G>A (p.Arg4592Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/238964",
        "RCV": [
          "RCV000229430",
          "RCV000670498"
        ],
        "variationId": 238964
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-13692193-C-T",
        "id": "5-13692193-C-T",
        "variant": "5:13692193 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.13692193C>T?assembly=hg19",
        "id": "chr5:g.13692193C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.13692084C>T?assembly=hg38",
        "id": "chr5:g.13692084C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/367709427",
        "rs": 367709427
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-13692193-C-T?dataset=gnomad_r2_1",
        "id": "5-13692193-C-T",
        "variant": "5:13692193 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-13692084-C-T?dataset=gnomad_r3",
        "id": "5-13692084-C-T",
        "variant": "5:13692084 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-13692084-C-T?dataset=gnomad_r4",
        "id": "5-13692084-C-T",
        "variant": "5:13692084 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 13692084,
          "referenceAllele": "C",
          "start": 13692083
        }
      ],
      "hgvs": [
        "NC_000005.10:g.13692084C>T",
        "CM000667.2:g.13692084C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 13692193,
          "referenceAllele": "C",
          "start": 13692192
        }
      ],
      "hgvs": [
        "NC_000005.9:g.13692193C>T",
        "CM000667.1:g.13692193C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 13745193,
          "referenceAllele": "C",
          "start": 13745192
        }
      ],
      "hgvs": [
        "NC_000005.8:g.13745193C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 257397,
          "referenceAllele": "G",
          "start": 257396
        }
      ],
      "hgvs": [
        "NG_013081.1:g.257397G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002704"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 257397,
          "referenceAllele": "G",
          "start": 257396
        }
      ],
      "hgvs": [
        "NG_013081.2:g.257397G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673632"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1108,
          "referenceAllele": "G",
          "start": 1107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000683611.1:n.1108G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828583"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14025,
          "referenceAllele": "G",
          "start": 14024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000265104.5:c.13775G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265104.4:p.Arg4592Gln",
        "hgvsWellDefined": "ENSP00000265104.4:p.Arg4592Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742788",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265104.5:c.13775G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001369.3:c.13775G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265104.4:p.Arg4592Gln"
          },
          "RefSeq": {
            "hgvs": "NP_001360.1:p.Arg4592Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13889,
          "referenceAllele": "G",
          "start": 13888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000681290.1:c.13730G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505288.1:p.Arg4577Gln",
        "hgvsWellDefined": "ENSP00000505288.1:p.Arg4577Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780901"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13880,
          "referenceAllele": "G",
          "start": 13879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000265104.4:c.13775G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265104.4:p.Arg4592Gln",
        "hgvsWellDefined": "ENSP00000265104.4:p.Arg4592Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251673"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645389796",
      "coordinates": [
        {
          "allele": "A",
          "end": 13817,
          "referenceAllele": "G",
          "start": 13816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "NM_001369.2:c.13775G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001360.1:p.Arg4592Gln",
        "hgvsWellDefined": "NP_001360.1:p.Arg4592Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026756"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13830,
          "referenceAllele": "G",
          "start": 13829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_005248262.2:c.13730G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248319.1:p.Arg4577Gln",
        "hgvsWellDefined": "XP_005248319.1:p.Arg4577Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058370"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13900,
          "referenceAllele": "G",
          "start": 13899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_005248262.3:c.13883G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248319.2:p.Arg4628Gln",
        "hgvsWellDefined": "XP_005248319.2:p.Arg4628Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533031"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13480,
          "referenceAllele": "G",
          "start": 13479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009177.1:c.13463G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864666.1:p.Arg4488Gln",
        "hgvsWellDefined": "XP_016864666.1:p.Arg4488Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563535"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14703,
          "referenceAllele": "G",
          "start": 14702
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009178.1:c.12788G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864667.1:p.Arg4263Gln",
        "hgvsWellDefined": "XP_016864667.1:p.Arg4263Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563536"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12926,
          "referenceAllele": "G",
          "start": 12925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009179.2:c.12788G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864668.1:p.Arg4263Gln",
        "hgvsWellDefined": "XP_016864668.1:p.Arg4263Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563537"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9196,
          "referenceAllele": "G",
          "start": 9195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009185.1:c.8972G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864674.1:p.Arg2991Gln",
        "hgvsWellDefined": "XP_016864674.1:p.Arg2991Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563543"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8612,
          "referenceAllele": "G",
          "start": 8611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009186.1:c.8525G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864675.1:p.Arg2842Gln",
        "hgvsWellDefined": "XP_016864675.1:p.Arg2842Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563544"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9428,
          "referenceAllele": "G",
          "start": 9427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009188.1:c.7862G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864677.1:p.Arg2621Gln",
        "hgvsWellDefined": "XP_016864677.1:p.Arg2621Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563546"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 16573,
          "referenceAllele": "G",
          "start": 16572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_024454388.1:c.12788G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024310156.1:p.Arg4263Gln",
        "hgvsWellDefined": "XP_024310156.1:p.Arg4263Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587750"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 15215,
          "referenceAllele": "G",
          "start": 15214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_024454389.1:c.12377G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024310157.1:p.Arg4126Gln",
        "hgvsWellDefined": "XP_024310157.1:p.Arg4126Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587751"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645389796",
      "coordinates": [
        {
          "allele": "A",
          "end": 14025,
          "referenceAllele": "G",
          "start": 14024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "NM_001369.3:c.13775G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001360.1:p.Arg4592Gln",
        "hgvsWellDefined": "NP_001360.1:p.Arg4592Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721135",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265104.5:c.13775G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001369.3:c.13775G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265104.4:p.Arg4592Gln"
          },
          "RefSeq": {
            "hgvs": "NP_001360.1:p.Arg4592Gln"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}