{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3202266",
  "communityStandardTitle": [
    "NM_001369.3(DNAH5):c.10367C>T (p.Ala3456Val)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1250378",
        "active": true,
        "id": "COSM1250378"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=394983[alleleid]",
        "alleleId": 394983,
        "preferredName": "NM_001369.3(DNAH5):c.10367C>T (p.Ala3456Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/407230",
        "RCV": [
          "RCV000477490",
          "RCV001153064"
        ],
        "variationId": 407230
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-13759007-G-A",
        "id": "5-13759007-G-A",
        "variant": "5:13759007 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.13759007G>A?assembly=hg19",
        "id": "chr5:g.13759007G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.13758898G>A?assembly=hg38",
        "id": "chr5:g.13758898G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/149956015",
        "rs": 149956015
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-13759007-G-A?dataset=gnomad_r2_1",
        "id": "5-13759007-G-A",
        "variant": "5:13759007 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-13758898-G-A?dataset=gnomad_r3",
        "id": "5-13758898-G-A",
        "variant": "5:13758898 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-13758898-G-A?dataset=gnomad_r4",
        "id": "5-13758898-G-A",
        "variant": "5:13758898 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 13758898,
          "referenceAllele": "G",
          "start": 13758897
        }
      ],
      "hgvs": [
        "NC_000005.10:g.13758898G>A",
        "CM000667.2:g.13758898G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 13759007,
          "referenceAllele": "G",
          "start": 13759006
        }
      ],
      "hgvs": [
        "NC_000005.9:g.13759007G>A",
        "CM000667.1:g.13759007G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 13812007,
          "referenceAllele": "G",
          "start": 13812006
        }
      ],
      "hgvs": [
        "NC_000005.8:g.13812007G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 190583,
          "referenceAllele": "C",
          "start": 190582
        }
      ],
      "hgvs": [
        "NG_013081.1:g.190583C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002704"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 190583,
          "referenceAllele": "C",
          "start": 190582
        }
      ],
      "hgvs": [
        "NG_013081.2:g.190583C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673632"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10617,
          "referenceAllele": "C",
          "start": 10616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000265104.5:c.10367C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265104.4:p.Ala3456Val",
        "hgvsWellDefined": "ENSP00000265104.4:p.Ala3456Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742788",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265104.5:c.10367C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001369.3:c.10367C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265104.4:p.Ala3456Val"
          },
          "RefSeq": {
            "hgvs": "NP_001360.1:p.Ala3456Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10481,
          "referenceAllele": "C",
          "start": 10480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000681290.1:c.10322C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505288.1:p.Ala3441Val",
        "hgvsWellDefined": "ENSP00000505288.1:p.Ala3441Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780901"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10472,
          "referenceAllele": "C",
          "start": 10471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000265104.4:c.10367C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265104.4:p.Ala3456Val",
        "hgvsWellDefined": "ENSP00000265104.4:p.Ala3456Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251673"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645389092",
      "coordinates": [
        {
          "allele": "T",
          "end": 10409,
          "referenceAllele": "C",
          "start": 10408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "NM_001369.2:c.10367C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001360.1:p.Ala3456Val",
        "hgvsWellDefined": "NP_001360.1:p.Ala3456Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026756"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10422,
          "referenceAllele": "C",
          "start": 10421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_005248262.2:c.10322C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248319.1:p.Ala3441Val",
        "hgvsWellDefined": "XP_005248319.1:p.Ala3441Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058370"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10492,
          "referenceAllele": "C",
          "start": 10491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_005248262.3:c.10475C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248319.2:p.Ala3492Val",
        "hgvsWellDefined": "XP_005248319.2:p.Ala3492Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533031"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10492,
          "referenceAllele": "C",
          "start": 10491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009177.1:c.10475C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864666.1:p.Ala3492Val",
        "hgvsWellDefined": "XP_016864666.1:p.Ala3492Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563535"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11295,
          "referenceAllele": "C",
          "start": 11294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009178.1:c.9380C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864667.1:p.Ala3127Val",
        "hgvsWellDefined": "XP_016864667.1:p.Ala3127Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563536"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9518,
          "referenceAllele": "C",
          "start": 9517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009179.2:c.9380C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864668.1:p.Ala3127Val",
        "hgvsWellDefined": "XP_016864668.1:p.Ala3127Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563537"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10492,
          "referenceAllele": "C",
          "start": 10491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009180.1:c.10475C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864669.1:p.Ala3492Val",
        "hgvsWellDefined": "XP_016864669.1:p.Ala3492Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563538"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10492,
          "referenceAllele": "C",
          "start": 10491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009181.1:c.10475C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864670.1:p.Ala3492Val",
        "hgvsWellDefined": "XP_016864670.1:p.Ala3492Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563539"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10492,
          "referenceAllele": "C",
          "start": 10491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009182.1:c.10475C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864671.1:p.Ala3492Val",
        "hgvsWellDefined": "XP_016864671.1:p.Ala3492Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563540"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5788,
          "referenceAllele": "C",
          "start": 5787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009185.1:c.5564C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864674.1:p.Ala1855Val",
        "hgvsWellDefined": "XP_016864674.1:p.Ala1855Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563543"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5204,
          "referenceAllele": "C",
          "start": 5203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009186.1:c.5117C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864675.1:p.Ala1706Val",
        "hgvsWellDefined": "XP_016864675.1:p.Ala1706Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563544"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6020,
          "referenceAllele": "C",
          "start": 6019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009188.1:c.4454C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864677.1:p.Ala1485Val",
        "hgvsWellDefined": "XP_016864677.1:p.Ala1485Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563546"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13165,
          "referenceAllele": "C",
          "start": 13164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_024454388.1:c.9380C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024310156.1:p.Ala3127Val",
        "hgvsWellDefined": "XP_024310156.1:p.Ala3127Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587750"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11807,
          "referenceAllele": "C",
          "start": 11806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_024454389.1:c.8969C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024310157.1:p.Ala2990Val",
        "hgvsWellDefined": "XP_024310157.1:p.Ala2990Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587751"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645389092",
      "coordinates": [
        {
          "allele": "T",
          "end": 10617,
          "referenceAllele": "C",
          "start": 10616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "NM_001369.3:c.10367C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001360.1:p.Ala3456Val",
        "hgvsWellDefined": "NP_001360.1:p.Ala3456Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721135",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265104.5:c.10367C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001369.3:c.10367C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265104.4:p.Ala3456Val"
          },
          "RefSeq": {
            "hgvs": "NP_001360.1:p.Ala3456Val"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}