{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3201602",
  "communityStandardTitle": [
    "NM_001369.3(DNAH5):c.12523G>A (p.Val4175Met)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=239722[alleleid]",
        "alleleId": 239722,
        "preferredName": "NM_001369.3(DNAH5):c.12523G>A (p.Val4175Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/238960",
        "RCV": [
          "RCV000226198",
          "RCV000674761",
          "RCV001200467"
        ],
        "variationId": 238960
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-13717606-C-T",
        "id": "5-13717606-C-T",
        "variant": "5:13717606 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.13717606C>T?assembly=hg19",
        "id": "chr5:g.13717606C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.13717497C>T?assembly=hg38",
        "id": "chr5:g.13717497C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/148123430",
        "rs": 148123430
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-13717606-C-T?dataset=gnomad_r2_1",
        "id": "5-13717606-C-T",
        "variant": "5:13717606 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-13717497-C-T?dataset=gnomad_r3",
        "id": "5-13717497-C-T",
        "variant": "5:13717497 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-13717497-C-T?dataset=gnomad_r4",
        "id": "5-13717497-C-T",
        "variant": "5:13717497 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 13717497,
          "referenceAllele": "C",
          "start": 13717496
        }
      ],
      "hgvs": [
        "NC_000005.10:g.13717497C>T",
        "CM000667.2:g.13717497C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 13717606,
          "referenceAllele": "C",
          "start": 13717605
        }
      ],
      "hgvs": [
        "NC_000005.9:g.13717606C>T",
        "CM000667.1:g.13717606C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 13770606,
          "referenceAllele": "C",
          "start": 13770605
        }
      ],
      "hgvs": [
        "NC_000005.8:g.13770606C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 231984,
          "referenceAllele": "G",
          "start": 231983
        }
      ],
      "hgvs": [
        "NG_013081.1:g.231984G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002704"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 231984,
          "referenceAllele": "G",
          "start": 231983
        }
      ],
      "hgvs": [
        "NG_013081.2:g.231984G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673632"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12773,
          "referenceAllele": "G",
          "start": 12772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000265104.5:c.12523G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265104.4:p.Val4175Met",
        "hgvsWellDefined": "ENSP00000265104.4:p.Val4175Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742788",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265104.5:c.12523G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001369.3:c.12523G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265104.4:p.Val4175Met"
          },
          "RefSeq": {
            "hgvs": "NP_001360.1:p.Val4175Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12637,
          "referenceAllele": "G",
          "start": 12636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000681290.1:c.12478G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505288.1:p.Val4160Met",
        "hgvsWellDefined": "ENSP00000505288.1:p.Val4160Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780901"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12628,
          "referenceAllele": "G",
          "start": 12627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000265104.4:c.12523G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265104.4:p.Val4175Met",
        "hgvsWellDefined": "ENSP00000265104.4:p.Val4175Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251673"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645389445",
      "coordinates": [
        {
          "allele": "A",
          "end": 12565,
          "referenceAllele": "G",
          "start": 12564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "NM_001369.2:c.12523G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001360.1:p.Val4175Met",
        "hgvsWellDefined": "NP_001360.1:p.Val4175Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026756"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12578,
          "referenceAllele": "G",
          "start": 12577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_005248262.2:c.12478G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248319.1:p.Val4160Met",
        "hgvsWellDefined": "XP_005248319.1:p.Val4160Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058370"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12648,
          "referenceAllele": "G",
          "start": 12647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_005248262.3:c.12631G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248319.2:p.Val4211Met",
        "hgvsWellDefined": "XP_005248319.2:p.Val4211Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533031"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12648,
          "referenceAllele": "G",
          "start": 12647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009177.1:c.12631G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864666.1:p.Val4211Met",
        "hgvsWellDefined": "XP_016864666.1:p.Val4211Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563535"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13451,
          "referenceAllele": "G",
          "start": 13450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009178.1:c.11536G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864667.1:p.Val3846Met",
        "hgvsWellDefined": "XP_016864667.1:p.Val3846Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563536"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11674,
          "referenceAllele": "G",
          "start": 11673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009179.2:c.11536G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864668.1:p.Val3846Met",
        "hgvsWellDefined": "XP_016864668.1:p.Val3846Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563537"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12648,
          "referenceAllele": "G",
          "start": 12647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009180.1:c.12631G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864669.1:p.Val4211Met",
        "hgvsWellDefined": "XP_016864669.1:p.Val4211Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563538"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7944,
          "referenceAllele": "G",
          "start": 7943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009185.1:c.7720G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864674.1:p.Val2574Met",
        "hgvsWellDefined": "XP_016864674.1:p.Val2574Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563543"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7360,
          "referenceAllele": "G",
          "start": 7359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009186.1:c.7273G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864675.1:p.Val2425Met",
        "hgvsWellDefined": "XP_016864675.1:p.Val2425Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563544"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8176,
          "referenceAllele": "G",
          "start": 8175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009188.1:c.6610G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864677.1:p.Val2204Met",
        "hgvsWellDefined": "XP_016864677.1:p.Val2204Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563546"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 15321,
          "referenceAllele": "G",
          "start": 15320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_024454388.1:c.11536G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024310156.1:p.Val3846Met",
        "hgvsWellDefined": "XP_024310156.1:p.Val3846Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587750"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13963,
          "referenceAllele": "G",
          "start": 13962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_024454389.1:c.11125G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024310157.1:p.Val3709Met",
        "hgvsWellDefined": "XP_024310157.1:p.Val3709Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587751"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645389445",
      "coordinates": [
        {
          "allele": "A",
          "end": 12773,
          "referenceAllele": "G",
          "start": 12772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "NM_001369.3:c.12523G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001360.1:p.Val4175Met",
        "hgvsWellDefined": "NP_001360.1:p.Val4175Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721135",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265104.5:c.12523G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001369.3:c.12523G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265104.4:p.Val4175Met"
          },
          "RefSeq": {
            "hgvs": "NP_001360.1:p.Val4175Met"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}