{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3790506",
  "communityStandardTitle": [
    "NM_001206927.2(DNAH8):c.9574A>G (p.Met3192Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=395794[alleleid]",
        "alleleId": 395794,
        "preferredName": "NM_001206927.2(DNAH8):c.9574A>G (p.Met3192Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/414381",
        "RCV": [
          "RCV000476023",
          "RCV003915297"
        ],
        "variationId": 414381
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/6-38877354-A-G",
        "id": "6-38877354-A-G",
        "variant": "6:38877354 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.38877354A>G?assembly=hg19",
        "id": "chr6:g.38877354A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.38909578A>G?assembly=hg38",
        "id": "chr6:g.38909578A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/140935840",
        "rs": 140935840
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-38877354-A-G?dataset=gnomad_r2_1",
        "id": "6-38877354-A-G",
        "variant": "6:38877354 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-38909578-A-G?dataset=gnomad_r3",
        "id": "6-38909578-A-G",
        "variant": "6:38909578 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-38909578-A-G?dataset=gnomad_r4",
        "id": "6-38909578-A-G",
        "variant": "6:38909578 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 38909578,
          "referenceAllele": "A",
          "start": 38909577
        }
      ],
      "hgvs": [
        "NC_000006.12:g.38909578A>G",
        "CM000668.2:g.38909578A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 38877354,
          "referenceAllele": "A",
          "start": 38877353
        }
      ],
      "hgvs": [
        "NC_000006.11:g.38877354A>G",
        "CM000668.1:g.38877354A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 38985332,
          "referenceAllele": "A",
          "start": 38985331
        }
      ],
      "hgvs": [
        "NC_000006.10:g.38985332A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 199238,
          "referenceAllele": "A",
          "start": 199237
        }
      ],
      "hgvs": [
        "NG_041805.1:g.199238A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005875"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9713,
          "referenceAllele": "A",
          "start": 9712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002952",
      "geneNCBI_id": 1769,
      "geneSymbol": "DNAH8",
      "hgvs": [
        "ENST00000327475.11:c.9574A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000333363.7:p.Met3192Val",
        "hgvsWellDefined": "ENSP00000333363.7:p.Met3192Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746844",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000327475.11:c.9574A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001206927.2:c.9574A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000333363.7:p.Met3192Val"
          },
          "RefSeq": {
            "hgvs": "NP_001193856.1:p.Met3192Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9683,
          "referenceAllele": "A",
          "start": 9682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002952",
      "geneNCBI_id": 1769,
      "geneSymbol": "DNAH8",
      "hgvs": [
        "ENST00000327475.10:c.9574A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000333363.7:p.Met3192Val",
        "hgvsWellDefined": "ENSP00000333363.7:p.Met3192Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258772"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9177,
          "referenceAllele": "A",
          "start": 9176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002952",
      "geneNCBI_id": 1769,
      "geneSymbol": "DNAH8",
      "hgvs": [
        "ENST00000359357.7:c.8923A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352312.3:p.Met2975Val",
        "hgvsWellDefined": "ENSP00000352312.3:p.Met2975Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264768"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9574,
          "referenceAllele": "A",
          "start": 9573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002952",
      "geneNCBI_id": 1769,
      "geneSymbol": "DNAH8",
      "hgvs": [
        "ENST00000449981.6:c.9574A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415331.2:p.Met3192Val",
        "hgvsWellDefined": "ENSP00000415331.2:p.Met3192Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300483"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645421865",
      "coordinates": [
        {
          "allele": "G",
          "end": 9683,
          "referenceAllele": "A",
          "start": 9682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002952",
      "geneNCBI_id": 1769,
      "geneSymbol": "DNAH8",
      "hgvs": [
        "NM_001206927.1:c.9574A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001193856.1:p.Met3192Val",
        "hgvsWellDefined": "NP_001193856.1:p.Met3192Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017897"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 782,
          "endIntronDirection": "-",
          "endIntronOffset": 1740,
          "referenceAllele": "T",
          "start": 782,
          "startIntronDirection": "-",
          "startIntronOffset": 1741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN040188",
      "geneNCBI_id": 100131047,
      "geneSymbol": "DNAH8-AS1",
      "hgvs": [
        "NR_038401.1:n.783-1741T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050448"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9628,
          "referenceAllele": "A",
          "start": 9627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002952",
      "geneNCBI_id": 1769,
      "geneSymbol": "DNAH8",
      "hgvs": [
        "XM_011514318.1:c.9511A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512620.1:p.Met3171Val",
        "hgvsWellDefined": "XP_011512620.1:p.Met3171Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081543"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9583,
          "referenceAllele": "A",
          "start": 9582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002952",
      "geneNCBI_id": 1769,
      "geneSymbol": "DNAH8",
      "hgvs": [
        "XM_011514319.1:c.9466A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512621.1:p.Met3156Val",
        "hgvsWellDefined": "XP_011512621.1:p.Met3156Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081544"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9454,
          "referenceAllele": "A",
          "start": 9453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002952",
      "geneNCBI_id": 1769,
      "geneSymbol": "DNAH8",
      "hgvs": [
        "XM_011514320.1:c.9337A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512622.1:p.Met3113Val",
        "hgvsWellDefined": "XP_011512622.1:p.Met3113Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081545"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9041,
          "referenceAllele": "A",
          "start": 9040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002952",
      "geneNCBI_id": 1769,
      "geneSymbol": "DNAH8",
      "hgvs": [
        "XM_011514321.1:c.8923A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512623.1:p.Met2975Val",
        "hgvsWellDefined": "XP_011512623.1:p.Met2975Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081546"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9691,
          "referenceAllele": "A",
          "start": 9690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002952",
      "geneNCBI_id": 1769,
      "geneSymbol": "DNAH8",
      "hgvs": [
        "XR_926078.1:n.9691A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS122763"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828550471",
      "coordinates": [
        {
          "allele": "G",
          "end": 9598,
          "referenceAllele": "A",
          "start": 9597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002952",
      "geneNCBI_id": 1769,
      "geneSymbol": "DNAH8",
      "hgvs": [
        "NM_001371.3:c.8923A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362.2:p.Met2975Val",
        "hgvsWellDefined": "NP_001362.2:p.Met2975Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524865"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9631,
          "referenceAllele": "A",
          "start": 9630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002952",
      "geneNCBI_id": 1769,
      "geneSymbol": "DNAH8",
      "hgvs": [
        "XM_011514318.2:c.9511A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512620.1:p.Met3171Val",
        "hgvsWellDefined": "XP_011512620.1:p.Met3171Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543269"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9586,
          "referenceAllele": "A",
          "start": 9585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002952",
      "geneNCBI_id": 1769,
      "geneSymbol": "DNAH8",
      "hgvs": [
        "XM_011514319.2:c.9466A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512621.1:p.Met3156Val",
        "hgvsWellDefined": "XP_011512621.1:p.Met3156Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543270"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9457,
          "referenceAllele": "A",
          "start": 9456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002952",
      "geneNCBI_id": 1769,
      "geneSymbol": "DNAH8",
      "hgvs": [
        "XM_011514320.2:c.9337A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512622.1:p.Met3113Val",
        "hgvsWellDefined": "XP_011512622.1:p.Met3113Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543271"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9694,
          "referenceAllele": "A",
          "start": 9693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002952",
      "geneNCBI_id": 1769,
      "geneSymbol": "DNAH8",
      "hgvs": [
        "XM_017010325.1:c.9574A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865814.1:p.Met3192Val",
        "hgvsWellDefined": "XP_016865814.1:p.Met3192Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564420"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9694,
          "referenceAllele": "A",
          "start": 9693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002952",
      "geneNCBI_id": 1769,
      "geneSymbol": "DNAH8",
      "hgvs": [
        "XM_017010326.1:c.9574A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865815.1:p.Met3192Val",
        "hgvsWellDefined": "XP_016865815.1:p.Met3192Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564421"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9694,
          "referenceAllele": "A",
          "start": 9693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002952",
      "geneNCBI_id": 1769,
      "geneSymbol": "DNAH8",
      "hgvs": [
        "XR_926078.2:n.9694A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS608154"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645421865",
      "coordinates": [
        {
          "allele": "G",
          "end": 9713,
          "referenceAllele": "A",
          "start": 9712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002952",
      "geneNCBI_id": 1769,
      "geneSymbol": "DNAH8",
      "hgvs": [
        "NM_001206927.2:c.9574A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001193856.1:p.Met3192Val",
        "hgvsWellDefined": "NP_001193856.1:p.Met3192Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679972",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000327475.11:c.9574A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001206927.2:c.9574A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000333363.7:p.Met3192Val"
          },
          "RefSeq": {
            "hgvs": "NP_001193856.1:p.Met3192Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828550471",
      "coordinates": [
        {
          "allele": "G",
          "end": 9628,
          "referenceAllele": "A",
          "start": 9627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002952",
      "geneNCBI_id": 1769,
      "geneSymbol": "DNAH8",
      "hgvs": [
        "NM_001371.4:c.8923A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362.2:p.Met2975Val",
        "hgvsWellDefined": "NP_001362.2:p.Met2975Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692613"
    }
  ],
  "type": "nucleotide"
}