{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA273603",
  "communityStandardTitle": [
    "NM_016239.4(MYO15A):c.10136C>A (p.Ser3379Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=176488[alleleid]",
        "alleleId": 176488,
        "preferredName": "NM_016239.4(MYO15A):c.10136C>A (p.Ser3379Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/179222",
        "RCV": [
          "RCV000156009"
        ],
        "variationId": 179222
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.18075005C>A?assembly=hg19",
        "id": "chr17:g.18075005C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.18171691C>A?assembly=hg38",
        "id": "chr17:g.18171691C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/546575046",
        "rs": 546575046
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-18171691-C-A?dataset=gnomad_r4",
        "id": "17-18171691-C-A",
        "variant": "17:18171691 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 18171691,
          "referenceAllele": "C",
          "start": 18171690
        }
      ],
      "hgvs": [
        "NC_000017.11:g.18171691C>A",
        "CM000679.2:g.18171691C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 18075005,
          "referenceAllele": "C",
          "start": 18075004
        }
      ],
      "hgvs": [
        "NC_000017.10:g.18075005C>A",
        "CM000679.1:g.18075005C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 18015730,
          "referenceAllele": "C",
          "start": 18015729
        }
      ],
      "hgvs": [
        "NC_000017.9:g.18015730C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 67986,
          "referenceAllele": "C",
          "start": 67985
        }
      ],
      "hgvs": [
        "NG_011634.1:g.67986C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001869"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 67986,
          "referenceAllele": "C",
          "start": 67985
        }
      ],
      "hgvs": [
        "NG_011634.2:g.67986C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673552"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2540,
          "referenceAllele": "C",
          "start": 2539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007594",
      "geneNCBI_id": 51168,
      "geneSymbol": "MYO15A",
      "hgvs": [
        "ENST00000642418.1:n.2540C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766731"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2078,
          "referenceAllele": "C",
          "start": 2077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007594",
      "geneNCBI_id": 51168,
      "geneSymbol": "MYO15A",
      "hgvs": [
        "ENST00000643693.1:n.2078C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767416"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2222,
          "referenceAllele": "C",
          "start": 2221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007594",
      "geneNCBI_id": 51168,
      "geneSymbol": "MYO15A",
      "hgvs": [
        "ENST00000644795.1:c.1928C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495720.1:p.Ser643Ter",
        "hgvsWellDefined": "ENSP00000495720.1:p.Ser643_Pro716delinsThrTrpLeuAsnLeuValSerGlnHisArgGlnGlnThrGlnAlaLeuSerProHisGlnAlaArgAlaGlnPheLeuGluLeuGlnGlnHisCysCysAlaSerProLeuHisProCysHisGlnProGlnTrpProGlnLeuSerGlnHisArgAspSerTrpThrGlyThrValSerCysGlyGlyArgAlaArgGlyGluProAlaGlnCysProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2870,
          "referenceAllele": "C",
          "start": 2869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007594",
      "geneNCBI_id": 51168,
      "geneSymbol": "MYO15A",
      "hgvs": [
        "ENST00000646782.1:n.2870C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769063"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10424,
          "referenceAllele": "C",
          "start": 10423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007594",
      "geneNCBI_id": 51168,
      "geneSymbol": "MYO15A",
      "hgvs": [
        "ENST00000647165.2:c.10136C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495481.1:p.Ser3379Ter",
        "hgvsWellDefined": "ENSP00000495481.1:p.Ser3379_Leu3530delinsThrTrpLeuAsnLeuValSerGlnHisArgGlnGlnThrGlnAlaLeuSerProHisGlnAlaArgAlaGlnPheLeuGlyLeuLeuSerAlaLeuProMetPheGlySerSerPhePhePheIleGlnSerCysSerAsnIleAlaValProAlaProCysIleLeuAlaIleAsnHisAsnGlyLeuAsnPheLeuSerThrGluThrHisGluLeuMetValLysPheProLeuLysGluIleGlnSerThrArgThrGlnArgProThrAlaAsnSerSerTyrProTyrValGluIleAlaLeuGlyAspValAlaAlaGlnArgThrLeuGlnLeuGlnLeuGluGlnGlyLeuGluLeuCysArgValValAlaValHisValGluAsnLeuLeuSerAlaHisGluLysArgLeuThrLeuProProSerGluIleThrLeuLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769270",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000647165.2:c.10136C>A"
          },
          "RefSeq": {
            "hgvs": "NM_016239.4:c.10136C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495481.1:p.Ser3379Ter"
          },
          "RefSeq": {
            "hgvs": "NP_057323.3:p.Ser3379Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2567,
          "referenceAllele": "C",
          "start": 2566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007594",
      "geneNCBI_id": 51168,
      "geneSymbol": "MYO15A",
      "hgvs": [
        "ENST00000651214.1:n.2567C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771535"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10474,
          "referenceAllele": "C",
          "start": 10473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007594",
      "geneNCBI_id": 51168,
      "geneSymbol": "MYO15A",
      "hgvs": [
        "ENST00000205890.9:c.10136C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000205890.5:p.Ser3379Ter",
        "hgvsWellDefined": "ENSP00000205890.5:p.Ser3379_Leu3530delinsThrTrpLeuAsnLeuValSerGlnHisArgGlnGlnThrGlnAlaLeuSerProHisGlnAlaArgAlaGlnPheLeuGlyLeuLeuSerAlaLeuProMetPheGlySerSerPhePhePheIleGlnSerCysSerAsnIleAlaValProAlaProCysIleLeuAlaIleAsnHisAsnGlyLeuAsnPheLeuSerThrGluThrHisGluLeuMetValLysPheProLeuLysGluIleGlnSerThrArgThrGlnArgProThrAlaAsnSerSerTyrProTyrValGluIleAlaLeuGlyAspValAlaAlaGlnArgThrLeuGlnLeuGlnLeuGluGlnGlyLeuGluLeuCysArgValValAlaValHisValGluAsnLeuLeuSerAlaHisGluLysArgLeuThrLeuProProSerGluIleThrLeuLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247823"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2550,
          "referenceAllele": "C",
          "start": 2549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007594",
      "geneNCBI_id": 51168,
      "geneSymbol": "MYO15A",
      "hgvs": [
        "ENST00000418233.7:c.1928C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408800.3:p.Ser643Ter",
        "hgvsWellDefined": "ENSP00000408800.3:p.Ser643_Pro797delinsThrTrpLeuAsnLeuValSerGlnHisArgGlnGlnThrGlnAlaLeuSerProHisGlnAlaArgAlaGlnPheLeuGlyLeuLeuSerAlaLeuProMetPheGlySerSerPhePhePheIleGlnSerCysSerAsnIleAlaValProAlaProCysIleLeuAlaIleAsnHisAsnGlyLeuAsnPheLeuSerThrGluThrHisGluLeuMetValLysPheProLeuLysGluIleGlnSerThrArgThrGlnArgProThrAlaAsnSerSerTyrProTyrValGluIleAlaLeuGlyAspValAlaAlaGlnArgThrLeuGlnLeuGlnLeuGluGlnValArgAlaGlyGluValLeuAspGlyArgGlyLeuSerLeuSerProAlaGlyThrGlyThrValSerCysGlyGlyArgAlaArgGlyGluProAlaGlnCysProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285309"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1586,
          "referenceAllele": "C",
          "start": 1585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007594",
      "geneNCBI_id": 51168,
      "geneSymbol": "MYO15A",
      "hgvs": [
        "ENST00000433411.7:n.1586C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS292527"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 905,
          "referenceAllele": "C",
          "start": 904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007594",
      "geneNCBI_id": 51168,
      "geneSymbol": "MYO15A",
      "hgvs": [
        "ENST00000445289.6:n.905C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS298215"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 678,
          "referenceAllele": "C",
          "start": 677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007594",
      "geneNCBI_id": 51168,
      "geneSymbol": "MYO15A",
      "hgvs": [
        "ENST00000578575.1:c.678C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385431"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 556,
          "referenceAllele": "C",
          "start": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007594",
      "geneNCBI_id": 51168,
      "geneSymbol": "MYO15A",
      "hgvs": [
        "ENST00000579848.6:c.556C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465910.1:p.Arg186="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS386032"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10474,
          "referenceAllele": "C",
          "start": 10473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007594",
      "geneNCBI_id": 51168,
      "geneSymbol": "MYO15A",
      "hgvs": [
        "ENST00000615845.4:c.10136C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481642.1:p.Ser3379Ter",
        "hgvsWellDefined": "ENSP00000481642.1:p.Ser3379_Leu3530delinsThrTrpLeuAsnLeuValSerGlnHisArgGlnGlnThrGlnAlaLeuSerProHisGlnAlaArgAlaGlnPheLeuGlyLeuLeuSerAlaLeuProMetPheGlySerSerPhePhePheIleGlnSerCysSerAsnIleAlaValProAlaProCysIleLeuAlaIleAsnHisAsnGlyLeuAsnPheLeuSerThrGluThrHisGluLeuMetValLysPheProLeuLysGluIleGlnSerThrArgThrGlnArgProThrAlaAsnSerSerTyrProTyrValGluIleAlaLeuGlyAspValAlaAlaGlnArgThrLeuGlnLeuGlnLeuGluGlnGlyLeuGluLeuCysArgValValAlaValHisValGluAsnLeuLeuSerAlaHisGluLysArgLeuThrLeuProProSerGluIleThrLeuLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402785"
    },
    {
      "@id": "http://reg.genome.network/allele/PA273604",
      "coordinates": [
        {
          "allele": "A",
          "end": 10474,
          "referenceAllele": "C",
          "start": 10473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007594",
      "geneNCBI_id": 51168,
      "geneSymbol": "MYO15A",
      "hgvs": [
        "NM_016239.3:c.10136C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_057323.3:p.Ser3379Ter",
        "hgvsWellDefined": "NP_057323.3:p.Ser3379_Leu3530delinsThrTrpLeuAsnLeuValSerGlnHisArgGlnGlnThrGlnAlaLeuSerProHisGlnAlaArgAlaGlnPheLeuGlyLeuLeuSerAlaLeuProMetPheGlySerSerPhePhePheIleGlnSerCysSerAsnIleAlaValProAlaProCysIleLeuAlaIleAsnHisAsnGlyLeuAsnPheLeuSerThrGluThrHisGluLeuMetValLysPheProLeuLysGluIleGlnSerThrArgThrGlnArgProThrAlaAsnSerSerTyrProTyrValGluIleAlaLeuGlyAspValAlaAlaGlnArgThrLeuGlnLeuGlnLeuGluGlnGlyLeuGluLeuCysArgValValAlaValHisValGluAsnLeuLeuSerAlaHisGluLysArgLeuThrLeuProProSerGluIleThrLeuLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034550"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10770,
          "referenceAllele": "C",
          "start": 10769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007594",
      "geneNCBI_id": 51168,
      "geneSymbol": "MYO15A",
      "hgvs": [
        "XM_011523921.1:c.10130C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522223.1:p.Ser3377Ter",
        "hgvsWellDefined": "XP_011522223.1:p.Ser3377_Leu3528delinsThrTrpLeuAsnLeuValSerGlnHisArgGlnGlnThrGlnAlaLeuSerProHisGlnAlaArgAlaGlnPheLeuGlyLeuLeuSerAlaLeuProMetPheGlySerSerPhePhePheIleGlnSerCysSerAsnIleAlaValProAlaProCysIleLeuAlaIleAsnHisAsnGlyLeuAsnPheLeuSerThrGluThrHisGluLeuMetValLysPheProLeuLysGluIleGlnSerThrArgThrGlnArgProThrAlaAsnSerSerTyrProTyrValGluIleAlaLeuGlyAspValAlaAlaGlnArgThrLeuGlnLeuGlnLeuGluGlnGlyLeuGluLeuCysArgValValAlaValHisValGluAsnLeuLeuSerAlaHisGluLysArgLeuThrLeuProProSerGluIleThrLeuLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091053"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10774,
          "referenceAllele": "C",
          "start": 10773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007594",
      "geneNCBI_id": 51168,
      "geneSymbol": "MYO15A",
      "hgvs": [
        "XM_017024714.2:c.10076C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880203.1:p.Ser3359Ter",
        "hgvsWellDefined": "XP_016880203.1:p.Ser3359_Leu3510delinsThrTrpLeuAsnLeuValSerGlnHisArgGlnGlnThrGlnAlaLeuSerProHisGlnAlaArgAlaGlnPheLeuGlyLeuLeuSerAlaLeuProMetPheGlySerSerPhePhePheIleGlnSerCysSerAsnIleAlaValProAlaProCysIleLeuAlaIleAsnHisAsnGlyLeuAsnPheLeuSerThrGluThrHisGluLeuMetValLysPheProLeuLysGluIleGlnSerThrArgThrGlnArgProThrAlaAsnSerSerTyrProTyrValGluIleAlaLeuGlyAspValAlaAlaGlnArgThrLeuGlnLeuGlnLeuGluGlnGlyLeuGluLeuCysArgValValAlaValHisValGluAsnLeuLeuSerAlaHisGluLysArgLeuThrLeuProProSerGluIleThrLeuLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575212"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10837,
          "referenceAllele": "C",
          "start": 10836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007594",
      "geneNCBI_id": 51168,
      "geneSymbol": "MYO15A",
      "hgvs": [
        "XM_017024715.2:c.10139C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880204.1:p.Ser3380Ter",
        "hgvsWellDefined": "XP_016880204.1:p.Ser3380_Leu3531delinsThrTrpLeuAsnLeuValSerGlnHisArgGlnGlnThrGlnAlaLeuSerProHisGlnAlaArgAlaGlnPheLeuGlyLeuLeuSerAlaLeuProMetPheGlySerSerPhePhePheIleGlnSerCysSerAsnIleAlaValProAlaProCysIleLeuAlaIleAsnHisAsnGlyLeuAsnPheLeuSerThrGluThrHisGluLeuMetValLysPheProLeuLysGluIleGlnSerThrArgThrGlnArgProThrAlaAsnSerSerTyrProTyrValGluIleAlaLeuGlyAspValAlaAlaGlnArgThrLeuGlnLeuGlnLeuGluGlnGlyLeuGluLeuCysArgValValAlaValHisValGluAsnLeuLeuSerAlaHisGluLysArgLeuThrLeuProProSerGluIleThrLeuLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575213"
    },
    {
      "@id": "http://reg.genome.network/allele/PA273604",
      "coordinates": [
        {
          "allele": "A",
          "end": 10424,
          "referenceAllele": "C",
          "start": 10423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007594",
      "geneNCBI_id": 51168,
      "geneSymbol": "MYO15A",
      "hgvs": [
        "NM_016239.4:c.10136C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_057323.3:p.Ser3379Ter",
        "hgvsWellDefined": "NP_057323.3:p.Ser3379_Leu3530delinsThrTrpLeuAsnLeuValSerGlnHisArgGlnGlnThrGlnAlaLeuSerProHisGlnAlaArgAlaGlnPheLeuGlyLeuLeuSerAlaLeuProMetPheGlySerSerPhePhePheIleGlnSerCysSerAsnIleAlaValProAlaProCysIleLeuAlaIleAsnHisAsnGlyLeuAsnPheLeuSerThrGluThrHisGluLeuMetValLysPheProLeuLysGluIleGlnSerThrArgThrGlnArgProThrAlaAsnSerSerTyrProTyrValGluIleAlaLeuGlyAspValAlaAlaGlnArgThrLeuGlnLeuGlnLeuGluGlnGlyLeuGluLeuCysArgValValAlaValHisValGluAsnLeuLeuSerAlaHisGluLysArgLeuThrLeuProProSerGluIleThrLeuLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669046",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000647165.2:c.10136C>A"
          },
          "RefSeq": {
            "hgvs": "NM_016239.4:c.10136C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495481.1:p.Ser3379Ter"
          },
          "RefSeq": {
            "hgvs": "NP_057323.3:p.Ser3379Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}