{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA10377802", "communityStandardTitle": [ "NM_004006.3(DMD):c.9479G>A (p.Arg3160His)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=268949[alleleid]", "alleleId": 268949, "preferredName": "NM_004006.3(DMD):c.9479G>A (p.Arg3160His)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/284712", "RCV": [ "RCV000263365", "RCV000463720", "RCV000725517", "RCV001165643", "RCV001833336", "RCV002374462", "RCV004535328" ], "variationId": 284712 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/X-31227699-C-T", "id": "X-31227699-C-T", "variant": "X:31227699 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.31227699C>T?assembly=hg19", "id": "chrX:g.31227699C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.31209582C>T?assembly=hg38", "id": "chrX:g.31209582C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/771392678", "rs": 771392678 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/X-31227699-C-T?dataset=gnomad_r2_1", "id": "X-31227699-C-T", "variant": "X:31227699 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/X-31209582-C-T?dataset=gnomad_r3", "id": "X-31209582-C-T", "variant": "X:31209582 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/X-31209582-C-T?dataset=gnomad_r4", "id": "X-31209582-C-T", "variant": "X:31209582 C / T" } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 31209582, "referenceAllele": "C", "start": 31209581 } ], "hgvs": [ "NC_000023.11:g.31209582C>T", "CM000685.2:g.31209582C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 31227699, "referenceAllele": "C", "start": 31227698 } ], "hgvs": [ "NC_000023.10:g.31227699C>T", "CM000685.1:g.31227699C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 31137620, "referenceAllele": "C", "start": 31137619 } ], "hgvs": [ "NC_000023.9:g.31137620C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "A", "end": 2135028, "referenceAllele": "G", "start": 2135027 } ], "hgvs": [ "NG_012232.1:g.2135028G>A", "LRG_199:g.2135028G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002304" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 4325, "referenceAllele": "G", "start": 4324 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000358062.7:c.4325G>A" ], "proteinEffect": { "hgvs": "ENSP00000350765.3:p.Arg1442His", "hgvsWellDefined": "ENSP00000350765.3:p.Arg1442His" }, "referenceSequence": "http://reg.genome.network/refseq/RS904459" }, { "coordinates": [ { "allele": "A", "end": 413, "referenceAllele": "G", "start": 412 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000680162.2:c.275G>A" ], "proteinEffect": { "hgvs": "ENSP00000506634.2:p.Arg92His", "hgvsWellDefined": "ENSP00000506634.2:p.Arg92His" }, "referenceSequence": "http://reg.genome.network/refseq/RS826946" }, { "coordinates": [ { "allele": "A", "end": 398, "referenceAllele": "G", "start": 397 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000680768.2:c.275G>A" ], "proteinEffect": { "hgvs": "ENSP00000506359.2:p.Arg92His", "hgvsWellDefined": "ENSP00000506359.2:p.Arg92His" }, "referenceSequence": "http://reg.genome.network/refseq/RS826950" }, { "coordinates": [ { "allele": "A", "end": 277, "referenceAllele": "G", "start": 276 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000681989.1:n.277G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS826989" }, { "coordinates": [ { "allele": "A", "end": 3140, "referenceAllele": "G", "start": 3139 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000682238.1:c.2099G>A" ], "proteinEffect": { "hgvs": "ENSP00000508124.1:p.Arg700His", "hgvsWellDefined": "ENSP00000508124.1:p.Arg700His" }, "referenceSequence": "http://reg.genome.network/refseq/RS827233" }, { "coordinates": [ { "allele": "A", "end": 413, "referenceAllele": "G", "start": 412 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000682322.1:c.275G>A" ], "proteinEffect": { "hgvs": "ENSP00000507690.1:p.Arg92His", "hgvsWellDefined": "ENSP00000507690.1:p.Arg92His" }, "referenceSequence": "http://reg.genome.network/refseq/RS827314" }, { "coordinates": [ { "allele": "A", "end": 413, "referenceAllele": "G", "start": 412 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000682600.1:c.275G>A" ], "proteinEffect": { "hgvs": "ENSP00000507640.1:p.Arg92His", "hgvsWellDefined": "ENSP00000507640.1:p.Arg92His" }, "referenceSequence": "http://reg.genome.network/refseq/RS827590" }, { "coordinates": [ { "allele": "A", "end": 277, "referenceAllele": "G", "start": 276 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000682769.1:n.277G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827758" }, { "coordinates": [ { "allele": "A", "end": 996, "referenceAllele": "G", "start": 995 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000683509.1:n.996G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828483" }, { "coordinates": [ { "allele": "A", "end": 578, "referenceAllele": "G", "start": 577 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000683675.1:n.578G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828646" }, { "coordinates": [ { "allele": "A", "end": 997, "referenceAllele": "G", "start": 996 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000683709.1:n.997G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828680" }, { "coordinates": [ { "allele": "A", "end": 2971, "referenceAllele": "G", "start": 2970 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000683957.1:n.2971G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828920" }, { "coordinates": [ { "allele": "A", "end": 3140, "referenceAllele": "G", "start": 3139 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000684130.1:c.2099G>A" ], "proteinEffect": { "hgvs": "ENSP00000508037.1:p.Arg700His", "hgvsWellDefined": "ENSP00000508037.1:p.Arg700His" }, "referenceSequence": "http://reg.genome.network/refseq/RS829088" }, { "coordinates": [ { "allele": "A", "end": 1536, "referenceAllele": "G", "start": 1535 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000343523.7:c.1334G>A" ], "proteinEffect": { "hgvs": "ENSP00000340057.4:p.Arg445His", "hgvsWellDefined": "ENSP00000340057.4:p.Arg445His" }, "referenceSequence": "http://reg.genome.network/refseq/RS748148" }, { "coordinates": [ { "allele": "A", "end": 9716, "referenceAllele": "G", "start": 9715 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000357033.9:c.9479G>A" ], "proteinEffect": { "hgvs": "ENSP00000354923.3:p.Arg3160His", "hgvsWellDefined": "ENSP00000354923.3:p.Arg3160His" }, "referenceSequence": "http://reg.genome.network/refseq/RS748881", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357033.9:c.9479G>A" }, "RefSeq": { "hgvs": "NM_004006.3:c.9479G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000354923.3:p.Arg3160His" }, "RefSeq": { "hgvs": "NP_003997.2:p.Arg3160His" } } } }, { "coordinates": [ { "allele": "A", "end": 5627, "referenceAllele": "G", "start": 5626 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000619831.5:c.5447G>A" ], "proteinEffect": { "hgvs": "ENSP00000479270.2:p.Arg1816His", "hgvsWellDefined": "ENSP00000479270.2:p.Arg1816His" }, "referenceSequence": "http://reg.genome.network/refseq/RS762247" }, { "coordinates": [ { "allele": "A", "end": 3140, "referenceAllele": "G", "start": 3139 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000620040.5:c.2099G>A" ], "proteinEffect": { "hgvs": "ENSP00000478150.2:p.Arg700His", "hgvsWellDefined": "ENSP00000478150.2:p.Arg700His" }, "referenceSequence": "http://reg.genome.network/refseq/RS762258" }, { "coordinates": [ { "allele": "A", "end": 409, "referenceAllele": "G", "start": 408 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000679641.1:c.275G>A" ], "proteinEffect": { "hgvs": "ENSP00000506135.1:p.Arg92His", "hgvsWellDefined": "ENSP00000506135.1:p.Arg92His" }, "referenceSequence": "http://reg.genome.network/refseq/RS779269" }, { "coordinates": [ { "allele": "A", "end": 277, "referenceAllele": "G", "start": 276 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000680162.1:c.152G>A" ], "proteinEffect": { "hgvs": "ENSP00000506634.1:p.Arg51His", "hgvsWellDefined": "ENSP00000506634.1:p.Arg51His" }, "referenceSequence": "http://reg.genome.network/refseq/RS779782" }, { "coordinates": [ { "allele": "A", "end": 413, "referenceAllele": "G", "start": 412 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000680355.1:c.275G>A" ], "proteinEffect": { "hgvs": "ENSP00000506257.1:p.Arg92His", "hgvsWellDefined": "ENSP00000506257.1:p.Arg92His" }, "referenceSequence": "http://reg.genome.network/refseq/RS779973" }, { "coordinates": [ { "allele": "A", "end": 394, "referenceAllele": "G", "start": 393 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000680557.1:c.275G>A" ], "proteinEffect": { "hgvs": "ENSP00000505164.1:p.Arg92His", "hgvsWellDefined": "ENSP00000505164.1:p.Arg92His" }, "referenceSequence": "http://reg.genome.network/refseq/RS780172" }, { "coordinates": [ { "allele": "A", "end": 996, "referenceAllele": "G", "start": 995 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000680768.1:c.218G>A" ], "proteinEffect": { "hgvs": "ENSP00000506359.1:p.Arg73His", "hgvsWellDefined": "ENSP00000506359.1:p.Arg73His" }, "referenceSequence": "http://reg.genome.network/refseq/RS780383" }, { "coordinates": [ { "allele": "A", "end": 3140, "referenceAllele": "G", "start": 3139 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000680961.1:c.2099G>A" ], "proteinEffect": { "hgvs": "ENSP00000506386.1:p.Arg700His", "hgvsWellDefined": "ENSP00000506386.1:p.Arg700His" }, "referenceSequence": "http://reg.genome.network/refseq/RS780575" }, { "coordinates": [ { "allele": "A", "end": 413, "referenceAllele": "G", "start": 412 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000681153.1:c.275G>A" ], "proteinEffect": { "hgvs": "ENSP00000505124.1:p.Arg92His", "hgvsWellDefined": "ENSP00000505124.1:p.Arg92His" }, "referenceSequence": "http://reg.genome.network/refseq/RS780765" }, { "coordinates": [ { "allele": "A", "end": 417, "referenceAllele": "G", "start": 416 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000681334.1:c.275G>A" ], "proteinEffect": { "hgvs": "ENSP00000506066.1:p.Arg92His", "hgvsWellDefined": "ENSP00000506066.1:p.Arg92His" }, "referenceSequence": "http://reg.genome.network/refseq/RS780944" }, { "coordinates": [ { "allele": "A", "end": 409, "referenceAllele": "G", "start": 408 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000681654.1:n.409G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS781260" }, { "coordinates": [ { "allele": "A", "end": 1353, "referenceAllele": "G", "start": 1352 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000343523.6:c.1292G>A" ], "proteinEffect": { "hgvs": "ENSP00000340057.3:p.Arg431His", "hgvsWellDefined": "ENSP00000340057.3:p.Arg431His" }, "referenceSequence": "http://reg.genome.network/refseq/RS261779" }, { "coordinates": [ { "allele": "A", "end": 9686, "referenceAllele": "G", "start": 9685 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000357033.8:c.9479G>A" ], "proteinEffect": { "hgvs": "ENSP00000354923.3:p.Arg3160His", "hgvsWellDefined": "ENSP00000354923.3:p.Arg3160His" }, "referenceSequence": "http://reg.genome.network/refseq/RS263955" }, { "coordinates": [ { "allele": "A", "end": 2567, "referenceAllele": "G", "start": 2566 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000358062.6:c.2567G>A" ], "proteinEffect": { "hgvs": "ENSP00000350765.2:p.Arg856His", "hgvsWellDefined": "ENSP00000350765.2:p.Arg856His" }, "referenceSequence": "http://reg.genome.network/refseq/RS264318" }, { "coordinates": [ { "allele": "A", "end": 3140, "referenceAllele": "G", "start": 3139 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000359836.5:c.2099G>A" ], "proteinEffect": { "hgvs": "ENSP00000352894.1:p.Arg700His", "hgvsWellDefined": "ENSP00000352894.1:p.Arg700His" }, "referenceSequence": "http://reg.genome.network/refseq/RS264919" }, { "coordinates": [ { "allele": "A", "end": 353, "referenceAllele": "G", "start": 352 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000361471.8:c.275G>A" ], "proteinEffect": { "hgvs": "ENSP00000354464.4:p.Arg92His", "hgvsWellDefined": "ENSP00000354464.4:p.Arg92His" }, "referenceSequence": "http://reg.genome.network/refseq/RS265493" }, { "coordinates": [ { "allele": "A", "end": 9662, "referenceAllele": "G", "start": 9661 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000378677.6:c.9467G>A" ], "proteinEffect": { "hgvs": "ENSP00000367948.2:p.Arg3156His", "hgvsWellDefined": "ENSP00000367948.2:p.Arg3156His" }, "referenceSequence": "http://reg.genome.network/refseq/RS272146" }, { "coordinates": [ { "allele": "A", "end": 395, "referenceAllele": "G", "start": 394 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000378680.6:c.275G>A" ], "proteinEffect": { "hgvs": "ENSP00000367951.2:p.Arg92His", "hgvsWellDefined": "ENSP00000367951.2:p.Arg92His" }, "referenceSequence": "http://reg.genome.network/refseq/RS272148" }, { "coordinates": [ { "allele": "A", "end": 303, "referenceAllele": "G", "start": 302 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000378702.8:c.275G>A" ], "proteinEffect": { "hgvs": "ENSP00000367974.4:p.Arg92His", "hgvsWellDefined": "ENSP00000367974.4:p.Arg92His" }, "referenceSequence": "http://reg.genome.network/refseq/RS272160" }, { "coordinates": [ { "allele": "A", "end": 3140, "referenceAllele": "G", "start": 3139 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000378707.7:c.2099G>A" ], "proteinEffect": { "hgvs": "ENSP00000367979.3:p.Arg700His", "hgvsWellDefined": "ENSP00000367979.3:p.Arg700His" }, "referenceSequence": "http://reg.genome.network/refseq/RS272163" }, { "coordinates": [ { "allele": "A", "end": 398, "referenceAllele": "G", "start": 397 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000378723.7:c.275G>A" ], "proteinEffect": { "hgvs": "ENSP00000367997.3:p.Arg92His", "hgvsWellDefined": "ENSP00000367997.3:p.Arg92His" }, "referenceSequence": "http://reg.genome.network/refseq/RS272172" }, { "coordinates": [ { "allele": "A", "end": 498, "referenceAllele": "G", "start": 497 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000469142.1:n.498G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS311899" }, { "coordinates": [ { "allele": "A", "end": 3140, "referenceAllele": "G", "start": 3139 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000474231.5:c.2099G>A" ], "proteinEffect": { "hgvs": "ENSP00000417123.1:p.Arg700His", "hgvsWellDefined": "ENSP00000417123.1:p.Arg700His" }, "referenceSequence": "http://reg.genome.network/refseq/RS315787" }, { "coordinates": [ { "allele": "A", "end": 3140, "referenceAllele": "G", "start": 3139 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000541735.5:c.2099G>A" ], "proteinEffect": { "hgvs": "ENSP00000444119.1:p.Arg700His", "hgvsWellDefined": "ENSP00000444119.1:p.Arg700His" }, "referenceSequence": "http://reg.genome.network/refseq/RS363087" }, { "coordinates": [ { "allele": "A", "end": 9464, "referenceAllele": "G", "start": 9463 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000619831.4:c.9464G>A" ], "proteinEffect": { "hgvs": "ENSP00000479270.1:p.Arg3155His", "hgvsWellDefined": "ENSP00000479270.1:p.Arg3155His" }, "referenceSequence": "http://reg.genome.network/refseq/RS404545" }, { "coordinates": [ { "allele": "A", "end": 9476, "referenceAllele": "G", "start": 9475 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000620040.4:c.9476G>A" ], "proteinEffect": { "hgvs": "ENSP00000478150.1:p.Arg3159His", "hgvsWellDefined": "ENSP00000478150.1:p.Arg3159His" }, "referenceSequence": "http://reg.genome.network/refseq/RS404642" }, { "coordinates": [ { "allele": "A", "end": 9799, "referenceAllele": "G", "start": 9798 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_000109.3:c.9455G>A" ], "proteinEffect": { "hgvs": "NP_000100.2:p.Arg3152His", "hgvsWellDefined": "NP_000100.2:p.Arg3152His" }, "referenceSequence": "http://reg.genome.network/refseq/RS006172" }, { "@id": "http://reg.genome.network/allele/PA645483996", "coordinates": [ { "allele": "A", "end": 9723, "referenceAllele": "G", "start": 9722 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004006.2:c.9479G>A", "LRG_199t1:c.9479G>A" ], "proteinEffect": { "hgvs": "NP_003997.1:p.Arg3160His", "hgvsWellDefined": "NP_003997.1:p.Arg3160His" }, "referenceSequence": "http://reg.genome.network/refseq/RS029203" }, { "@id": "http://reg.genome.network/allele/PA2829493829", "coordinates": [ { "allele": "A", "end": 9730, "referenceAllele": "G", "start": 9729 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004009.3:c.9467G>A" ], "proteinEffect": { "hgvs": "NP_004000.1:p.Arg3156His", "hgvsWellDefined": "NP_004000.1:p.Arg3156His" }, "referenceSequence": "http://reg.genome.network/refseq/RS029204" }, { "@id": "http://reg.genome.network/allele/PA2829498956", "coordinates": [ { "allele": "A", "end": 9813, "referenceAllele": "G", "start": 9812 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004010.3:c.9110G>A" ], "proteinEffect": { "hgvs": "NP_004001.1:p.Arg3037His", "hgvsWellDefined": "NP_004001.1:p.Arg3037His" }, "referenceSequence": "http://reg.genome.network/refseq/RS029205" }, { "coordinates": [ { "allele": "A", "end": 5501, "referenceAllele": "G", "start": 5500 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004011.3:c.5456G>A" ], "proteinEffect": { "hgvs": "NP_004002.2:p.Arg1819His", "hgvsWellDefined": "NP_004002.2:p.Arg1819His" }, "referenceSequence": "http://reg.genome.network/refseq/RS029206" }, { "coordinates": [ { "allele": "A", "end": 5644, "referenceAllele": "G", "start": 5643 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004012.3:c.5447G>A" ], "proteinEffect": { "hgvs": "NP_004003.1:p.Arg1816His", "hgvsWellDefined": "NP_004003.1:p.Arg1816His" }, "referenceSequence": "http://reg.genome.network/refseq/RS029207" }, { "coordinates": [ { "allele": "A", "end": 3140, "referenceAllele": "G", "start": 3139 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004013.2:c.2099G>A" ], "proteinEffect": { "hgvs": "NP_004004.1:p.Arg700His", "hgvsWellDefined": "NP_004004.1:p.Arg700His" }, "referenceSequence": "http://reg.genome.network/refseq/RS029208" }, { "coordinates": [ { "allele": "A", "end": 1353, "referenceAllele": "G", "start": 1352 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004014.2:c.1292G>A" ], "proteinEffect": { "hgvs": "NP_004005.1:p.Arg431His", "hgvsWellDefined": "NP_004005.1:p.Arg431His" }, "referenceSequence": "http://reg.genome.network/refseq/RS029209" }, { "@id": "http://reg.genome.network/allele/PA2829505816", "coordinates": [ { "allele": "A", "end": 353, "referenceAllele": "G", "start": 352 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004015.2:c.275G>A" ], "proteinEffect": { "hgvs": "NP_004006.1:p.Arg92His", "hgvsWellDefined": "NP_004006.1:p.Arg92His" }, "referenceSequence": "http://reg.genome.network/refseq/RS029210" }, { "@id": "http://reg.genome.network/allele/PA2829506354", "coordinates": [ { "allele": "A", "end": 353, "referenceAllele": "G", "start": 352 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004016.2:c.275G>A" ], "proteinEffect": { "hgvs": "NP_004007.1:p.Arg92His", "hgvsWellDefined": "NP_004007.1:p.Arg92His" }, "referenceSequence": "http://reg.genome.network/refseq/RS029211" }, { "@id": "http://reg.genome.network/allele/PA2829506888", "coordinates": [ { "allele": "A", "end": 353, "referenceAllele": "G", "start": 352 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004017.2:c.275G>A" ], "proteinEffect": { "hgvs": "NP_004008.1:p.Arg92His", "hgvsWellDefined": "NP_004008.1:p.Arg92His" }, "referenceSequence": "http://reg.genome.network/refseq/RS029212" }, { "@id": "http://reg.genome.network/allele/PA2829507403", "coordinates": [ { "allele": "A", "end": 353, "referenceAllele": "G", "start": 352 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004018.2:c.275G>A" ], "proteinEffect": { "hgvs": "NP_004009.1:p.Arg92His", "hgvsWellDefined": "NP_004009.1:p.Arg92His" }, "referenceSequence": "http://reg.genome.network/refseq/RS029213" }, { "@id": "http://reg.genome.network/allele/PA916002403", "coordinates": [ { "allele": "A", "end": 353, "referenceAllele": "G", "start": 352 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004019.2:c.275G>A" ], "proteinEffect": { "hgvs": "NP_004010.1:p.Arg92His", "hgvsWellDefined": "NP_004010.1:p.Arg92His" }, "referenceSequence": "http://reg.genome.network/refseq/RS029214" }, { "coordinates": [ { "allele": "A", "end": 3140, "referenceAllele": "G", "start": 3139 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004020.3:c.2099G>A" ], "proteinEffect": { "hgvs": "NP_004011.2:p.Arg700His", "hgvsWellDefined": "NP_004011.2:p.Arg700His" }, "referenceSequence": "http://reg.genome.network/refseq/RS029215" }, { "coordinates": [ { "allele": "A", "end": 3140, "referenceAllele": "G", "start": 3139 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004021.2:c.2099G>A" ], "proteinEffect": { "hgvs": "NP_004012.1:p.Arg700His", "hgvsWellDefined": "NP_004012.1:p.Arg700His" }, "referenceSequence": "http://reg.genome.network/refseq/RS029216" }, { "coordinates": [ { "allele": "A", "end": 3140, "referenceAllele": "G", "start": 3139 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004022.2:c.2099G>A" ], "proteinEffect": { "hgvs": "NP_004013.1:p.Arg700His", "hgvsWellDefined": "NP_004013.1:p.Arg700His" }, "referenceSequence": "http://reg.genome.network/refseq/RS029217" }, { "coordinates": [ { "allele": "A", "end": 3140, "referenceAllele": "G", "start": 3139 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004023.2:c.2099G>A" ], "proteinEffect": { "hgvs": "NP_004014.1:p.Arg700His", "hgvsWellDefined": "NP_004014.1:p.Arg700His" }, "referenceSequence": "http://reg.genome.network/refseq/RS029218" }, { "coordinates": [ { "allele": "A", "end": 9676, "referenceAllele": "G", "start": 9675 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724468.2:c.9479G>A" ], "proteinEffect": { "hgvs": "XP_006724531.1:p.Arg3160His", "hgvsWellDefined": "XP_006724531.1:p.Arg3160His" }, "referenceSequence": "http://reg.genome.network/refseq/RS075527" }, { "coordinates": [ { "allele": "A", "end": 9558, "referenceAllele": "G", "start": 9557 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724469.2:c.9455G>A" ], "proteinEffect": { "hgvs": "XP_006724532.1:p.Arg3152His", "hgvsWellDefined": "XP_006724532.1:p.Arg3152His" }, "referenceSequence": "http://reg.genome.network/refseq/RS075528" }, { "coordinates": [ { "allele": "A", "end": 9676, "referenceAllele": "G", "start": 9675 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724470.2:c.9479G>A" ], "proteinEffect": { "hgvs": "XP_006724533.1:p.Arg3160His", "hgvsWellDefined": "XP_006724533.1:p.Arg3160His" }, "referenceSequence": "http://reg.genome.network/refseq/RS075529" }, { "coordinates": [ { "allele": "A", "end": 9676, "referenceAllele": "G", "start": 9675 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724471.2:c.9479G>A" ], "proteinEffect": { "hgvs": "XP_006724534.1:p.Arg3160His", "hgvsWellDefined": "XP_006724534.1:p.Arg3160His" }, "referenceSequence": "http://reg.genome.network/refseq/RS075530" }, { "coordinates": [ { "allele": "A", "end": 9547, "referenceAllele": "G", "start": 9546 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724472.2:c.9350G>A" ], "proteinEffect": { "hgvs": "XP_006724535.1:p.Arg3117His", "hgvsWellDefined": "XP_006724535.1:p.Arg3117His" }, "referenceSequence": "http://reg.genome.network/refseq/RS075531" }, { "coordinates": [ { "allele": "A", "end": 9538, "referenceAllele": "G", "start": 9537 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724473.2:c.9341G>A" ], "proteinEffect": { "hgvs": "XP_006724536.1:p.Arg3114His", "hgvsWellDefined": "XP_006724536.1:p.Arg3114His" }, "referenceSequence": "http://reg.genome.network/refseq/RS075532" }, { "coordinates": [ { "allele": "A", "end": 9676, "referenceAllele": "G", "start": 9675 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724474.2:c.9479G>A" ], "proteinEffect": { "hgvs": "XP_006724537.1:p.Arg3160His", "hgvsWellDefined": "XP_006724537.1:p.Arg3160His" }, "referenceSequence": "http://reg.genome.network/refseq/RS075533" }, { "coordinates": [ { "allele": "A", "end": 9676, "referenceAllele": "G", "start": 9675 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724475.2:c.9479G>A" ], "proteinEffect": { "hgvs": "XP_006724538.1:p.Arg3160His", "hgvsWellDefined": "XP_006724538.1:p.Arg3160His" }, "referenceSequence": "http://reg.genome.network/refseq/RS075534" }, { "coordinates": [ { "allele": "A", "end": 9553, "referenceAllele": "G", "start": 9552 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_011545467.1:c.9356G>A" ], "proteinEffect": { "hgvs": "XP_011543769.1:p.Arg3119His", "hgvsWellDefined": "XP_011543769.1:p.Arg3119His" }, "referenceSequence": "http://reg.genome.network/refseq/RS112367" }, { "coordinates": [ { "allele": "A", "end": 9676, "referenceAllele": "G", "start": 9675 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_011545468.1:c.9479G>A" ], "proteinEffect": { "hgvs": "XP_011543770.1:p.Arg3160His", "hgvsWellDefined": "XP_011543770.1:p.Arg3160His" }, "referenceSequence": "http://reg.genome.network/refseq/RS112368" }, { "coordinates": [ { "allele": "A", "end": 9650, "referenceAllele": "G", "start": 9649 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724469.3:c.9455G>A" ], "proteinEffect": { "hgvs": "XP_006724532.1:p.Arg3152His", "hgvsWellDefined": "XP_006724532.1:p.Arg3152His" }, "referenceSequence": "http://reg.genome.network/refseq/RS540982" }, { "coordinates": [ { "allele": "A", "end": 9676, "referenceAllele": "G", "start": 9675 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724470.3:c.9479G>A" ], "proteinEffect": { "hgvs": "XP_006724533.1:p.Arg3160His", "hgvsWellDefined": "XP_006724533.1:p.Arg3160His" }, "referenceSequence": "http://reg.genome.network/refseq/RS540983" }, { "coordinates": [ { "allele": "A", "end": 9676, "referenceAllele": "G", "start": 9675 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724474.3:c.9479G>A" ], "proteinEffect": { "hgvs": "XP_006724537.1:p.Arg3160His", "hgvsWellDefined": "XP_006724537.1:p.Arg3160His" }, "referenceSequence": "http://reg.genome.network/refseq/RS540984" }, { "coordinates": [ { "allele": "A", "end": 9676, "referenceAllele": "G", "start": 9675 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_011545468.2:c.9479G>A" ], "proteinEffect": { "hgvs": "XP_011543770.1:p.Arg3160His", "hgvsWellDefined": "XP_011543770.1:p.Arg3160His" }, "referenceSequence": "http://reg.genome.network/refseq/RS556096" }, { "coordinates": [ { "allele": "A", "end": 9676, "referenceAllele": "G", "start": 9675 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_017029328.1:c.9479G>A" ], "proteinEffect": { "hgvs": "XP_016884817.1:p.Arg3160His", "hgvsWellDefined": "XP_016884817.1:p.Arg3160His" }, "referenceSequence": "http://reg.genome.network/refseq/RS578892" }, { "coordinates": [ { "allele": "A", "end": 4252, "referenceAllele": "G", "start": 4251 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_017029331.1:c.3653G>A" ], "proteinEffect": { "hgvs": "XP_016884820.1:p.Arg1218His", "hgvsWellDefined": "XP_016884820.1:p.Arg1218His" }, "referenceSequence": "http://reg.genome.network/refseq/RS578895" }, { "@id": "http://reg.genome.network/allele/PA2825074707", "coordinates": [ { "allele": "A", "end": 9578, "referenceAllele": "G", "start": 9577 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_000109.4:c.9455G>A" ], "proteinEffect": { "hgvs": "NP_000100.3:p.Arg3152His", "hgvsWellDefined": "NP_000100.3:p.Arg3152His" }, "referenceSequence": "http://reg.genome.network/refseq/RS674704" }, { "@id": "http://reg.genome.network/allele/PA2829487374", "coordinates": [ { "allele": "A", "end": 9716, "referenceAllele": "G", "start": 9715 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004006.3:c.9479G>A" ], "proteinEffect": { "hgvs": "NP_003997.2:p.Arg3160His", "hgvsWellDefined": "NP_003997.2:p.Arg3160His" }, "referenceSequence": "http://reg.genome.network/refseq/RS696014", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357033.9:c.9479G>A" }, "RefSeq": { "hgvs": "NM_004006.3:c.9479G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000354923.3:p.Arg3160His" }, "RefSeq": { "hgvs": "NP_003997.2:p.Arg3160His" } } } }, { "@id": "http://reg.genome.network/allele/PA2829500699", "coordinates": [ { "allele": "A", "end": 5475, "referenceAllele": "G", "start": 5474 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004011.4:c.5456G>A" ], "proteinEffect": { "hgvs": "NP_004002.3:p.Arg1819His", "hgvsWellDefined": "NP_004002.3:p.Arg1819His" }, "referenceSequence": "http://reg.genome.network/refseq/RS696015" }, { "@id": "http://reg.genome.network/allele/PA2829503289", "coordinates": [ { "allele": "A", "end": 5618, "referenceAllele": "G", "start": 5617 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004012.4:c.5447G>A" ], "proteinEffect": { "hgvs": "NP_004003.2:p.Arg1816His", "hgvsWellDefined": "NP_004003.2:p.Arg1816His" }, "referenceSequence": "http://reg.genome.network/refseq/RS696016" }, { "@id": "http://reg.genome.network/allele/PA2829505816", "coordinates": [ { "allele": "A", "end": 400, "referenceAllele": "G", "start": 399 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004015.3:c.275G>A" ], "proteinEffect": { "hgvs": "NP_004006.1:p.Arg92His", "hgvsWellDefined": "NP_004006.1:p.Arg92His" }, "referenceSequence": "http://reg.genome.network/refseq/RS696017" }, { "@id": "http://reg.genome.network/allele/PA2829506354", "coordinates": [ { "allele": "A", "end": 400, "referenceAllele": "G", "start": 399 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004016.3:c.275G>A" ], "proteinEffect": { "hgvs": "NP_004007.1:p.Arg92His", "hgvsWellDefined": "NP_004007.1:p.Arg92His" }, "referenceSequence": "http://reg.genome.network/refseq/RS696018" }, { "@id": "http://reg.genome.network/allele/PA2829506888", "coordinates": [ { "allele": "A", "end": 400, "referenceAllele": "G", "start": 399 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004017.3:c.275G>A" ], "proteinEffect": { "hgvs": "NP_004008.1:p.Arg92His", "hgvsWellDefined": "NP_004008.1:p.Arg92His" }, "referenceSequence": "http://reg.genome.network/refseq/RS696019" }, { "@id": "http://reg.genome.network/allele/PA2829507403", "coordinates": [ { "allele": "A", "end": 400, "referenceAllele": "G", "start": 399 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004018.3:c.275G>A" ], "proteinEffect": { "hgvs": "NP_004009.1:p.Arg92His", "hgvsWellDefined": "NP_004009.1:p.Arg92His" }, "referenceSequence": "http://reg.genome.network/refseq/RS696020" }, { "@id": "http://reg.genome.network/allele/PA916002403", "coordinates": [ { "allele": "A", "end": 400, "referenceAllele": "G", "start": 399 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004019.3:c.275G>A" ], "proteinEffect": { "hgvs": "NP_004010.1:p.Arg92His", "hgvsWellDefined": "NP_004010.1:p.Arg92His" }, "referenceSequence": "http://reg.genome.network/refseq/RS696021" }, { "@id": "http://reg.genome.network/allele/PA2829510005", "coordinates": [ { "allele": "A", "end": 3140, "referenceAllele": "G", "start": 3139 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004021.3:c.2099G>A" ], "proteinEffect": { "hgvs": "NP_004012.2:p.Arg700His", "hgvsWellDefined": "NP_004012.2:p.Arg700His" }, "referenceSequence": "http://reg.genome.network/refseq/RS696022" }, { "@id": "http://reg.genome.network/allele/PA2829512072", "coordinates": [ { "allele": "A", "end": 3140, "referenceAllele": "G", "start": 3139 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004023.3:c.2099G>A" ], "proteinEffect": { "hgvs": "NP_004014.2:p.Arg700His", "hgvsWellDefined": "NP_004014.2:p.Arg700His" }, "referenceSequence": "http://reg.genome.network/refseq/RS696023" }, { "@id": "http://reg.genome.network/allele/PA2829504500", "coordinates": [ { "allele": "A", "end": 3140, "referenceAllele": "G", "start": 3139 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004013.3:c.2099G>A" ], "proteinEffect": { "hgvs": "NP_004004.2:p.Arg700His", "hgvsWellDefined": "NP_004004.2:p.Arg700His" }, "referenceSequence": "http://reg.genome.network/refseq/RS727462" }, { "@id": "http://reg.genome.network/allele/PA2829505361", "coordinates": [ { "allele": "A", "end": 1351, "referenceAllele": "G", "start": 1350 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004014.3:c.1292G>A" ], "proteinEffect": { "hgvs": "NP_004005.2:p.Arg431His", "hgvsWellDefined": "NP_004005.2:p.Arg431His" }, "referenceSequence": "http://reg.genome.network/refseq/RS727463" }, { "@id": "http://reg.genome.network/allele/PA2829508875", "coordinates": [ { "allele": "A", "end": 3140, "referenceAllele": "G", "start": 3139 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004020.4:c.2099G>A" ], "proteinEffect": { "hgvs": "NP_004011.3:p.Arg700His", "hgvsWellDefined": "NP_004011.3:p.Arg700His" }, "referenceSequence": "http://reg.genome.network/refseq/RS727464" }, { "@id": "http://reg.genome.network/allele/PA2829511186", "coordinates": [ { "allele": "A", "end": 3140, "referenceAllele": "G", "start": 3139 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004022.3:c.2099G>A" ], "proteinEffect": { "hgvs": "NP_004013.2:p.Arg700His", "hgvsWellDefined": "NP_004013.2:p.Arg700His" }, "referenceSequence": "http://reg.genome.network/refseq/RS727465" } ], "type": "nucleotide" }