{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA10378273", "communityStandardTitle": [ "NM_004006.3(DMD):c.7450G>A (p.Asp2484Asn)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=575391[alleleid]", "alleleId": 575391, "preferredName": "NM_004006.3(DMD):c.7450G>A (p.Asp2484Asn)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/566951", "RCV": [ "RCV000686901", "RCV001829895", "RCV003144488" ], "variationId": 566951 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/X-31792169-C-T", "id": "X-31792169-C-T", "variant": "X:31792169 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.31792169C>T?assembly=hg19", "id": "chrX:g.31792169C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.31774052C>T?assembly=hg38", "id": "chrX:g.31774052C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/773102625", "rs": 773102625 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/X-31792169-C-T?dataset=gnomad_r2_1", "id": "X-31792169-C-T", "variant": "X:31792169 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/X-31774052-C-T?dataset=gnomad_r3", "id": "X-31774052-C-T", "variant": "X:31774052 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/X-31774052-C-T?dataset=gnomad_r4", "id": "X-31774052-C-T", "variant": "X:31774052 C / T" } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 31774052, "referenceAllele": "C", "start": 31774051 } ], "hgvs": [ "NC_000023.11:g.31774052C>T", "CM000685.2:g.31774052C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 31792169, "referenceAllele": "C", "start": 31792168 } ], "hgvs": [ "NC_000023.10:g.31792169C>T", "CM000685.1:g.31792169C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 31702090, "referenceAllele": "C", "start": 31702089 } ], "hgvs": [ "NC_000023.9:g.31702090C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "A", "end": 1570558, "referenceAllele": "G", "start": 1570557 } ], "hgvs": [ "NG_012232.1:g.1570558G>A", "LRG_199:g.1570558G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002304" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2296, "referenceAllele": "G", "start": 2295 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000358062.7:c.2296G>A" ], "proteinEffect": { "hgvs": "ENSP00000350765.3:p.Asp766Asn", "hgvsWellDefined": "ENSP00000350765.3:p.Asp766Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS904459" }, { "coordinates": [ { "allele": "A", "end": 1111, "referenceAllele": "G", "start": 1110 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000682238.1:c.70G>A" ], "proteinEffect": { "hgvs": "ENSP00000508124.1:p.Asp24Asn", "hgvsWellDefined": "ENSP00000508124.1:p.Asp24Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS827233" }, { "coordinates": [ { "allele": "A", "end": 1111, "referenceAllele": "G", "start": 1110 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000683117.1:n.1111G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828102" }, { "coordinates": [ { "allele": "A", "end": 1033, "referenceAllele": "G", "start": 1032 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000683450.1:n.1033G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828427" }, { "coordinates": [ { "allele": "A", "end": 1111, "referenceAllele": "G", "start": 1110 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000683851.1:n.1111G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828818" }, { "coordinates": [ { "allele": "A", "end": 942, "referenceAllele": "G", "start": 941 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000683957.1:n.942G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828920" }, { "coordinates": [ { "allele": "A", "end": 1111, "referenceAllele": "G", "start": 1110 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000684130.1:c.70G>A" ], "proteinEffect": { "hgvs": "ENSP00000508037.1:p.Asp24Asn", "hgvsWellDefined": "ENSP00000508037.1:p.Asp24Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS829088" }, { "coordinates": [ { "allele": "A", "end": 7687, "referenceAllele": "G", "start": 7686 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000357033.9:c.7450G>A" ], "proteinEffect": { "hgvs": "ENSP00000354923.3:p.Asp2484Asn", "hgvsWellDefined": "ENSP00000354923.3:p.Asp2484Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS748881", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357033.9:c.7450G>A" }, "RefSeq": { "hgvs": "NM_004006.3:c.7450G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000354923.3:p.Asp2484Asn" }, "RefSeq": { "hgvs": "NP_003997.2:p.Asp2484Asn" } } } }, { "coordinates": [ { "allele": "A", "end": 3598, "referenceAllele": "G", "start": 3597 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000619831.5:c.3418G>A" ], "proteinEffect": { "hgvs": "ENSP00000479270.2:p.Asp1140Asn", "hgvsWellDefined": "ENSP00000479270.2:p.Asp1140Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS762247" }, { "coordinates": [ { "allele": "A", "end": 1111, "referenceAllele": "G", "start": 1110 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000620040.5:c.70G>A" ], "proteinEffect": { "hgvs": "ENSP00000478150.2:p.Asp24Asn", "hgvsWellDefined": "ENSP00000478150.2:p.Asp24Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS762258" }, { "coordinates": [ { "allele": "A", "end": 1111, "referenceAllele": "G", "start": 1110 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000680961.1:c.70G>A" ], "proteinEffect": { "hgvs": "ENSP00000506386.1:p.Asp24Asn", "hgvsWellDefined": "ENSP00000506386.1:p.Asp24Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS780575" }, { "coordinates": [ { "allele": "A", "end": 1111, "referenceAllele": "G", "start": 1110 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000681646.1:n.1111G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS781252" }, { "coordinates": [ { "allele": "A", "end": 579, "referenceAllele": "G", "start": 578 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000681839.1:c.439G>A" ], "proteinEffect": { "hgvs": "ENSP00000505228.1:p.Asp147Asn", "hgvsWellDefined": "ENSP00000505228.1:p.Asp147Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS781441" }, { "coordinates": [ { "allele": "A", "end": 7657, "referenceAllele": "G", "start": 7656 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000357033.8:c.7450G>A" ], "proteinEffect": { "hgvs": "ENSP00000354923.3:p.Asp2484Asn", "hgvsWellDefined": "ENSP00000354923.3:p.Asp2484Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS263955" }, { "coordinates": [ { "allele": "A", "end": 538, "referenceAllele": "G", "start": 537 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000358062.6:c.538G>A" ], "proteinEffect": { "hgvs": "ENSP00000350765.2:p.Asp180Asn", "hgvsWellDefined": "ENSP00000350765.2:p.Asp180Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS264318" }, { "coordinates": [ { "allele": "A", "end": 1111, "referenceAllele": "G", "start": 1110 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000359836.5:c.70G>A" ], "proteinEffect": { "hgvs": "ENSP00000352894.1:p.Asp24Asn", "hgvsWellDefined": "ENSP00000352894.1:p.Asp24Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS264919" }, { "coordinates": [ { "allele": "A", "end": 7633, "referenceAllele": "G", "start": 7632 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000378677.6:c.7438G>A" ], "proteinEffect": { "hgvs": "ENSP00000367948.2:p.Asp2480Asn", "hgvsWellDefined": "ENSP00000367948.2:p.Asp2480Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS272146" }, { "coordinates": [ { "allele": "A", "end": 1111, "referenceAllele": "G", "start": 1110 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000378707.7:c.70G>A" ], "proteinEffect": { "hgvs": "ENSP00000367979.3:p.Asp24Asn", "hgvsWellDefined": "ENSP00000367979.3:p.Asp24Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS272163" }, { "coordinates": [ { "allele": "A", "end": 207, "referenceAllele": "G", "start": 206 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000471779.1:c.207G>A" ], "proteinEffect": { "hgvs": "ENSP00000417075.1:n.207G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS313901" }, { "coordinates": [ { "allele": "A", "end": 1111, "referenceAllele": "G", "start": 1110 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000474231.5:c.70G>A" ], "proteinEffect": { "hgvs": "ENSP00000417123.1:p.Asp24Asn", "hgvsWellDefined": "ENSP00000417123.1:p.Asp24Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS315787" }, { "coordinates": [ { "allele": "A", "end": 1111, "referenceAllele": "G", "start": 1110 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000541735.5:c.70G>A" ], "proteinEffect": { "hgvs": "ENSP00000444119.1:p.Asp24Asn", "hgvsWellDefined": "ENSP00000444119.1:p.Asp24Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS363087" }, { "coordinates": [ { "allele": "A", "end": 7435, "referenceAllele": "G", "start": 7434 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000619831.4:c.7435G>A" ], "proteinEffect": { "hgvs": "ENSP00000479270.1:p.Asp2479Asn", "hgvsWellDefined": "ENSP00000479270.1:p.Asp2479Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS404545" }, { "coordinates": [ { "allele": "A", "end": 7447, "referenceAllele": "G", "start": 7446 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000620040.4:c.7447G>A" ], "proteinEffect": { "hgvs": "ENSP00000478150.1:p.Asp2483Asn", "hgvsWellDefined": "ENSP00000478150.1:p.Asp2483Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS404642" }, { "coordinates": [ { "allele": "A", "end": 7770, "referenceAllele": "G", "start": 7769 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_000109.3:c.7426G>A" ], "proteinEffect": { "hgvs": "NP_000100.2:p.Asp2476Asn", "hgvsWellDefined": "NP_000100.2:p.Asp2476Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS006172" }, { "@id": "http://reg.genome.network/allele/PA891852748", "coordinates": [ { "allele": "A", "end": 7694, "referenceAllele": "G", "start": 7693 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004006.2:c.7450G>A", "LRG_199t1:c.7450G>A" ], "proteinEffect": { "hgvs": "NP_003997.1:p.Asp2484Asn", "hgvsWellDefined": "NP_003997.1:p.Asp2484Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS029203" }, { "@id": "http://reg.genome.network/allele/PA2829492983", "coordinates": [ { "allele": "A", "end": 7701, "referenceAllele": "G", "start": 7700 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004009.3:c.7438G>A" ], "proteinEffect": { "hgvs": "NP_004000.1:p.Asp2480Asn", "hgvsWellDefined": "NP_004000.1:p.Asp2480Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS029204" }, { "@id": "http://reg.genome.network/allele/PA2829498236", "coordinates": [ { "allele": "A", "end": 7784, "referenceAllele": "G", "start": 7783 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004010.3:c.7081G>A" ], "proteinEffect": { "hgvs": "NP_004001.1:p.Asp2361Asn", "hgvsWellDefined": "NP_004001.1:p.Asp2361Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS029205" }, { "coordinates": [ { "allele": "A", "end": 3472, "referenceAllele": "G", "start": 3471 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004011.3:c.3427G>A" ], "proteinEffect": { "hgvs": "NP_004002.2:p.Asp1143Asn", "hgvsWellDefined": "NP_004002.2:p.Asp1143Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS029206" }, { "coordinates": [ { "allele": "A", "end": 3615, "referenceAllele": "G", "start": 3614 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004012.3:c.3418G>A" ], "proteinEffect": { "hgvs": "NP_004003.1:p.Asp1140Asn", "hgvsWellDefined": "NP_004003.1:p.Asp1140Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS029207" }, { "coordinates": [ { "allele": "A", "end": 1111, "referenceAllele": "G", "start": 1110 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004013.2:c.70G>A" ], "proteinEffect": { "hgvs": "NP_004004.1:p.Asp24Asn", "hgvsWellDefined": "NP_004004.1:p.Asp24Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS029208" }, { "coordinates": [ { "allele": "A", "end": 1111, "referenceAllele": "G", "start": 1110 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004020.3:c.70G>A" ], "proteinEffect": { "hgvs": "NP_004011.2:p.Asp24Asn", "hgvsWellDefined": "NP_004011.2:p.Asp24Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS029215" }, { "coordinates": [ { "allele": "A", "end": 1111, "referenceAllele": "G", "start": 1110 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004021.2:c.70G>A" ], "proteinEffect": { "hgvs": "NP_004012.1:p.Asp24Asn", "hgvsWellDefined": "NP_004012.1:p.Asp24Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS029216" }, { "coordinates": [ { "allele": "A", "end": 1111, "referenceAllele": "G", "start": 1110 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004022.2:c.70G>A" ], "proteinEffect": { "hgvs": "NP_004013.1:p.Asp24Asn", "hgvsWellDefined": "NP_004013.1:p.Asp24Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS029217" }, { "coordinates": [ { "allele": "A", "end": 1111, "referenceAllele": "G", "start": 1110 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004023.2:c.70G>A" ], "proteinEffect": { "hgvs": "NP_004014.1:p.Asp24Asn", "hgvsWellDefined": "NP_004014.1:p.Asp24Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS029218" }, { "coordinates": [ { "allele": "A", "end": 7647, "referenceAllele": "G", "start": 7646 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724468.2:c.7450G>A" ], "proteinEffect": { "hgvs": "XP_006724531.1:p.Asp2484Asn", "hgvsWellDefined": "XP_006724531.1:p.Asp2484Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS075527" }, { "coordinates": [ { "allele": "A", "end": 7529, "referenceAllele": "G", "start": 7528 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724469.2:c.7426G>A" ], "proteinEffect": { "hgvs": "XP_006724532.1:p.Asp2476Asn", "hgvsWellDefined": "XP_006724532.1:p.Asp2476Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS075528" }, { "coordinates": [ { "allele": "A", "end": 7647, "referenceAllele": "G", "start": 7646 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724470.2:c.7450G>A" ], "proteinEffect": { "hgvs": "XP_006724533.1:p.Asp2484Asn", "hgvsWellDefined": "XP_006724533.1:p.Asp2484Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS075529" }, { "coordinates": [ { "allele": "A", "end": 7647, "referenceAllele": "G", "start": 7646 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724471.2:c.7450G>A" ], "proteinEffect": { "hgvs": "XP_006724534.1:p.Asp2484Asn", "hgvsWellDefined": "XP_006724534.1:p.Asp2484Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS075530" }, { "coordinates": [ { "allele": "A", "end": 7518, "referenceAllele": "G", "start": 7517 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724472.2:c.7321G>A" ], "proteinEffect": { "hgvs": "XP_006724535.1:p.Asp2441Asn", "hgvsWellDefined": "XP_006724535.1:p.Asp2441Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS075531" }, { "coordinates": [ { "allele": "A", "end": 7509, "referenceAllele": "G", "start": 7508 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724473.2:c.7312G>A" ], "proteinEffect": { "hgvs": "XP_006724536.1:p.Asp2438Asn", "hgvsWellDefined": "XP_006724536.1:p.Asp2438Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS075532" }, { "coordinates": [ { "allele": "A", "end": 7647, "referenceAllele": "G", "start": 7646 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724474.2:c.7450G>A" ], "proteinEffect": { "hgvs": "XP_006724537.1:p.Asp2484Asn", "hgvsWellDefined": "XP_006724537.1:p.Asp2484Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS075533" }, { "coordinates": [ { "allele": "A", "end": 7647, "referenceAllele": "G", "start": 7646 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724475.2:c.7450G>A" ], "proteinEffect": { "hgvs": "XP_006724538.1:p.Asp2484Asn", "hgvsWellDefined": "XP_006724538.1:p.Asp2484Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS075534" }, { "coordinates": [ { "allele": "A", "end": 7524, "referenceAllele": "G", "start": 7523 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_011545467.1:c.7327G>A" ], "proteinEffect": { "hgvs": "XP_011543769.1:p.Asp2443Asn", "hgvsWellDefined": "XP_011543769.1:p.Asp2443Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS112367" }, { "coordinates": [ { "allele": "A", "end": 7647, "referenceAllele": "G", "start": 7646 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_011545468.1:c.7450G>A" ], "proteinEffect": { "hgvs": "XP_011543770.1:p.Asp2484Asn", "hgvsWellDefined": "XP_011543770.1:p.Asp2484Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS112368" }, { "coordinates": [ { "allele": "A", "end": 7621, "referenceAllele": "G", "start": 7620 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724469.3:c.7426G>A" ], "proteinEffect": { "hgvs": "XP_006724532.1:p.Asp2476Asn", "hgvsWellDefined": "XP_006724532.1:p.Asp2476Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS540982" }, { "coordinates": [ { "allele": "A", "end": 7647, "referenceAllele": "G", "start": 7646 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724470.3:c.7450G>A" ], "proteinEffect": { "hgvs": "XP_006724533.1:p.Asp2484Asn", "hgvsWellDefined": "XP_006724533.1:p.Asp2484Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS540983" }, { "coordinates": [ { "allele": "A", "end": 7647, "referenceAllele": "G", "start": 7646 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724474.3:c.7450G>A" ], "proteinEffect": { "hgvs": "XP_006724537.1:p.Asp2484Asn", "hgvsWellDefined": "XP_006724537.1:p.Asp2484Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS540984" }, { "coordinates": [ { "allele": "A", "end": 7647, "referenceAllele": "G", "start": 7646 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_011545468.2:c.7450G>A" ], "proteinEffect": { "hgvs": "XP_011543770.1:p.Asp2484Asn", "hgvsWellDefined": "XP_011543770.1:p.Asp2484Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS556096" }, { "coordinates": [ { "allele": "A", "end": 7647, "referenceAllele": "G", "start": 7646 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_017029328.1:c.7450G>A" ], "proteinEffect": { "hgvs": "XP_016884817.1:p.Asp2484Asn", "hgvsWellDefined": "XP_016884817.1:p.Asp2484Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS578892" }, { "coordinates": [ { "allele": "A", "end": 2223, "referenceAllele": "G", "start": 2222 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_017029331.1:c.1624G>A" ], "proteinEffect": { "hgvs": "XP_016884820.1:p.Asp542Asn", "hgvsWellDefined": "XP_016884820.1:p.Asp542Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS578895" }, { "@id": "http://reg.genome.network/allele/PA2825073986", "coordinates": [ { "allele": "A", "end": 7549, "referenceAllele": "G", "start": 7548 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_000109.4:c.7426G>A" ], "proteinEffect": { "hgvs": "NP_000100.3:p.Asp2476Asn", "hgvsWellDefined": "NP_000100.3:p.Asp2476Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS674704" }, { "@id": "http://reg.genome.network/allele/PA2829486374", "coordinates": [ { "allele": "A", "end": 7687, "referenceAllele": "G", "start": 7686 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004006.3:c.7450G>A" ], "proteinEffect": { "hgvs": "NP_003997.2:p.Asp2484Asn", "hgvsWellDefined": "NP_003997.2:p.Asp2484Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS696014", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357033.9:c.7450G>A" }, "RefSeq": { "hgvs": "NM_004006.3:c.7450G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000354923.3:p.Asp2484Asn" }, "RefSeq": { "hgvs": "NP_003997.2:p.Asp2484Asn" } } } }, { "@id": "http://reg.genome.network/allele/PA2829499978", "coordinates": [ { "allele": "A", "end": 3446, "referenceAllele": "G", "start": 3445 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004011.4:c.3427G>A" ], "proteinEffect": { "hgvs": "NP_004002.3:p.Asp1143Asn", "hgvsWellDefined": "NP_004002.3:p.Asp1143Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS696015" }, { "@id": "http://reg.genome.network/allele/PA2829502569", "coordinates": [ { "allele": "A", "end": 3589, "referenceAllele": "G", "start": 3588 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004012.4:c.3418G>A" ], "proteinEffect": { "hgvs": "NP_004003.2:p.Asp1140Asn", "hgvsWellDefined": "NP_004003.2:p.Asp1140Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS696016" }, { "@id": "http://reg.genome.network/allele/PA2829509283", "coordinates": [ { "allele": "A", "end": 1111, "referenceAllele": "G", "start": 1110 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004021.3:c.70G>A" ], "proteinEffect": { "hgvs": "NP_004012.2:p.Asp24Asn", "hgvsWellDefined": "NP_004012.2:p.Asp24Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS696022" }, { "@id": "http://reg.genome.network/allele/PA916002490", "coordinates": [ { "allele": "A", "end": 1111, "referenceAllele": "G", "start": 1110 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004023.3:c.70G>A" ], "proteinEffect": { "hgvs": "NP_004014.2:p.Asp24Asn", "hgvsWellDefined": "NP_004014.2:p.Asp24Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS696023" }, { "@id": "http://reg.genome.network/allele/PA2829503780", "coordinates": [ { "allele": "A", "end": 1111, "referenceAllele": "G", "start": 1110 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004013.3:c.70G>A" ], "proteinEffect": { "hgvs": "NP_004004.2:p.Asp24Asn", "hgvsWellDefined": "NP_004004.2:p.Asp24Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS727462" }, { "@id": "http://reg.genome.network/allele/PA2829508154", "coordinates": [ { "allele": "A", "end": 1111, "referenceAllele": "G", "start": 1110 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004020.4:c.70G>A" ], "proteinEffect": { "hgvs": "NP_004011.3:p.Asp24Asn", "hgvsWellDefined": "NP_004011.3:p.Asp24Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS727464" }, { "@id": "http://reg.genome.network/allele/PA2829510464", "coordinates": [ { "allele": "A", "end": 1111, "referenceAllele": "G", "start": 1110 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004022.3:c.70G>A" ], "proteinEffect": { "hgvs": "NP_004013.2:p.Asp24Asn", "hgvsWellDefined": "NP_004013.2:p.Asp24Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS727465" } ], "type": "nucleotide" }