{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA308397", "communityStandardTitle": [ "NM_004006.3(DMD):c.5230A>G (p.Asn1744Asp)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=198576[alleleid]", "alleleId": 198576, "preferredName": "NM_004006.3(DMD):c.5230A>G (p.Asn1744Asp)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/201750", "RCV": [ "RCV000183414", "RCV000527743", "RCV004020212" ], "variationId": 201750 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/X-32381000-T-C", "id": "X-32381000-T-C", "variant": "X:32381000 T / C" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.32381000T>C?assembly=hg19", "id": "chrX:g.32381000T>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.32362883T>C?assembly=hg38", "id": "chrX:g.32362883T>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/376234802", "rs": 376234802 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/X-32381000-T-C?dataset=gnomad_r2_1", "id": "X-32381000-T-C", "variant": "X:32381000 T / C" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/X-32362883-T-C?dataset=gnomad_r3", "id": "X-32362883-T-C", "variant": "X:32362883 T / C" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/X-32362883-T-C?dataset=gnomad_r4", "id": "X-32362883-T-C", "variant": "X:32362883 T / C" } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "C", "end": 32362883, "referenceAllele": "T", "start": 32362882 } ], "hgvs": [ "NC_000023.11:g.32362883T>C", "CM000685.2:g.32362883T>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "C", "end": 32381000, "referenceAllele": "T", "start": 32380999 } ], "hgvs": [ "NC_000023.10:g.32381000T>C", "CM000685.1:g.32381000T>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "C", "end": 32290921, "referenceAllele": "T", "start": 32290920 } ], "hgvs": [ "NC_000023.9:g.32290921T>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "G", "end": 981727, "referenceAllele": "A", "start": 981726 } ], "hgvs": [ "NG_012232.1:g.981727A>G", "LRG_199:g.981727A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS002304" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 76, "referenceAllele": "A", "start": 75 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000358062.7:c.76A>G" ], "proteinEffect": { "hgvs": "ENSP00000350765.3:p.Asn26Asp", "hgvsWellDefined": "ENSP00000350765.3:p.Asn26Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS904459" }, { "coordinates": [ { "allele": "G", "end": 5467, "referenceAllele": "A", "start": 5466 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000357033.9:c.5230A>G" ], "proteinEffect": { "hgvs": "ENSP00000354923.3:p.Asn1744Asp", "hgvsWellDefined": "ENSP00000354923.3:p.Asn1744Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS748881", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357033.9:c.5230A>G" }, "RefSeq": { "hgvs": "NM_004006.3:c.5230A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000354923.3:p.Asn1744Asp" }, "RefSeq": { "hgvs": "NP_003997.2:p.Asn1744Asp" } } } }, { "coordinates": [ { "allele": "G", "end": 1378, "referenceAllele": "A", "start": 1377 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000619831.5:c.1198A>G" ], "proteinEffect": { "hgvs": "ENSP00000479270.2:p.Asn400Asp", "hgvsWellDefined": "ENSP00000479270.2:p.Asn400Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS762247" }, { "coordinates": [ { "allele": "G", "end": 5437, "referenceAllele": "A", "start": 5436 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000357033.8:c.5230A>G" ], "proteinEffect": { "hgvs": "ENSP00000354923.3:p.Asn1744Asp", "hgvsWellDefined": "ENSP00000354923.3:p.Asn1744Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS263955" }, { "coordinates": [ { "allele": "G", "end": 5413, "referenceAllele": "A", "start": 5412 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000378677.6:c.5218A>G" ], "proteinEffect": { "hgvs": "ENSP00000367948.2:p.Asn1740Asp", "hgvsWellDefined": "ENSP00000367948.2:p.Asn1740Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS272146" }, { "coordinates": [ { "allele": "G", "end": 335, "endIntronDirection": "-", "endIntronOffset": 145819, "referenceAllele": "A", "start": 335, "startIntronDirection": "-", "startIntronOffset": 145820 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000488902.5:n.336-145820A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS327073" }, { "coordinates": [ { "allele": "G", "end": 5218, "referenceAllele": "A", "start": 5217 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000619831.4:c.5218A>G" ], "proteinEffect": { "hgvs": "ENSP00000479270.1:p.Asn1740Asp", "hgvsWellDefined": "ENSP00000479270.1:p.Asn1740Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS404545" }, { "coordinates": [ { "allele": "G", "end": 5230, "referenceAllele": "A", "start": 5229 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000620040.4:c.5230A>G" ], "proteinEffect": { "hgvs": "ENSP00000478150.1:p.Asn1744Asp", "hgvsWellDefined": "ENSP00000478150.1:p.Asn1744Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS404642" }, { "coordinates": [ { "allele": "G", "end": 5550, "referenceAllele": "A", "start": 5549 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_000109.3:c.5206A>G" ], "proteinEffect": { "hgvs": "NP_000100.2:p.Asn1736Asp", "hgvsWellDefined": "NP_000100.2:p.Asn1736Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS006172" }, { "@id": "http://reg.genome.network/allele/PA308399", "coordinates": [ { "allele": "G", "end": 5474, "referenceAllele": "A", "start": 5473 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004006.2:c.5230A>G", "LRG_199t1:c.5230A>G" ], "proteinEffect": { "hgvs": "NP_003997.1:p.Asn1744Asp", "hgvsWellDefined": "NP_003997.1:p.Asn1744Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS029203" }, { "@id": "http://reg.genome.network/allele/PA2829491846", "coordinates": [ { "allele": "G", "end": 5481, "referenceAllele": "A", "start": 5480 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004009.3:c.5218A>G" ], "proteinEffect": { "hgvs": "NP_004000.1:p.Asn1740Asp", "hgvsWellDefined": "NP_004000.1:p.Asn1740Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS029204" }, { "@id": "http://reg.genome.network/allele/PA2829497359", "coordinates": [ { "allele": "G", "end": 5564, "referenceAllele": "A", "start": 5563 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004010.3:c.4861A>G" ], "proteinEffect": { "hgvs": "NP_004001.1:p.Asn1621Asp", "hgvsWellDefined": "NP_004001.1:p.Asn1621Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS029205" }, { "coordinates": [ { "allele": "G", "end": 1252, "referenceAllele": "A", "start": 1251 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004011.3:c.1207A>G" ], "proteinEffect": { "hgvs": "NP_004002.2:p.Asn403Asp", "hgvsWellDefined": "NP_004002.2:p.Asn403Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS029206" }, { "coordinates": [ { "allele": "G", "end": 1395, "referenceAllele": "A", "start": 1394 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004012.3:c.1198A>G" ], "proteinEffect": { "hgvs": "NP_004003.1:p.Asn400Asp", "hgvsWellDefined": "NP_004003.1:p.Asn400Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS029207" }, { "coordinates": [ { "allele": "G", "end": 5427, "referenceAllele": "A", "start": 5426 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724468.2:c.5230A>G" ], "proteinEffect": { "hgvs": "XP_006724531.1:p.Asn1744Asp", "hgvsWellDefined": "XP_006724531.1:p.Asn1744Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS075527" }, { "coordinates": [ { "allele": "G", "end": 5309, "referenceAllele": "A", "start": 5308 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724469.2:c.5206A>G" ], "proteinEffect": { "hgvs": "XP_006724532.1:p.Asn1736Asp", "hgvsWellDefined": "XP_006724532.1:p.Asn1736Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS075528" }, { "coordinates": [ { "allele": "G", "end": 5427, "referenceAllele": "A", "start": 5426 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724470.2:c.5230A>G" ], "proteinEffect": { "hgvs": "XP_006724533.1:p.Asn1744Asp", "hgvsWellDefined": "XP_006724533.1:p.Asn1744Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS075529" }, { "coordinates": [ { "allele": "G", "end": 5427, "referenceAllele": "A", "start": 5426 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724471.2:c.5230A>G" ], "proteinEffect": { "hgvs": "XP_006724534.1:p.Asn1744Asp", "hgvsWellDefined": "XP_006724534.1:p.Asn1744Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS075530" }, { "coordinates": [ { "allele": "G", "end": 5298, "referenceAllele": "A", "start": 5297 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724472.2:c.5101A>G" ], "proteinEffect": { "hgvs": "XP_006724535.1:p.Asn1701Asp", "hgvsWellDefined": "XP_006724535.1:p.Asn1701Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS075531" }, { "coordinates": [ { "allele": "G", "end": 5427, "referenceAllele": "A", "start": 5426 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724473.2:c.5230A>G" ], "proteinEffect": { "hgvs": "XP_006724536.1:p.Asn1744Asp", "hgvsWellDefined": "XP_006724536.1:p.Asn1744Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS075532" }, { "coordinates": [ { "allele": "G", "end": 5427, "referenceAllele": "A", "start": 5426 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724474.2:c.5230A>G" ], "proteinEffect": { "hgvs": "XP_006724537.1:p.Asn1744Asp", "hgvsWellDefined": "XP_006724537.1:p.Asn1744Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS075533" }, { "coordinates": [ { "allele": "G", "end": 5427, "referenceAllele": "A", "start": 5426 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724475.2:c.5230A>G" ], "proteinEffect": { "hgvs": "XP_006724538.1:p.Asn1744Asp", "hgvsWellDefined": "XP_006724538.1:p.Asn1744Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS075534" }, { "coordinates": [ { "allele": "G", "end": 5427, "referenceAllele": "A", "start": 5426 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_011545467.1:c.5230A>G" ], "proteinEffect": { "hgvs": "XP_011543769.1:p.Asn1744Asp", "hgvsWellDefined": "XP_011543769.1:p.Asn1744Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS112367" }, { "coordinates": [ { "allele": "G", "end": 5427, "referenceAllele": "A", "start": 5426 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_011545468.1:c.5230A>G" ], "proteinEffect": { "hgvs": "XP_011543770.1:p.Asn1744Asp", "hgvsWellDefined": "XP_011543770.1:p.Asn1744Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS112368" }, { "coordinates": [ { "allele": "G", "end": 5427, "referenceAllele": "A", "start": 5426 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_011545469.1:c.5230A>G" ], "proteinEffect": { "hgvs": "XP_011543771.1:p.Asn1744Asp", "hgvsWellDefined": "XP_011543771.1:p.Asn1744Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS112369" }, { "coordinates": [ { "allele": "G", "end": 5401, "referenceAllele": "A", "start": 5400 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724469.3:c.5206A>G" ], "proteinEffect": { "hgvs": "XP_006724532.1:p.Asn1736Asp", "hgvsWellDefined": "XP_006724532.1:p.Asn1736Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS540982" }, { "coordinates": [ { "allele": "G", "end": 5427, "referenceAllele": "A", "start": 5426 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724470.3:c.5230A>G" ], "proteinEffect": { "hgvs": "XP_006724533.1:p.Asn1744Asp", "hgvsWellDefined": "XP_006724533.1:p.Asn1744Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS540983" }, { "coordinates": [ { "allele": "G", "end": 5427, "referenceAllele": "A", "start": 5426 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724474.3:c.5230A>G" ], "proteinEffect": { "hgvs": "XP_006724537.1:p.Asn1744Asp", "hgvsWellDefined": "XP_006724537.1:p.Asn1744Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS540984" }, { "coordinates": [ { "allele": "G", "end": 5427, "referenceAllele": "A", "start": 5426 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_011545468.2:c.5230A>G" ], "proteinEffect": { "hgvs": "XP_011543770.1:p.Asn1744Asp", "hgvsWellDefined": "XP_011543770.1:p.Asn1744Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS556096" }, { "coordinates": [ { "allele": "G", "end": 5427, "referenceAllele": "A", "start": 5426 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_017029328.1:c.5230A>G" ], "proteinEffect": { "hgvs": "XP_016884817.1:p.Asn1744Asp", "hgvsWellDefined": "XP_016884817.1:p.Asn1744Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS578892" }, { "coordinates": [ { "allele": "G", "end": 5427, "referenceAllele": "A", "start": 5426 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_017029329.1:c.5230A>G" ], "proteinEffect": { "hgvs": "XP_016884818.1:p.Asn1744Asp", "hgvsWellDefined": "XP_016884818.1:p.Asn1744Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS578893" }, { "coordinates": [ { "allele": "G", "end": 5427, "referenceAllele": "A", "start": 5426 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_017029330.2:c.5230A>G" ], "proteinEffect": { "hgvs": "XP_016884819.1:p.Asn1744Asp", "hgvsWellDefined": "XP_016884819.1:p.Asn1744Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS578894" }, { "@id": "http://reg.genome.network/allele/PA2825073110", "coordinates": [ { "allele": "G", "end": 5329, "referenceAllele": "A", "start": 5328 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_000109.4:c.5206A>G" ], "proteinEffect": { "hgvs": "NP_000100.3:p.Asn1736Asp", "hgvsWellDefined": "NP_000100.3:p.Asn1736Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS674704" }, { "@id": "http://reg.genome.network/allele/PA2829484743", "coordinates": [ { "allele": "G", "end": 5467, "referenceAllele": "A", "start": 5466 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004006.3:c.5230A>G" ], "proteinEffect": { "hgvs": "NP_003997.2:p.Asn1744Asp", "hgvsWellDefined": "NP_003997.2:p.Asn1744Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS696014", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357033.9:c.5230A>G" }, "RefSeq": { "hgvs": "NM_004006.3:c.5230A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000354923.3:p.Asn1744Asp" }, "RefSeq": { "hgvs": "NP_003997.2:p.Asn1744Asp" } } } }, { "@id": "http://reg.genome.network/allele/PA916001684", "coordinates": [ { "allele": "G", "end": 1226, "referenceAllele": "A", "start": 1225 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004011.4:c.1207A>G" ], "proteinEffect": { "hgvs": "NP_004002.3:p.Asn403Asp", "hgvsWellDefined": "NP_004002.3:p.Asn403Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS696015" }, { "@id": "http://reg.genome.network/allele/PA2829501693", "coordinates": [ { "allele": "G", "end": 1369, "referenceAllele": "A", "start": 1368 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004012.4:c.1198A>G" ], "proteinEffect": { "hgvs": "NP_004003.2:p.Asn400Asp", "hgvsWellDefined": "NP_004003.2:p.Asn400Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS696016" } ], "type": "nucleotide" }