{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA328490657", "communityStandardTitle": [ "NM_004006.3(DMD):c.6464G>A (p.Arg2155Gln)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=572433[alleleid]", "alleleId": 572433, "preferredName": "NM_004006.3(DMD):c.6464G>A (p.Arg2155Gln)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/582667", "RCV": [ "RCV000706797", "RCV001835932", "RCV002261195" ], "variationId": 582667 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.31986606C>T?assembly=hg19", "id": "chrX:g.31986606C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.31968489C>T?assembly=hg38", "id": "chrX:g.31968489C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/892121336", "rs": 892121336 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/X-31986606-C-T?dataset=gnomad_r2_1", "id": "X-31986606-C-T", "variant": "X:31986606 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/X-31968489-C-T?dataset=gnomad_r4", "id": "X-31968489-C-T", "variant": "X:31968489 C / T" } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 31968489, "referenceAllele": "C", "start": 31968488 } ], "hgvs": [ "NC_000023.11:g.31968489C>T", "CM000685.2:g.31968489C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 31986606, "referenceAllele": "C", "start": 31986605 } ], "hgvs": [ "NC_000023.10:g.31986606C>T", "CM000685.1:g.31986606C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 31896527, "referenceAllele": "C", "start": 31896526 } ], "hgvs": [ "NC_000023.9:g.31896527C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "A", "end": 1376121, "referenceAllele": "G", "start": 1376120 } ], "hgvs": [ "NG_012232.1:g.1376121G>A", "LRG_199:g.1376121G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002304" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1310, "referenceAllele": "G", "start": 1309 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000358062.7:c.1310G>A" ], "proteinEffect": { "hgvs": "ENSP00000350765.3:p.Arg437Gln", "hgvsWellDefined": "ENSP00000350765.3:p.Arg437Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS904459" }, { "coordinates": [ { "allele": "A", "end": 125, "referenceAllele": "G", "start": 124 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000682135.1:n.125G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827132" }, { "coordinates": [ { "allele": "A", "end": 125, "referenceAllele": "G", "start": 124 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000682183.1:n.125G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827180" }, { "coordinates": [ { "allele": "A", "end": 125, "referenceAllele": "G", "start": 124 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000682238.1:c.-917G>A" ], "proteinEffect": { "hgvs": "ENSP00000508124.1:n.-917G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS827233" }, { "coordinates": [ { "allele": "A", "end": 125, "referenceAllele": "G", "start": 124 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000683117.1:n.125G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828102" }, { "coordinates": [ { "allele": "A", "end": 125, "referenceAllele": "G", "start": 124 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000683450.1:n.125G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828427" }, { "coordinates": [ { "allele": "A", "end": 125, "referenceAllele": "G", "start": 124 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000683851.1:n.125G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828818" }, { "coordinates": [ { "allele": "A", "end": 125, "referenceAllele": "G", "start": 124 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000684130.1:c.-917G>A" ], "proteinEffect": { "hgvs": "ENSP00000508037.1:n.-917G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS829088" }, { "coordinates": [ { "allele": "A", "end": 6701, "referenceAllele": "G", "start": 6700 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000357033.9:c.6464G>A" ], "proteinEffect": { "hgvs": "ENSP00000354923.3:p.Arg2155Gln", "hgvsWellDefined": "ENSP00000354923.3:p.Arg2155Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS748881", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357033.9:c.6464G>A" }, "RefSeq": { "hgvs": "NM_004006.3:c.6464G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000354923.3:p.Arg2155Gln" }, "RefSeq": { "hgvs": "NP_003997.2:p.Arg2155Gln" } } } }, { "coordinates": [ { "allele": "A", "end": 2612, "referenceAllele": "G", "start": 2611 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000619831.5:c.2432G>A" ], "proteinEffect": { "hgvs": "ENSP00000479270.2:p.Arg811Gln", "hgvsWellDefined": "ENSP00000479270.2:p.Arg811Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS762247" }, { "coordinates": [ { "allele": "A", "end": 125, "referenceAllele": "G", "start": 124 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000620040.5:c.-917G>A" ], "proteinEffect": { "hgvs": "ENSP00000478150.2:n.-917G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS762258" }, { "coordinates": [ { "allele": "A", "end": 125, "referenceAllele": "G", "start": 124 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000680961.1:c.-917G>A" ], "proteinEffect": { "hgvs": "ENSP00000506386.1:n.-917G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS780575" }, { "coordinates": [ { "allele": "A", "end": 125, "referenceAllele": "G", "start": 124 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000681646.1:n.125G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS781252" }, { "coordinates": [ { "allele": "A", "end": 6671, "referenceAllele": "G", "start": 6670 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000357033.8:c.6464G>A" ], "proteinEffect": { "hgvs": "ENSP00000354923.3:p.Arg2155Gln", "hgvsWellDefined": "ENSP00000354923.3:p.Arg2155Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS263955" }, { "coordinates": [ { "allele": "A", "end": 125, "referenceAllele": "G", "start": 124 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000359836.5:c.-917G>A" ], "proteinEffect": { "hgvs": "ENSP00000352894.1:n.-917G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS264919" }, { "coordinates": [ { "allele": "A", "end": 6647, "referenceAllele": "G", "start": 6646 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000378677.6:c.6452G>A" ], "proteinEffect": { "hgvs": "ENSP00000367948.2:p.Arg2151Gln", "hgvsWellDefined": "ENSP00000367948.2:p.Arg2151Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS272146" }, { "coordinates": [ { "allele": "A", "end": 125, "referenceAllele": "G", "start": 124 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000378707.7:c.-917G>A" ], "proteinEffect": { "hgvs": "ENSP00000367979.3:n.-917G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS272163" }, { "coordinates": [ { "allele": "A", "end": 125, "referenceAllele": "G", "start": 124 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000474231.5:c.-917G>A" ], "proteinEffect": { "hgvs": "ENSP00000417123.1:n.-917G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS315787" }, { "coordinates": [ { "allele": "A", "end": 509, "referenceAllele": "G", "start": 508 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000488902.5:n.509G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS327073" }, { "coordinates": [ { "allele": "A", "end": 125, "referenceAllele": "G", "start": 124 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000541735.5:c.-917G>A" ], "proteinEffect": { "hgvs": "ENSP00000444119.1:n.-917G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS363087" }, { "coordinates": [ { "allele": "A", "end": 6487, "endIntronDirection": "-", "endIntronOffset": 38, "referenceAllele": "G", "start": 6487, "startIntronDirection": "-", "startIntronOffset": 39 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000619831.4:c.6488-39G>A" ], "proteinEffect": { "hgvs": "ENSP00000479270.1:n.6488-39G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS404545" }, { "coordinates": [ { "allele": "A", "end": 6499, "endIntronDirection": "-", "endIntronOffset": 38, "referenceAllele": "G", "start": 6499, "startIntronDirection": "-", "startIntronOffset": 39 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000620040.4:c.6500-39G>A" ], "proteinEffect": { "hgvs": "ENSP00000478150.1:n.6500-39G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS404642" }, { "coordinates": [ { "allele": "A", "end": 6784, "referenceAllele": "G", "start": 6783 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_000109.3:c.6440G>A" ], "proteinEffect": { "hgvs": "NP_000100.2:p.Arg2147Gln", "hgvsWellDefined": "NP_000100.2:p.Arg2147Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS006172" }, { "@id": "http://reg.genome.network/allele/PA891852710", "coordinates": [ { "allele": "A", "end": 6708, "referenceAllele": "G", "start": 6707 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004006.2:c.6464G>A", "LRG_199t1:c.6464G>A" ], "proteinEffect": { "hgvs": "NP_003997.1:p.Arg2155Gln", "hgvsWellDefined": "NP_003997.1:p.Arg2155Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS029203" }, { "@id": "http://reg.genome.network/allele/PA2829492565", "coordinates": [ { "allele": "A", "end": 6715, "referenceAllele": "G", "start": 6714 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004009.3:c.6452G>A" ], "proteinEffect": { "hgvs": "NP_004000.1:p.Arg2151Gln", "hgvsWellDefined": "NP_004000.1:p.Arg2151Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS029204" }, { "@id": "http://reg.genome.network/allele/PA2829497895", "coordinates": [ { "allele": "A", "end": 6798, "referenceAllele": "G", "start": 6797 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004010.3:c.6095G>A" ], "proteinEffect": { "hgvs": "NP_004001.1:p.Arg2032Gln", "hgvsWellDefined": "NP_004001.1:p.Arg2032Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS029205" }, { "coordinates": [ { "allele": "A", "end": 2486, "referenceAllele": "G", "start": 2485 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004011.3:c.2441G>A" ], "proteinEffect": { "hgvs": "NP_004002.2:p.Arg814Gln", "hgvsWellDefined": "NP_004002.2:p.Arg814Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS029206" }, { "coordinates": [ { "allele": "A", "end": 2629, "referenceAllele": "G", "start": 2628 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004012.3:c.2432G>A" ], "proteinEffect": { "hgvs": "NP_004003.1:p.Arg811Gln", "hgvsWellDefined": "NP_004003.1:p.Arg811Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS029207" }, { "coordinates": [ { "allele": "A", "end": 125, "referenceAllele": "G", "start": 124 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004013.2:c.-917G>A" ], "proteinEffect": { "hgvs": "NP_004004.1:n.-917G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS029208" }, { "coordinates": [ { "allele": "A", "end": 125, "referenceAllele": "G", "start": 124 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004020.3:c.-917G>A" ], "proteinEffect": { "hgvs": "NP_004011.2:n.-917G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS029215" }, { "coordinates": [ { "allele": "A", "end": 125, "referenceAllele": "G", "start": 124 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004021.2:c.-917G>A" ], "proteinEffect": { "hgvs": "NP_004012.1:n.-917G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS029216" }, { "coordinates": [ { "allele": "A", "end": 125, "referenceAllele": "G", "start": 124 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004022.2:c.-917G>A" ], "proteinEffect": { "hgvs": "NP_004013.1:n.-917G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS029217" }, { "coordinates": [ { "allele": "A", "end": 125, "referenceAllele": "G", "start": 124 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004023.2:c.-917G>A" ], "proteinEffect": { "hgvs": "NP_004014.1:n.-917G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS029218" }, { "coordinates": [ { "allele": "A", "end": 6661, "referenceAllele": "G", "start": 6660 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724468.2:c.6464G>A" ], "proteinEffect": { "hgvs": "XP_006724531.1:p.Arg2155Gln", "hgvsWellDefined": "XP_006724531.1:p.Arg2155Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS075527" }, { "coordinates": [ { "allele": "A", "end": 6543, "referenceAllele": "G", "start": 6542 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724469.2:c.6440G>A" ], "proteinEffect": { "hgvs": "XP_006724532.1:p.Arg2147Gln", "hgvsWellDefined": "XP_006724532.1:p.Arg2147Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS075528" }, { "coordinates": [ { "allele": "A", "end": 6661, "referenceAllele": "G", "start": 6660 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724470.2:c.6464G>A" ], "proteinEffect": { "hgvs": "XP_006724533.1:p.Arg2155Gln", "hgvsWellDefined": "XP_006724533.1:p.Arg2155Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS075529" }, { "coordinates": [ { "allele": "A", "end": 6661, "referenceAllele": "G", "start": 6660 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724471.2:c.6464G>A" ], "proteinEffect": { "hgvs": "XP_006724534.1:p.Arg2155Gln", "hgvsWellDefined": "XP_006724534.1:p.Arg2155Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS075530" }, { "coordinates": [ { "allele": "A", "end": 6532, "referenceAllele": "G", "start": 6531 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724472.2:c.6335G>A" ], "proteinEffect": { "hgvs": "XP_006724535.1:p.Arg2112Gln", "hgvsWellDefined": "XP_006724535.1:p.Arg2112Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS075531" }, { "coordinates": [ { "allele": "A", "end": 6523, "referenceAllele": "G", "start": 6522 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724473.2:c.6326G>A" ], "proteinEffect": { "hgvs": "XP_006724536.1:p.Arg2109Gln", "hgvsWellDefined": "XP_006724536.1:p.Arg2109Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS075532" }, { "coordinates": [ { "allele": "A", "end": 6661, "referenceAllele": "G", "start": 6660 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724474.2:c.6464G>A" ], "proteinEffect": { "hgvs": "XP_006724537.1:p.Arg2155Gln", "hgvsWellDefined": "XP_006724537.1:p.Arg2155Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS075533" }, { "coordinates": [ { "allele": "A", "end": 6661, "referenceAllele": "G", "start": 6660 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724475.2:c.6464G>A" ], "proteinEffect": { "hgvs": "XP_006724538.1:p.Arg2155Gln", "hgvsWellDefined": "XP_006724538.1:p.Arg2155Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS075534" }, { "coordinates": [ { "allele": "A", "end": 6538, "referenceAllele": "G", "start": 6537 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_011545467.1:c.6341G>A" ], "proteinEffect": { "hgvs": "XP_011543769.1:p.Arg2114Gln", "hgvsWellDefined": "XP_011543769.1:p.Arg2114Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS112367" }, { "coordinates": [ { "allele": "A", "end": 6661, "referenceAllele": "G", "start": 6660 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_011545468.1:c.6464G>A" ], "proteinEffect": { "hgvs": "XP_011543770.1:p.Arg2155Gln", "hgvsWellDefined": "XP_011543770.1:p.Arg2155Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS112368" }, { "coordinates": [ { "allele": "A", "end": 6635, "referenceAllele": "G", "start": 6634 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724469.3:c.6440G>A" ], "proteinEffect": { "hgvs": "XP_006724532.1:p.Arg2147Gln", "hgvsWellDefined": "XP_006724532.1:p.Arg2147Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS540982" }, { "coordinates": [ { "allele": "A", "end": 6661, "referenceAllele": "G", "start": 6660 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724470.3:c.6464G>A" ], "proteinEffect": { "hgvs": "XP_006724533.1:p.Arg2155Gln", "hgvsWellDefined": "XP_006724533.1:p.Arg2155Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS540983" }, { "coordinates": [ { "allele": "A", "end": 6661, "referenceAllele": "G", "start": 6660 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724474.3:c.6464G>A" ], "proteinEffect": { "hgvs": "XP_006724537.1:p.Arg2155Gln", "hgvsWellDefined": "XP_006724537.1:p.Arg2155Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS540984" }, { "coordinates": [ { "allele": "A", "end": 6661, "referenceAllele": "G", "start": 6660 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_011545468.2:c.6464G>A" ], "proteinEffect": { "hgvs": "XP_011543770.1:p.Arg2155Gln", "hgvsWellDefined": "XP_011543770.1:p.Arg2155Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS556096" }, { "coordinates": [ { "allele": "A", "end": 6661, "referenceAllele": "G", "start": 6660 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_017029328.1:c.6464G>A" ], "proteinEffect": { "hgvs": "XP_016884817.1:p.Arg2155Gln", "hgvsWellDefined": "XP_016884817.1:p.Arg2155Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS578892" }, { "coordinates": [ { "allele": "A", "end": 1237, "referenceAllele": "G", "start": 1236 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_017029331.1:c.638G>A" ], "proteinEffect": { "hgvs": "XP_016884820.1:p.Arg213Gln", "hgvsWellDefined": "XP_016884820.1:p.Arg213Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS578895" }, { "@id": "http://reg.genome.network/allele/PA2825073647", "coordinates": [ { "allele": "A", "end": 6563, "referenceAllele": "G", "start": 6562 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_000109.4:c.6440G>A" ], "proteinEffect": { "hgvs": "NP_000100.3:p.Arg2147Gln", "hgvsWellDefined": "NP_000100.3:p.Arg2147Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS674704" }, { "@id": "http://reg.genome.network/allele/PA2829485927", "coordinates": [ { "allele": "A", "end": 6701, "referenceAllele": "G", "start": 6700 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004006.3:c.6464G>A" ], "proteinEffect": { "hgvs": "NP_003997.2:p.Arg2155Gln", "hgvsWellDefined": "NP_003997.2:p.Arg2155Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS696014", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357033.9:c.6464G>A" }, "RefSeq": { "hgvs": "NM_004006.3:c.6464G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000354923.3:p.Arg2155Gln" }, "RefSeq": { "hgvs": "NP_003997.2:p.Arg2155Gln" } } } }, { "@id": "http://reg.genome.network/allele/PA916002082", "coordinates": [ { "allele": "A", "end": 2460, "referenceAllele": "G", "start": 2459 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004011.4:c.2441G>A" ], "proteinEffect": { "hgvs": "NP_004002.3:p.Arg814Gln", "hgvsWellDefined": "NP_004002.3:p.Arg814Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS696015" }, { "@id": "http://reg.genome.network/allele/PA2829502229", "coordinates": [ { "allele": "A", "end": 2603, "referenceAllele": "G", "start": 2602 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004012.4:c.2432G>A" ], "proteinEffect": { "hgvs": "NP_004003.2:p.Arg811Gln", "hgvsWellDefined": "NP_004003.2:p.Arg811Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS696016" }, { "coordinates": [ { "allele": "A", "end": 125, "referenceAllele": "G", "start": 124 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004021.3:c.-917G>A" ], "proteinEffect": { "hgvs": "NP_004012.2:n.-917G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS696022" }, { "coordinates": [ { "allele": "A", "end": 125, "referenceAllele": "G", "start": 124 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004023.3:c.-917G>A" ], "proteinEffect": { "hgvs": "NP_004014.2:n.-917G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS696023" }, { "coordinates": [ { "allele": "A", "end": 125, "referenceAllele": "G", "start": 124 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004013.3:c.-917G>A" ], "proteinEffect": { "hgvs": "NP_004004.2:n.-917G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS727462" }, { "coordinates": [ { "allele": "A", "end": 125, "referenceAllele": "G", "start": 124 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004020.4:c.-917G>A" ], "proteinEffect": { "hgvs": "NP_004011.3:n.-917G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS727464" }, { "coordinates": [ { "allele": "A", "end": 125, "referenceAllele": "G", "start": 124 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004022.3:c.-917G>A" ], "proteinEffect": { "hgvs": "NP_004013.2:n.-917G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS727465" } ], "type": "nucleotide" }