{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA2376620", "communityStandardTitle": [ "NM_033629.6(TREX1):c.290G>A (p.Arg97His)", "NM_130384.3(ATRIP):c.*1391G>A" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=227260[alleleid]", "alleleId": 227260, "preferredName": "NM_033629.6(TREX1):c.290G>A (p.Arg97His)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/225498", "RCV": [ "RCV000490435", "RCV001093075", "RCV001853392" ], "variationId": 225498 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/3-48508344-G-A", "id": "3-48508344-G-A", "variant": "3:48508344 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.48508344G>A?assembly=hg19", "id": "chr3:g.48508344G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.48466945G>A?assembly=hg38", "id": "chr3:g.48466945G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/200773268", "rs": 200773268 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/3-48508344-G-A?dataset=gnomad_r2_1", "id": "3-48508344-G-A", "variant": "3:48508344 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/3-48466945-G-A?dataset=gnomad_r3", "id": "3-48466945-G-A", "variant": "3:48466945 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/3-48466945-G-A?dataset=gnomad_r4", "id": "3-48466945-G-A", "variant": "3:48466945 G / A" } ] }, "genomicAlleles": [ { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 48466945, "referenceAllele": "G", "start": 48466944 } ], "hgvs": [ "NC_000003.12:g.48466945G>A", "CM000665.2:g.48466945G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000051" }, { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 48508344, "referenceAllele": "G", "start": 48508343 } ], "hgvs": [ "NC_000003.11:g.48508344G>A", "CM000665.1:g.48508344G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000027" }, { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 48483348, "referenceAllele": "G", "start": 48483347 } ], "hgvs": [ "NC_000003.10:g.48483348G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000003" }, { "coordinates": [ { "allele": "A", "end": 6116, "referenceAllele": "G", "start": 6115 } ], "hgvs": [ "NG_009820.1:g.6116G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001657" }, { "coordinates": [ { "allele": "T", "end": 38916, "referenceAllele": "C", "start": 38915 } ], "hgvs": [ "NG_033100.1:g.38916C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS005427" }, { "coordinates": [ { "allele": "A", "end": 25236, "referenceAllele": "G", "start": 25235 } ], "hgvs": [ "NG_041782.1:g.25236G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS005855" }, { "coordinates": [ { "allele": "A", "end": 6116, "referenceAllele": "G", "start": 6115 } ], "hgvs": [ "NG_009820.2:g.6116G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS616134" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 3876, "referenceAllele": "G", "start": 3875 } ], "gene": "http://reg.genome.network/gene/GN033499", "geneNCBI_id": 84126, "geneSymbol": "ATRIP", "hgvs": [ "ENST00000320211.10:c.*1391G>A" ], "proteinEffect": { "hgvs": "ENSP00000323099.3:n.*1391G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS746336", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000320211.10:c.*1391G>A" }, "RefSeq": { "hgvs": "NM_130384.3:c.*1391G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000323099.3:n.*1391G>A" }, "RefSeq": { "hgvs": "NP_569055.1:n.*1391G>A" } } } }, { "coordinates": [ { "allele": "A", "end": 226, "referenceAllele": "G", "start": 225 } ], "gene": "http://reg.genome.network/gene/GN012269", "geneNCBI_id": 11277, "geneSymbol": "TREX1", "hgvs": [ "ENST00000492235.2:c.-128G>A" ], "proteinEffect": { "hgvs": "ENSP00000494511.1:n.-128G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS757702" }, { "coordinates": [ { "allele": "A", "end": 396, "referenceAllele": "G", "start": 395 } ], "gene": "http://reg.genome.network/gene/GN012269", "geneNCBI_id": 11277, "geneSymbol": "TREX1", "hgvs": [ "ENST00000625293.3:c.290G>A" ], "proteinEffect": { "hgvs": "ENSP00000486676.2:p.Arg97His", "hgvsWellDefined": "ENSP00000486676.2:p.Arg97His" }, "referenceSequence": "http://reg.genome.network/refseq/RS762462", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000625293.3:c.290G>A" }, "RefSeq": { "hgvs": "NM_033629.6:c.290G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000486676.2:p.Arg97His" }, "RefSeq": { "hgvs": "NP_338599.1:p.Arg97His" } } } }, { "coordinates": [ { "allele": "A", "end": 2885, "referenceAllele": "G", "start": 2884 } ], "gene": "http://reg.genome.network/gene/GN033499", "geneNCBI_id": 84126, "geneSymbol": "ATRIP", "hgvs": [ "ENST00000634384.2:c.2885G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS762558" }, { "coordinates": [ { "allele": "A", "end": 259, "referenceAllele": "G", "start": 258 } ], "gene": "http://reg.genome.network/gene/GN012269", "geneNCBI_id": 11277, "geneSymbol": "TREX1", "hgvs": [ "ENST00000635452.2:c.-128G>A" ], "proteinEffect": { "hgvs": "ENSP00000492023.2:n.-128G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS762585" }, { "coordinates": [ { "allele": "A", "end": 1177, "referenceAllele": "G", "start": 1176 } ], "hgvs": [ "ENST00000296443.11:c.290G>A" ], "proteinEffect": { "hgvs": "ENSP00000296443.11:p.Arg97His", "hgvsWellDefined": "ENSP00000296443.11:p.Arg97His" }, "referenceSequence": "http://reg.genome.network/refseq/RS254300" }, { "coordinates": [ { "allele": "A", "end": 405, "referenceAllele": "G", "start": 404 } ], "gene": "http://reg.genome.network/gene/GN012269", "geneNCBI_id": 11277, "geneSymbol": "TREX1", "hgvs": [ "ENST00000433541.1:c.-128G>A" ], "proteinEffect": { "hgvs": "ENSP00000412404.1:n.-128G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS292593" }, { "coordinates": [ { "allele": "A", "end": 502, "referenceAllele": "G", "start": 501 } ], "gene": "http://reg.genome.network/gene/GN012269", "geneNCBI_id": 11277, "geneSymbol": "TREX1", "hgvs": [ "ENST00000444177.1:c.260G>A" ], "proteinEffect": { "hgvs": "ENSP00000415972.1:p.Arg87His", "hgvsWellDefined": "ENSP00000415972.1:p.Arg87His" }, "referenceSequence": "http://reg.genome.network/refseq/RS297686" }, { "coordinates": [ { "allele": "A", "end": 48, "endIntronDirection": "-", "endIntronOffset": 119, "referenceAllele": "G", "start": 48, "startIntronDirection": "-", "startIntronOffset": 120 } ], "gene": "http://reg.genome.network/gene/GN012269", "geneNCBI_id": 11277, "geneSymbol": "TREX1", "hgvs": [ "ENST00000456089.1:c.-8-120G>A" ], "proteinEffect": { "hgvs": "ENSP00000411331.1:n.-8-120G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS303332" }, { "coordinates": [ { "allele": "A", "end": 208, "referenceAllele": "G", "start": 207 } ], "gene": "http://reg.genome.network/gene/GN012269", "geneNCBI_id": 11277, "geneSymbol": "TREX1", "hgvs": [ "ENST00000492235.1:n.208G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS329659" }, { "coordinates": [ { "allele": "A", "end": 1083, "referenceAllele": "G", "start": 1082 } ], "gene": "http://reg.genome.network/gene/GN012269", "geneNCBI_id": 11277, "geneSymbol": "TREX1", "hgvs": [ "ENST00000625293.1:c.455G>A" ], "proteinEffect": { "hgvs": "ENSP00000486676.1:p.Arg152His", "hgvsWellDefined": "ENSP00000486676.1:p.Arg152His" }, "referenceSequence": "http://reg.genome.network/refseq/RS406559" }, { "coordinates": [ { "allele": "A", "end": 771, "referenceAllele": "G", "start": 770 } ], "gene": "http://reg.genome.network/gene/GN012269", "geneNCBI_id": 11277, "geneSymbol": "TREX1", "hgvs": [ "ENST00000629913.1:c.290G>A" ], "proteinEffect": { "hgvs": "ENSP00000486444.1:p.Arg97His", "hgvsWellDefined": "ENSP00000486444.1:p.Arg97His" }, "referenceSequence": "http://reg.genome.network/refseq/RS407293" }, { "coordinates": [ { "allele": "A", "end": 3346, "referenceAllele": "G", "start": 3345 } ], "hgvs": [ "ENST00000634384.1:c.*3110G>A" ], "proteinEffect": { "hgvs": "ENSP00000489041.1:n.*3110G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS407803" }, { "coordinates": [ { "allele": "A", "end": 1497, "referenceAllele": "G", "start": 1496 } ], "hgvs": [ "ENST00000635452.1:n.1497G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS408135" }, { "coordinates": [ { "allele": "A", "end": 3243, "referenceAllele": "G", "start": 3242 } ], "hgvs": [ "ENST00000635464.1:c.3243G>A" ], "proteinEffect": { "hgvs": "ENSP00000489199.1:n.3243G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS408139" }, { "@id": "http://reg.genome.network/allele/PA2829703342", "coordinates": [ { "allele": "A", "end": 928, "referenceAllele": "G", "start": 927 } ], "gene": "http://reg.genome.network/gene/GN012269", "geneNCBI_id": 11277, "geneSymbol": "TREX1", "hgvs": [ "NM_007248.3:c.260G>A" ], "proteinEffect": { "hgvs": "NP_009179.2:p.Arg87His", "hgvsWellDefined": "NP_009179.2:p.Arg87His" }, "referenceSequence": "http://reg.genome.network/refseq/RS032171" }, { "coordinates": [ { "allele": "A", "end": 1426, "referenceAllele": "G", "start": 1425 } ], "gene": "http://reg.genome.network/gene/GN012269", "geneNCBI_id": 11277, "geneSymbol": "TREX1", "hgvs": [ "NM_016381.5:c.455G>A" ], "proteinEffect": { "hgvs": "NP_057465.1:p.Arg152His", "hgvsWellDefined": "NP_057465.1:p.Arg152His" }, "referenceSequence": "http://reg.genome.network/refseq/RS034661" }, { "@id": "http://reg.genome.network/allele/PA645466103", "coordinates": [ { "allele": "A", "end": 1106, "referenceAllele": "G", "start": 1105 } ], "gene": "http://reg.genome.network/gene/GN012269", "geneNCBI_id": 11277, "geneSymbol": "TREX1", "hgvs": [ "NM_033629.4:c.290G>A" ], "proteinEffect": { "hgvs": "NP_338599.1:p.Arg97His", "hgvsWellDefined": "NP_338599.1:p.Arg97His" }, "referenceSequence": "http://reg.genome.network/refseq/RS039803" }, { "@id": "http://reg.genome.network/allele/PA2829703342", "coordinates": [ { "allele": "A", "end": 496, "referenceAllele": "G", "start": 495 } ], "gene": "http://reg.genome.network/gene/GN012269", "geneNCBI_id": 11277, "geneSymbol": "TREX1", "hgvs": [ "NM_007248.4:c.260G>A" ], "proteinEffect": { "hgvs": "NP_009179.2:p.Arg87His", "hgvsWellDefined": "NP_009179.2:p.Arg87His" }, "referenceSequence": "http://reg.genome.network/refseq/RS525471" }, { "@id": "http://reg.genome.network/allele/PA645466103", "coordinates": [ { "allele": "A", "end": 396, "referenceAllele": "G", "start": 395 } ], "gene": "http://reg.genome.network/gene/GN012269", "geneNCBI_id": 11277, "geneSymbol": "TREX1", "hgvs": [ "NM_033629.5:c.290G>A" ], "proteinEffect": { "hgvs": "NP_338599.1:p.Arg97His", "hgvsWellDefined": "NP_338599.1:p.Arg97His" }, "referenceSequence": "http://reg.genome.network/refseq/RS526405" }, { "coordinates": [ { "allele": "A", "end": 3599, "referenceAllele": "G", "start": 3598 } ], "hgvs": [ "NR_153405.1:n.3599G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531862" }, { "@id": "http://reg.genome.network/allele/PA645466103", "coordinates": [ { "allele": "A", "end": 396, "referenceAllele": "G", "start": 395 } ], "gene": "http://reg.genome.network/gene/GN012269", "geneNCBI_id": 11277, "geneSymbol": "TREX1", "hgvs": [ "NM_033629.6:c.290G>A" ], "proteinEffect": { "hgvs": "NP_338599.1:p.Arg97His", "hgvsWellDefined": "NP_338599.1:p.Arg97His" }, "referenceSequence": "http://reg.genome.network/refseq/RS671598", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000625293.3:c.290G>A" }, "RefSeq": { "hgvs": "NM_033629.6:c.290G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000486676.2:p.Arg97His" }, "RefSeq": { "hgvs": "NP_338599.1:p.Arg97His" } } } }, { "coordinates": [ { "allele": "A", "end": 3876, "referenceAllele": "G", "start": 3875 } ], "gene": "http://reg.genome.network/gene/GN033499", "geneNCBI_id": 84126, "geneSymbol": "ATRIP", "hgvs": [ "NM_130384.3:c.*1391G>A" ], "proteinEffect": { "hgvs": "NP_569055.1:n.*1391G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS671788", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000320211.10:c.*1391G>A" }, "RefSeq": { "hgvs": "NM_130384.3:c.*1391G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000323099.3:n.*1391G>A" }, "RefSeq": { "hgvs": "NP_569055.1:n.*1391G>A" } } } }, { "coordinates": [ { "allele": "A", "end": 3917, "referenceAllele": "G", "start": 3916 } ], "gene": "http://reg.genome.network/gene/GN033499", "geneNCBI_id": 84126, "geneSymbol": "ATRIP", "hgvs": [ "NM_001271023.2:c.*1391G>A" ], "proteinEffect": { "hgvs": "NP_001257952.1:n.*1391G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS681109" }, { "@id": "http://reg.genome.network/allele/PA2829703342", "coordinates": [ { "allele": "A", "end": 618, "referenceAllele": "G", "start": 617 } ], "gene": "http://reg.genome.network/gene/GN012269", "geneNCBI_id": 11277, "geneSymbol": "TREX1", "hgvs": [ "NM_007248.5:c.260G>A" ], "proteinEffect": { "hgvs": "NP_009179.2:p.Arg87His", "hgvsWellDefined": "NP_009179.2:p.Arg87His" }, "referenceSequence": "http://reg.genome.network/refseq/RS696950" }, { "coordinates": [ { "allele": "A", "end": 3795, "referenceAllele": "G", "start": 3794 } ], "gene": "http://reg.genome.network/gene/GN033499", "geneNCBI_id": 84126, "geneSymbol": "ATRIP", "hgvs": [ "NM_032166.4:c.*1391G>A" ], "proteinEffect": { "hgvs": "NP_115542.2:n.*1391G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS699046" }, { "coordinates": [ { "allele": "A", "end": 3666, "referenceAllele": "G", "start": 3665 } ], "gene": "http://reg.genome.network/gene/GN033499", "geneNCBI_id": 84126, "geneSymbol": "ATRIP", "hgvs": [ "NM_001271022.2:c.*1391G>A" ], "proteinEffect": { "hgvs": "NP_001257951.1:n.*1391G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS715230" } ], "type": "nucleotide" }