{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA373530919", "communityStandardTitle": [ "NM_000144.5(FXN):c.467T>A (p.Leu156Gln)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.71679936T>A?assembly=hg19", "id": "chr9:g.71679936T>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.69065020T>A?assembly=hg38", "id": "chr9:g.69065020T>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/143340609", "rs": 143340609 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-69065020-T-A?dataset=gnomad_r4", "id": "9-69065020-T-A", "variant": "9:69065020 T / A" } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 69065020, "referenceAllele": "T", "start": 69065019 } ], "hgvs": [ "NC_000009.12:g.69065020T>A", "CM000671.2:g.69065020T>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 71679936, "referenceAllele": "T", "start": 71679935 } ], "hgvs": [ "NC_000009.11:g.71679936T>A", "CM000671.1:g.71679936T>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 70869756, "referenceAllele": "T", "start": 70869755 } ], "hgvs": [ "NC_000009.10:g.70869756T>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "A", "end": 34458, "referenceAllele": "T", "start": 34457 } ], "hgvs": [ "NG_008845.2:g.34458T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001240" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 558, "referenceAllele": "T", "start": 557 } ], "gene": "http://reg.genome.network/gene/GN003951", "geneNCBI_id": 2395, "geneSymbol": "FXN", "hgvs": [ "ENST00000377270.8:c.242T>A" ], "proteinEffect": { "hgvs": "ENSP00000366482.4:p.Leu81Gln", "hgvsWellDefined": "ENSP00000366482.4:p.Leu81Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS751893" }, { "coordinates": [ { "allele": "A", "end": 498, "referenceAllele": "T", "start": 497 } ], "gene": "http://reg.genome.network/gene/GN003951", "geneNCBI_id": 2395, "geneSymbol": "FXN", "hgvs": [ "ENST00000484259.3:c.467T>A" ], "proteinEffect": { "hgvs": "ENSP00000419243.2:p.Leu156Gln", "hgvsWellDefined": "ENSP00000419243.2:p.Leu156Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS757462", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000484259.3:c.467T>A" }, "RefSeq": { "hgvs": "NM_000144.5:c.467T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000419243.2:p.Leu156Gln" }, "RefSeq": { "hgvs": "NP_000135.2:p.Leu156Gln" } } } }, { "coordinates": [ { "allele": "A", "end": 420, "endIntronDirection": "+", "endIntronOffset": 11760, "referenceAllele": "T", "start": 420, "startIntronDirection": "+", "startIntronOffset": 11759 } ], "hgvs": [ "ENST00000642330.1:c.384+11760T>A" ], "proteinEffect": { "hgvs": "ENSP00000493770.1:n.384+11760T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS766682" }, { "coordinates": [ { "allele": "A", "end": 198, "endIntronDirection": "+", "endIntronOffset": 29073, "referenceAllele": "T", "start": 198, "startIntronDirection": "+", "startIntronOffset": 29072 } ], "hgvs": [ "ENST00000642889.1:c.165+29073T>A" ], "proteinEffect": { "hgvs": "ENSP00000493780.1:n.165+29073T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS766972" }, { "coordinates": [ { "allele": "A", "end": 500, "referenceAllele": "T", "start": 499 } ], "hgvs": [ "ENST00000643352.1:c.467T>A" ], "proteinEffect": { "hgvs": "ENSP00000496488.1:p.Leu156Gln", "hgvsWellDefined": "ENSP00000496488.1:p.Leu156Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS767235" }, { "coordinates": [ { "allele": "A", "end": 465, "referenceAllele": "T", "start": 464 } ], "hgvs": [ "ENST00000643765.1:c.465T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS767457" }, { "coordinates": [ { "allele": "A", "end": 378, "referenceAllele": "T", "start": 377 } ], "gene": "http://reg.genome.network/gene/GN003951", "geneNCBI_id": 2395, "geneSymbol": "FXN", "hgvs": [ "ENST00000644653.1:c.*70T>A" ], "proteinEffect": { "hgvs": "ENSP00000495217.1:n.*70T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS767923" }, { "coordinates": [ { "allele": "A", "end": 371, "referenceAllele": "T", "start": 370 } ], "hgvs": [ "ENST00000644977.1:c.*192T>A" ], "proteinEffect": { "hgvs": "ENSP00000495651.1:n.*192T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS768103" }, { "coordinates": [ { "allele": "A", "end": 379, "referenceAllele": "T", "start": 378 } ], "hgvs": [ "ENST00000645088.1:c.*70T>A" ], "proteinEffect": { "hgvs": "ENSP00000495447.1:n.*70T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS768165" }, { "coordinates": [ { "allele": "A", "end": 398, "endIntronDirection": "+", "endIntronOffset": 11760, "referenceAllele": "T", "start": 398, "startIntronDirection": "+", "startIntronOffset": 11759 } ], "hgvs": [ "ENST00000646862.1:c.384+11760T>A" ], "proteinEffect": { "hgvs": "ENSP00000494599.1:n.384+11760T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS769105" }, { "coordinates": [ { "allele": "A", "end": 991, "referenceAllele": "T", "start": 990 } ], "gene": "http://reg.genome.network/gene/GN003951", "geneNCBI_id": 2395, "geneSymbol": "FXN", "hgvs": [ "ENST00000377270.7:c.467T>A" ], "proteinEffect": { "hgvs": "ENSP00000366482.3:p.Leu156Gln", "hgvsWellDefined": "ENSP00000366482.3:p.Leu156Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS271536" }, { "coordinates": [ { "allele": "A", "end": 687, "referenceAllele": "T", "start": 686 } ], "gene": "http://reg.genome.network/gene/GN003951", "geneNCBI_id": 2395, "geneSymbol": "FXN", "hgvs": [ "ENST00000396364.7:c.467T>A" ], "proteinEffect": { "hgvs": "ENSP00000379650.3:p.Leu156Gln", "hgvsWellDefined": "ENSP00000379650.3:p.Leu156Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS277235" }, { "coordinates": [ { "allele": "A", "end": 488, "referenceAllele": "T", "start": 487 } ], "gene": "http://reg.genome.network/gene/GN003951", "geneNCBI_id": 2395, "geneSymbol": "FXN", "hgvs": [ "ENST00000396366.6:c.467T>A" ], "proteinEffect": { "hgvs": "ENSP00000379652.2:p.Leu156Gln", "hgvsWellDefined": "ENSP00000379652.2:p.Leu156Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS277237" }, { "coordinates": [ { "allele": "A", "end": 159, "referenceAllele": "T", "start": 158 } ], "gene": "http://reg.genome.network/gene/GN003951", "geneNCBI_id": 2395, "geneSymbol": "FXN", "hgvs": [ "ENST00000484259.1:c.159T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS323549" }, { "coordinates": [ { "allele": "A", "end": 347, "referenceAllele": "T", "start": 346 } ], "gene": "http://reg.genome.network/gene/GN003951", "geneNCBI_id": 2395, "geneSymbol": "FXN", "hgvs": [ "ENST00000498653.5:c.242T>A" ], "proteinEffect": { "hgvs": "ENSP00000418015.1:p.Leu81Gln", "hgvsWellDefined": "ENSP00000418015.1:p.Leu81Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS334614" }, { "@id": "http://reg.genome.network/allele/PA3075638193", "coordinates": [ { "allele": "A", "end": 687, "referenceAllele": "T", "start": 686 } ], "gene": "http://reg.genome.network/gene/GN003951", "geneNCBI_id": 2395, "geneSymbol": "FXN", "hgvs": [ "NM_000144.4:c.467T>A" ], "proteinEffect": { "hgvs": "NP_000135.2:p.Leu156Gln", "hgvsWellDefined": "NP_000135.2:p.Leu156Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS006206" }, { "coordinates": [ { "allele": "A", "end": 687, "referenceAllele": "T", "start": 686 } ], "gene": "http://reg.genome.network/gene/GN003951", "geneNCBI_id": 2395, "geneSymbol": "FXN", "hgvs": [ "NM_001161706.1:c.467T>A" ], "proteinEffect": { "hgvs": "NP_001155178.1:p.Leu156Gln", "hgvsWellDefined": "NP_001155178.1:p.Leu156Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS014292" }, { "coordinates": [ { "allele": "A", "end": 687, "referenceAllele": "T", "start": 686 } ], "gene": "http://reg.genome.network/gene/GN003951", "geneNCBI_id": 2395, "geneSymbol": "FXN", "hgvs": [ "NM_181425.2:c.467T>A" ], "proteinEffect": { "hgvs": "NP_852090.1:p.Leu156Gln", "hgvsWellDefined": "NP_852090.1:p.Leu156Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS043699" }, { "@id": "http://reg.genome.network/allele/PA3075638193", "coordinates": [ { "allele": "A", "end": 498, "referenceAllele": "T", "start": 497 } ], "gene": "http://reg.genome.network/gene/GN003951", "geneNCBI_id": 2395, "geneSymbol": "FXN", "hgvs": [ "NM_000144.5:c.467T>A" ], "proteinEffect": { "hgvs": "NP_000135.2:p.Leu156Gln", "hgvsWellDefined": "NP_000135.2:p.Leu156Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS662326", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000484259.3:c.467T>A" }, "RefSeq": { "hgvs": "NM_000144.5:c.467T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000419243.2:p.Leu156Gln" }, "RefSeq": { "hgvs": "NP_000135.2:p.Leu156Gln" } } } }, { "coordinates": [ { "allele": "A", "end": 498, "referenceAllele": "T", "start": 497 } ], "gene": "http://reg.genome.network/gene/GN003951", "geneNCBI_id": 2395, "geneSymbol": "FXN", "hgvs": [ "NM_181425.3:c.467T>A" ], "proteinEffect": { "hgvs": "NP_852090.1:p.Leu156Gln", "hgvsWellDefined": "NP_852090.1:p.Leu156Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS700941" } ], "type": "nucleotide" }