{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA411938955", "communityStandardTitle": [ "NM_018006.5(TRMU):c.28G>A (p.Ala10Thr)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr22:g.46731689G>A?assembly=hg19", "id": "chr22:g.46731689G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr22:g.46335792G>A?assembly=hg38", "id": "chr22:g.46335792G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/11090865", "rs": 11090865 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/22-46335792-G-A?dataset=gnomad_r4", "id": "22-46335792-G-A", "variant": "22:46335792 G / A" } ] }, "genomicAlleles": [ { "chromosome": "22", "coordinates": [ { "allele": "A", "end": 46335792, "referenceAllele": "G", "start": 46335791 } ], "hgvs": [ "NC_000022.11:g.46335792G>A", "CM000684.2:g.46335792G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000070" }, { "chromosome": "22", "coordinates": [ { "allele": "A", "end": 46731689, "referenceAllele": "G", "start": 46731688 } ], "hgvs": [ "NC_000022.10:g.46731689G>A", "CM000684.1:g.46731689G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000046" }, { "chromosome": "22", "coordinates": [ { "allele": "A", "end": 45110353, "referenceAllele": "G", "start": 45110352 } ], "hgvs": [ "NC_000022.9:g.45110353G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000022" }, { "coordinates": [ { "allele": "A", "end": 5392, "referenceAllele": "G", "start": 5391 } ], "hgvs": [ "NG_012173.1:g.5392G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002256" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 104, "referenceAllele": "G", "start": 103 } ], "gene": "http://reg.genome.network/gene/GN025481", "geneNCBI_id": 55687, "geneSymbol": "TRMU", "hgvs": [ "ENST00000493556.2:n.104G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS757742" }, { "coordinates": [ { "allele": "A", "end": 68, "referenceAllele": "G", "start": 67 } ], "gene": "http://reg.genome.network/gene/GN025481", "geneNCBI_id": 55687, "geneSymbol": "TRMU", "hgvs": [ "ENST00000642562.1:c.28G>A" ], "proteinEffect": { "hgvs": "ENSP00000494679.1:p.Ala10Thr", "hgvsWellDefined": "ENSP00000494679.1:p.Ala10Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS766812" }, { "coordinates": [ { "allele": "A", "end": 79, "referenceAllele": "G", "start": 78 } ], "gene": "http://reg.genome.network/gene/GN025481", "geneNCBI_id": 55687, "geneSymbol": "TRMU", "hgvs": [ "ENST00000645026.1:n.79G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS768129" }, { "coordinates": [ { "allele": "A", "end": 79, "referenceAllele": "G", "start": 78 } ], "gene": "http://reg.genome.network/gene/GN025481", "geneNCBI_id": 55687, "geneSymbol": "TRMU", "hgvs": [ "ENST00000645190.1:c.28G>A" ], "proteinEffect": { "hgvs": "ENSP00000496496.1:p.Ala10Thr", "hgvsWellDefined": "ENSP00000496496.1:p.Ala10Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS768216", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000645190.1:c.28G>A" }, "RefSeq": { "hgvs": "NM_018006.5:c.28G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000496496.1:p.Ala10Thr" }, "RefSeq": { "hgvs": "NP_060476.2:p.Ala10Thr" } } } }, { "coordinates": [ { "allele": "A", "end": 77, "referenceAllele": "G", "start": 76 } ], "gene": "http://reg.genome.network/gene/GN025481", "geneNCBI_id": 55687, "geneSymbol": "TRMU", "hgvs": [ "ENST00000647301.1:c.28G>A" ], "proteinEffect": { "hgvs": "ENSP00000496641.1:p.Ala10Thr", "hgvsWellDefined": "ENSP00000496641.1:p.Ala10Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS769338" }, { "coordinates": [ { "allele": "A", "end": 368, "referenceAllele": "G", "start": 367 } ], "gene": "http://reg.genome.network/gene/GN025481", "geneNCBI_id": 55687, "geneSymbol": "TRMU", "hgvs": [ "ENST00000290846.8:c.28G>A" ], "proteinEffect": { "hgvs": "ENSP00000290846.4:p.Ala10Thr", "hgvsWellDefined": "ENSP00000290846.4:p.Ala10Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS253685" }, { "coordinates": [ { "allele": "A", "end": 48, "referenceAllele": "G", "start": 47 } ], "gene": "http://reg.genome.network/gene/GN025481", "geneNCBI_id": 55687, "geneSymbol": "TRMU", "hgvs": [ "ENST00000381019.3:c.28G>A" ], "proteinEffect": { "hgvs": "ENSP00000370407.3:p.Ala10Thr", "hgvsWellDefined": "ENSP00000370407.3:p.Ala10Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS273183" }, { "coordinates": [ { "allele": "A", "end": 368, "referenceAllele": "G", "start": 367 } ], "gene": "http://reg.genome.network/gene/GN025481", "geneNCBI_id": 55687, "geneSymbol": "TRMU", "hgvs": [ "ENST00000381021.7:c.28G>A" ], "proteinEffect": { "hgvs": "ENSP00000370409.3:p.Ala10Thr", "hgvsWellDefined": "ENSP00000370409.3:p.Ala10Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS273185" }, { "coordinates": [ { "allele": "A", "end": 392, "referenceAllele": "G", "start": 391 } ], "gene": "http://reg.genome.network/gene/GN025481", "geneNCBI_id": 55687, "geneSymbol": "TRMU", "hgvs": [ "ENST00000441818.5:c.28G>A" ], "proteinEffect": { "hgvs": "ENSP00000393014.1:p.Ala10Thr", "hgvsWellDefined": "ENSP00000393014.1:p.Ala10Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS296581" }, { "coordinates": [ { "allele": "A", "end": 368, "referenceAllele": "G", "start": 367 } ], "gene": "http://reg.genome.network/gene/GN025481", "geneNCBI_id": 55687, "geneSymbol": "TRMU", "hgvs": [ "ENST00000453630.5:c.28G>A" ], "proteinEffect": { "hgvs": "ENSP00000398488.1:p.Ala10Thr", "hgvsWellDefined": "ENSP00000398488.1:p.Ala10Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS302199" }, { "coordinates": [ { "allele": "A", "end": 368, "referenceAllele": "G", "start": 367 } ], "gene": "http://reg.genome.network/gene/GN025481", "geneNCBI_id": 55687, "geneSymbol": "TRMU", "hgvs": [ "ENST00000456595.5:c.28G>A" ], "proteinEffect": { "hgvs": "ENSP00000413880.1:p.Ala10Thr", "hgvsWellDefined": "ENSP00000413880.1:p.Ala10Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS303565" }, { "coordinates": [ { "allele": "A", "end": 368, "referenceAllele": "G", "start": 367 } ], "gene": "http://reg.genome.network/gene/GN025481", "geneNCBI_id": 55687, "geneSymbol": "TRMU", "hgvs": [ "ENST00000457572.5:c.28G>A" ], "proteinEffect": { "hgvs": "ENSP00000407700.1:p.Ala10Thr", "hgvsWellDefined": "ENSP00000407700.1:p.Ala10Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS304012" }, { "coordinates": [ { "allele": "A", "end": 286, "endIntronDirection": "-", "endIntronOffset": 1986, "referenceAllele": "G", "start": 286, "startIntronDirection": "-", "startIntronOffset": 1987 } ], "gene": "http://reg.genome.network/gene/GN025481", "geneNCBI_id": 55687, "geneSymbol": "TRMU", "hgvs": [ "ENST00000486620.5:n.287-1987G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS325383" }, { "coordinates": [ { "allele": "A", "end": 392, "referenceAllele": "G", "start": 391 } ], "gene": "http://reg.genome.network/gene/GN025481", "geneNCBI_id": 55687, "geneSymbol": "TRMU", "hgvs": [ "NM_001282782.1:c.-208G>A" ], "proteinEffect": { "hgvs": "NP_001269711.1:n.-208G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS022252" }, { "coordinates": [ { "allele": "A", "end": 392, "referenceAllele": "G", "start": 391 } ], "gene": "http://reg.genome.network/gene/GN025481", "geneNCBI_id": 55687, "geneSymbol": "TRMU", "hgvs": [ "NM_001282783.1:c.-227G>A" ], "proteinEffect": { "hgvs": "NP_001269712.1:n.-227G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS022253" }, { "coordinates": [ { "allele": "A", "end": 392, "referenceAllele": "G", "start": 391 } ], "gene": "http://reg.genome.network/gene/GN025481", "geneNCBI_id": 55687, "geneSymbol": "TRMU", "hgvs": [ "NM_001282784.1:c.-227G>A" ], "proteinEffect": { "hgvs": "NP_001269713.1:n.-227G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS022254" }, { "coordinates": [ { "allele": "A", "end": 392, "referenceAllele": "G", "start": 391 } ], "gene": "http://reg.genome.network/gene/GN025481", "geneNCBI_id": 55687, "geneSymbol": "TRMU", "hgvs": [ "NM_001282785.1:c.28G>A" ], "proteinEffect": { "hgvs": "NP_001269714.1:p.Ala10Thr", "hgvsWellDefined": "NP_001269714.1:p.Ala10Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS022255" }, { "@id": "http://reg.genome.network/allele/PA3088575363", "coordinates": [ { "allele": "A", "end": 392, "referenceAllele": "G", "start": 391 } ], "gene": "http://reg.genome.network/gene/GN025481", "geneNCBI_id": 55687, "geneSymbol": "TRMU", "hgvs": [ "NM_018006.4:c.28G>A" ], "proteinEffect": { "hgvs": "NP_060476.2:p.Ala10Thr", "hgvsWellDefined": "NP_060476.2:p.Ala10Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS035366" }, { "coordinates": [ { "allele": "A", "end": 392, "referenceAllele": "G", "start": 391 } ], "gene": "http://reg.genome.network/gene/GN025481", "geneNCBI_id": 55687, "geneSymbol": "TRMU", "hgvs": [ "NR_104240.1:n.392G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS053330" }, { "coordinates": [ { "allele": "A", "end": 392, "referenceAllele": "G", "start": 391 } ], "gene": "http://reg.genome.network/gene/GN025481", "geneNCBI_id": 55687, "geneSymbol": "TRMU", "hgvs": [ "NR_104241.1:n.392G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS053331" }, { "coordinates": [ { "allele": "A", "end": 79, "referenceAllele": "G", "start": 78 } ], "gene": "http://reg.genome.network/gene/GN025481", "geneNCBI_id": 55687, "geneSymbol": "TRMU", "hgvs": [ "XM_005261678.1:c.-310G>A" ], "proteinEffect": { "hgvs": "XP_005261735.1:n.-310G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS063185" }, { "coordinates": [ { "allele": "A", "end": 79, "referenceAllele": "G", "start": 78 } ], "gene": "http://reg.genome.network/gene/GN025481", "geneNCBI_id": 55687, "geneSymbol": "TRMU", "hgvs": [ "XM_005261681.1:c.-310G>A" ], "proteinEffect": { "hgvs": "XP_005261738.1:n.-310G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS063186" }, { "coordinates": [ { "allele": "A", "end": 79, "referenceAllele": "G", "start": 78 } ], "gene": "http://reg.genome.network/gene/GN025481", "geneNCBI_id": 55687, "geneSymbol": "TRMU", "hgvs": [ "XM_011530272.1:c.28G>A" ], "proteinEffect": { "hgvs": "XP_011528574.1:p.Ala10Thr", "hgvsWellDefined": "XP_011528574.1:p.Ala10Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS097330" }, { "coordinates": [ { "allele": "A", "end": 79, "referenceAllele": "G", "start": 78 } ], "gene": "http://reg.genome.network/gene/GN025481", "geneNCBI_id": 55687, "geneSymbol": "TRMU", "hgvs": [ "XM_011530273.1:c.28G>A" ], "proteinEffect": { "hgvs": "XP_011528575.1:p.Ala10Thr", "hgvsWellDefined": "XP_011528575.1:p.Ala10Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS097331" }, { "coordinates": [ { "allele": "A", "end": 74, "referenceAllele": "G", "start": 73 } ], "gene": "http://reg.genome.network/gene/GN025481", "geneNCBI_id": 55687, "geneSymbol": "TRMU", "hgvs": [ "XM_011530272.2:c.28G>A" ], "proteinEffect": { "hgvs": "XP_011528574.1:p.Ala10Thr", "hgvsWellDefined": "XP_011528574.1:p.Ala10Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS549898" }, { "coordinates": [ { "allele": "A", "end": 74, "referenceAllele": "G", "start": 73 } ], "gene": "http://reg.genome.network/gene/GN025481", "geneNCBI_id": 55687, "geneSymbol": "TRMU", "hgvs": [ "XM_011530273.2:c.28G>A" ], "proteinEffect": { "hgvs": "XP_011528575.1:p.Ala10Thr", "hgvsWellDefined": "XP_011528575.1:p.Ala10Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS549899" }, { "coordinates": [ { "allele": "A", "end": 74, "referenceAllele": "G", "start": 73 } ], "gene": "http://reg.genome.network/gene/GN025481", "geneNCBI_id": 55687, "geneSymbol": "TRMU", "hgvs": [ "XR_001755261.2:n.74G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS601081" }, { "coordinates": [ { "allele": "A", "end": 74, "referenceAllele": "G", "start": 73 } ], "gene": "http://reg.genome.network/gene/GN025481", "geneNCBI_id": 55687, "geneSymbol": "TRMU", "hgvs": [ "XR_001755262.2:n.74G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS601082" }, { "@id": "http://reg.genome.network/allele/PA3088575363", "coordinates": [ { "allele": "A", "end": 79, "referenceAllele": "G", "start": 78 } ], "gene": "http://reg.genome.network/gene/GN025481", "geneNCBI_id": 55687, "geneSymbol": "TRMU", "hgvs": [ "NM_018006.5:c.28G>A" ], "proteinEffect": { "hgvs": "NP_060476.2:p.Ala10Thr", "hgvsWellDefined": "NP_060476.2:p.Ala10Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS669463", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000645190.1:c.28G>A" }, "RefSeq": { "hgvs": "NM_018006.5:c.28G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000496496.1:p.Ala10Thr" }, "RefSeq": { "hgvs": "NP_060476.2:p.Ala10Thr" } } } }, { "coordinates": [ { "allele": "A", "end": 79, "referenceAllele": "G", "start": 78 } ], "gene": "http://reg.genome.network/gene/GN025481", "geneNCBI_id": 55687, "geneSymbol": "TRMU", "hgvs": [ "NM_001282782.2:c.-208G>A" ], "proteinEffect": { "hgvs": "NP_001269711.1:n.-208G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS681902" }, { "coordinates": [ { "allele": "A", "end": 79, "referenceAllele": "G", "start": 78 } ], "gene": "http://reg.genome.network/gene/GN025481", "geneNCBI_id": 55687, "geneSymbol": "TRMU", "hgvs": [ "NM_001282783.2:c.-227G>A" ], "proteinEffect": { "hgvs": "NP_001269712.1:n.-227G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS681903" }, { "coordinates": [ { "allele": "A", "end": 79, "referenceAllele": "G", "start": 78 } ], "gene": "http://reg.genome.network/gene/GN025481", "geneNCBI_id": 55687, "geneSymbol": "TRMU", "hgvs": [ "NM_001282784.2:c.-227G>A" ], "proteinEffect": { "hgvs": "NP_001269713.1:n.-227G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS681904" }, { "coordinates": [ { "allele": "A", "end": 79, "referenceAllele": "G", "start": 78 } ], "gene": "http://reg.genome.network/gene/GN025481", "geneNCBI_id": 55687, "geneSymbol": "TRMU", "hgvs": [ "NM_001282785.2:c.28G>A" ], "proteinEffect": { "hgvs": "NP_001269714.1:p.Ala10Thr", "hgvsWellDefined": "NP_001269714.1:p.Ala10Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS681905" }, { "coordinates": [ { "allele": "A", "end": 79, "referenceAllele": "G", "start": 78 } ], "gene": "http://reg.genome.network/gene/GN025481", "geneNCBI_id": 55687, "geneSymbol": "TRMU", "hgvs": [ "NR_104240.2:n.79G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS702962" }, { "coordinates": [ { "allele": "A", "end": 79, "referenceAllele": "G", "start": 78 } ], "gene": "http://reg.genome.network/gene/GN025481", "geneNCBI_id": 55687, "geneSymbol": "TRMU", "hgvs": [ "NR_104241.2:n.79G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS702963" } ], "type": "nucleotide" }