{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA10604744", "communityStandardTitle": [ "NM_153704.6(TMEM67):c.370G>A (p.Glu124Lys)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=268514[alleleid]", "alleleId": 268514, "preferredName": "NM_153704.6(TMEM67):c.370G>A (p.Glu124Lys)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/284277", "RCV": [ "RCV000373992", "RCV000622377", "RCV001859598" ], "variationId": 284277 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.94770768G>A?assembly=hg19", "id": "chr8:g.94770768G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.93758540G>A?assembly=hg38", "id": "chr8:g.93758540G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/375824494", "rs": 375824494 } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/8-93758540-G-A?dataset=gnomad_r3", "id": "8-93758540-G-A", "variant": "8:93758540 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/8-93758540-G-A?dataset=gnomad_r4", "id": "8-93758540-G-A", "variant": "8:93758540 G / A" } ] }, "genomicAlleles": [ { "chromosome": "8", "coordinates": [ { "allele": "A", "end": 93758540, "referenceAllele": "G", "start": 93758539 } ], "hgvs": [ "NC_000008.11:g.93758540G>A", "CM000670.2:g.93758540G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000056" }, { "chromosome": "8", "coordinates": [ { "allele": "A", "end": 94770768, "referenceAllele": "G", "start": 94770767 } ], "hgvs": [ "NC_000008.10:g.94770768G>A", "CM000670.1:g.94770768G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000032" }, { "chromosome": "8", "coordinates": [ { "allele": "A", "end": 94839944, "referenceAllele": "G", "start": 94839943 } ], "hgvs": [ "NC_000008.9:g.94839944G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000008" }, { "coordinates": [ { "allele": "A", "end": 8697, "referenceAllele": "G", "start": 8696 } ], "hgvs": [ "NG_009190.1:g.8697G>A", "LRG_688:g.8697G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001468" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 370, "referenceAllele": "G", "start": 369 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000323130.8:c.370G>A" ], "proteinEffect": { "hgvs": "ENSP00000314488.4:p.Glu124Lys", "hgvsWellDefined": "ENSP00000314488.4:p.Glu124Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS823873" }, { "coordinates": [ { "allele": "A", "end": 386, "referenceAllele": "G", "start": 385 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000409623.8:c.370G>A" ], "proteinEffect": { "hgvs": "ENSP00000386966.4:p.Glu124Lys", "hgvsWellDefined": "ENSP00000386966.4:p.Glu124Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS824612" }, { "coordinates": [ { "allele": "A", "end": 370, "referenceAllele": "G", "start": 369 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000452276.6:c.370G>A" ], "proteinEffect": { "hgvs": "ENSP00000388671.2:p.Glu124Lys", "hgvsWellDefined": "ENSP00000388671.2:p.Glu124Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS825032" }, { "coordinates": [ { "allele": "A", "end": 391, "referenceAllele": "G", "start": 390 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000453906.6:c.370G>A" ], "proteinEffect": { "hgvs": "ENSP00000403035.2:p.Glu124Lys", "hgvsWellDefined": "ENSP00000403035.2:p.Glu124Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS825047" }, { "coordinates": [ { "allele": "A", "end": 375, "referenceAllele": "G", "start": 374 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000520680.2:c.370G>A" ], "proteinEffect": { "hgvs": "ENSP00000428785.2:p.Glu124Lys", "hgvsWellDefined": "ENSP00000428785.2:p.Glu124Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS825660" }, { "coordinates": [ { "allele": "A", "end": 391, "referenceAllele": "G", "start": 390 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000521065.2:c.370G>A" ], "proteinEffect": { "hgvs": "ENSP00000427947.2:p.Glu124Lys", "hgvsWellDefined": "ENSP00000427947.2:p.Glu124Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS825666" }, { "coordinates": [ { "allele": "A", "end": 370, "referenceAllele": "G", "start": 369 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000521517.6:c.370G>A" ], "proteinEffect": { "hgvs": "ENSP00000430740.2:p.Glu124Lys", "hgvsWellDefined": "ENSP00000430740.2:p.Glu124Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS825670" }, { "coordinates": [ { "allele": "A", "end": 370, "referenceAllele": "G", "start": 369 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000681998.1:c.370G>A" ], "proteinEffect": { "hgvs": "ENSP00000506773.1:p.Glu124Lys", "hgvsWellDefined": "ENSP00000506773.1:p.Glu124Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS826997" }, { "coordinates": [ { "allele": "A", "end": 391, "referenceAllele": "G", "start": 390 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000682036.1:c.370G>A" ], "proteinEffect": { "hgvs": "ENSP00000508390.1:p.Glu124Lys", "hgvsWellDefined": "ENSP00000508390.1:p.Glu124Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS827034" }, { "coordinates": [ { "allele": "A", "end": 370, "referenceAllele": "G", "start": 369 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000682577.1:c.370G>A" ], "proteinEffect": { "hgvs": "ENSP00000506963.1:p.Glu124Lys", "hgvsWellDefined": "ENSP00000506963.1:p.Glu124Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS827567" }, { "coordinates": [ { "allele": "A", "end": 302, "referenceAllele": "G", "start": 301 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000682624.1:c.*14G>A" ], "proteinEffect": { "hgvs": "ENSP00000508343.1:n.*14G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS827613" }, { "coordinates": [ { "allele": "A", "end": 370, "referenceAllele": "G", "start": 369 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000682700.1:c.370G>A" ], "proteinEffect": { "hgvs": "ENSP00000507627.1:p.Glu124Lys", "hgvsWellDefined": "ENSP00000507627.1:p.Glu124Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS827689" }, { "coordinates": [ { "allele": "A", "end": 263, "referenceAllele": "G", "start": 262 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000682804.1:n.263G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827793" }, { "coordinates": [ { "allele": "A", "end": 370, "referenceAllele": "G", "start": 369 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000682837.1:c.370G>A" ], "proteinEffect": { "hgvs": "ENSP00000507920.1:p.Glu124Lys", "hgvsWellDefined": "ENSP00000507920.1:p.Glu124Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS827825" }, { "coordinates": [ { "allele": "A", "end": 370, "referenceAllele": "G", "start": 369 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000682935.1:n.370G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827923" }, { "coordinates": [ { "allele": "A", "end": 333, "endIntronDirection": "+", "endIntronOffset": 2674, "referenceAllele": "G", "start": 333, "startIntronDirection": "+", "startIntronOffset": 2673 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000682984.1:c.312+2674G>A" ], "proteinEffect": { "hgvs": "ENSP00000507209.1:n.312+2674G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS827971" }, { "coordinates": [ { "allele": "A", "end": 370, "referenceAllele": "G", "start": 369 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000683078.1:c.370G>A" ], "proteinEffect": { "hgvs": "ENSP00000506796.1:p.Glu124Lys", "hgvsWellDefined": "ENSP00000506796.1:p.Glu124Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS828063" }, { "coordinates": [ { "allele": "A", "end": 281, "referenceAllele": "G", "start": 280 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000683223.1:c.281G>A" ], "proteinEffect": { "hgvs": "ENSP00000507685.1:n.281G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS828205" }, { "coordinates": [ { "allele": "A", "end": 191, "referenceAllele": "G", "start": 190 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000683238.1:n.191G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828220" }, { "coordinates": [ { "allele": "A", "end": 391, "referenceAllele": "G", "start": 390 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000683249.1:n.391G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828231" }, { "coordinates": [ { "allele": "A", "end": 370, "referenceAllele": "G", "start": 369 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000683336.1:c.370G>A" ], "proteinEffect": { "hgvs": "ENSP00000507695.1:p.Glu124Lys", "hgvsWellDefined": "ENSP00000507695.1:p.Glu124Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS828317" }, { "coordinates": [ { "allele": "A", "end": 333, "endIntronDirection": "+", "endIntronOffset": 2674, "referenceAllele": "G", "start": 333, "startIntronDirection": "+", "startIntronOffset": 2673 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000683362.1:c.312+2674G>A" ], "proteinEffect": { "hgvs": "ENSP00000506985.1:n.312+2674G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS828342" }, { "coordinates": [ { "allele": "A", "end": 293, "referenceAllele": "G", "start": 292 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000683850.1:n.293G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828817" }, { "coordinates": [ { "allele": "A", "end": 370, "referenceAllele": "G", "start": 369 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000683919.1:c.370G>A" ], "proteinEffect": { "hgvs": "ENSP00000507617.1:p.Glu124Lys", "hgvsWellDefined": "ENSP00000507617.1:p.Glu124Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS828885" }, { "coordinates": [ { "allele": "A", "end": 281, "referenceAllele": "G", "start": 280 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000683953.1:c.281G>A" ], "proteinEffect": { "hgvs": "ENSP00000508375.1:n.281G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS828916" }, { "coordinates": [ { "allele": "A", "end": 370, "referenceAllele": "G", "start": 369 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000684023.1:c.370G>A" ], "proteinEffect": { "hgvs": "ENSP00000507461.1:p.Glu124Lys", "hgvsWellDefined": "ENSP00000507461.1:p.Glu124Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS828984" }, { "coordinates": [ { "allele": "A", "end": 331, "referenceAllele": "G", "start": 330 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000684064.1:c.61G>A" ], "proteinEffect": { "hgvs": "ENSP00000508192.1:p.Glu21Lys", "hgvsWellDefined": "ENSP00000508192.1:p.Glu21Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS829023" }, { "coordinates": [ { "allele": "A", "end": 360, "referenceAllele": "G", "start": 359 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000684089.1:n.360G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829048" }, { "coordinates": [ { "allele": "A", "end": 391, "referenceAllele": "G", "start": 390 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000684149.1:c.370G>A" ], "proteinEffect": { "hgvs": "ENSP00000507943.1:p.Glu124Lys", "hgvsWellDefined": "ENSP00000507943.1:p.Glu124Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS829107" }, { "coordinates": [ { "allele": "A", "end": 195, "referenceAllele": "G", "start": 194 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000684416.1:n.195G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829371" }, { "coordinates": [ { "allele": "A", "end": 370, "referenceAllele": "G", "start": 369 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000684540.1:c.370G>A" ], "proteinEffect": { "hgvs": "ENSP00000507987.1:p.Glu124Lys", "hgvsWellDefined": "ENSP00000507987.1:p.Glu124Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS829493" }, { "coordinates": [ { "allele": "A", "end": 305, "referenceAllele": "G", "start": 304 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000684733.1:n.305G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829684" }, { "coordinates": [ { "allele": "A", "end": 391, "referenceAllele": "G", "start": 390 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000453321.8:c.370G>A" ], "proteinEffect": { "hgvs": "ENSP00000389998.3:p.Glu124Lys", "hgvsWellDefined": "ENSP00000389998.3:p.Glu124Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS756420", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000453321.8:c.370G>A" }, "RefSeq": { "hgvs": "NM_153704.6:c.370G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389998.3:p.Glu124Lys" }, "RefSeq": { "hgvs": "NP_714915.3:p.Glu124Lys" } } } }, { "coordinates": [ { "allele": "A", "end": 358, "referenceAllele": "G", "start": 357 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000323130.7:c.340G>A" ], "proteinEffect": { "hgvs": "ENSP00000314488.3:p.Glu114Lys", "hgvsWellDefined": "ENSP00000314488.3:p.Glu114Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS258176" }, { "coordinates": [ { "allele": "A", "end": 195, "referenceAllele": "G", "start": 194 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000409623.7:c.-8G>A" ], "proteinEffect": { "hgvs": "ENSP00000386966.3:n.-8G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS281708" }, { "coordinates": [ { "allele": "A", "end": 331, "referenceAllele": "G", "start": 330 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000452276.5:c.61G>A" ], "proteinEffect": { "hgvs": "ENSP00000388671.1:p.Glu21Lys", "hgvsWellDefined": "ENSP00000388671.1:p.Glu21Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS301555" }, { "coordinates": [ { "allele": "A", "end": 428, "referenceAllele": "G", "start": 427 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000453321.7:c.370G>A" ], "proteinEffect": { "hgvs": "ENSP00000389998.3:p.Glu124Lys", "hgvsWellDefined": "ENSP00000389998.3:p.Glu124Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS302051" }, { "coordinates": [ { "allele": "A", "end": 390, "referenceAllele": "G", "start": 389 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000453906.5:c.370G>A" ], "proteinEffect": { "hgvs": "ENSP00000403035.1:p.Glu124Lys", "hgvsWellDefined": "ENSP00000403035.1:p.Glu124Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS302328" }, { "coordinates": [ { "allele": "A", "end": 376, "referenceAllele": "G", "start": 375 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000455946.5:c.370G>A" ], "proteinEffect": { "hgvs": "ENSP00000416339.1:p.Glu124Lys", "hgvsWellDefined": "ENSP00000416339.1:p.Glu124Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS303272" }, { "coordinates": [ { "allele": "A", "end": 390, "referenceAllele": "G", "start": 389 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000474944.5:n.390G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS316339" }, { "coordinates": [ { "allele": "A", "end": 379, "referenceAllele": "G", "start": 378 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000475305.1:n.379G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS316616" }, { "coordinates": [ { "allele": "A", "end": 352, "referenceAllele": "G", "start": 351 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000498673.5:c.-111G>A" ], "proteinEffect": { "hgvs": "ENSP00000430232.1:n.-111G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS334628" }, { "coordinates": [ { "allele": "A", "end": 306, "referenceAllele": "G", "start": 305 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000518319.5:c.-150G>A" ], "proteinEffect": { "hgvs": "ENSP00000430289.1:n.-150G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS345807" }, { "coordinates": [ { "allele": "A", "end": 276, "referenceAllele": "G", "start": 275 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000521065.1:c.276G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS347975" }, { "coordinates": [ { "allele": "A", "end": 375, "referenceAllele": "G", "start": 374 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000521222.5:c.*6G>A" ], "proteinEffect": { "hgvs": "ENSP00000429925.1:n.*6G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS348086" }, { "coordinates": [ { "allele": "A", "end": 362, "referenceAllele": "G", "start": 361 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000521517.5:c.362G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS348314" }, { "coordinates": [ { "allele": "A", "end": 238, "referenceAllele": "G", "start": 237 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "NM_001142301.1:c.-8G>A", "LRG_688t2:c.-8G>A" ], "proteinEffect": { "hgvs": "NP_001135773.1:n.-8G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS012819" }, { "@id": "http://reg.genome.network/allele/PA645452742", "coordinates": [ { "allele": "A", "end": 441, "referenceAllele": "G", "start": 440 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "NM_153704.5:c.370G>A", "LRG_688t1:c.370G>A" ], "proteinEffect": { "hgvs": "NP_714915.3:p.Glu124Lys", "hgvsWellDefined": "NP_714915.3:p.Glu124Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS042476" }, { "coordinates": [ { "allele": "A", "end": 441, "referenceAllele": "G", "start": 440 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "NR_024522.1:n.441G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS047028" }, { "coordinates": [ { "allele": "A", "end": 276, "referenceAllele": "G", "start": 275 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "XM_006716686.2:c.67G>A" ], "proteinEffect": { "hgvs": "XP_006716749.1:p.Glu23Lys", "hgvsWellDefined": "XP_006716749.1:p.Glu23Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS071794" }, { "coordinates": [ { "allele": "A", "end": 413, "referenceAllele": "G", "start": 412 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "XM_011517363.1:c.370G>A" ], "proteinEffect": { "hgvs": "XP_011515665.1:p.Glu124Lys", "hgvsWellDefined": "XP_011515665.1:p.Glu124Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS084561" }, { "coordinates": [ { "allele": "A", "end": 428, "referenceAllele": "G", "start": 427 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "XR_428387.1:n.428G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS118043" }, { "coordinates": [ { "allele": "A", "end": 428, "referenceAllele": "G", "start": 427 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "XR_928360.1:n.428G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS124765" }, { "coordinates": [ { "allele": "A", "end": 428, "referenceAllele": "G", "start": 427 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "XR_928361.1:n.428G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS124766" }, { "coordinates": [ { "allele": "A", "end": 428, "referenceAllele": "G", "start": 427 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "XR_928362.1:n.428G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS124767" }, { "coordinates": [ { "allele": "A", "end": 279, "referenceAllele": "G", "start": 278 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "XM_006716686.4:c.67G>A" ], "proteinEffect": { "hgvs": "XP_006716749.1:p.Glu23Lys", "hgvsWellDefined": "XP_006716749.1:p.Glu23Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS539225" }, { "coordinates": [ { "allele": "A", "end": 385, "referenceAllele": "G", "start": 384 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "XM_011517363.3:c.370G>A" ], "proteinEffect": { "hgvs": "XP_011515665.1:p.Glu124Lys", "hgvsWellDefined": "XP_011515665.1:p.Glu124Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS544527" }, { "coordinates": [ { "allele": "A", "end": 372, "referenceAllele": "G", "start": 371 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "XM_024447326.1:c.-40G>A" ], "proteinEffect": { "hgvs": "XP_024303094.1:n.-40G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS580912" }, { "coordinates": [ { "allele": "A", "end": 411, "referenceAllele": "G", "start": 410 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "XR_001745619.2:n.411G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS594108" }, { "coordinates": [ { "allele": "A", "end": 411, "referenceAllele": "G", "start": 410 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "XR_428387.2:n.411G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS606547" }, { "coordinates": [ { "allele": "A", "end": 411, "referenceAllele": "G", "start": 410 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "XR_928360.3:n.411G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS608841" }, { "coordinates": [ { "allele": "A", "end": 411, "referenceAllele": "G", "start": 410 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "XR_928362.3:n.411G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS608842" }, { "@id": "http://reg.genome.network/allele/PA645452742", "coordinates": [ { "allele": "A", "end": 391, "referenceAllele": "G", "start": 390 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "NM_153704.6:c.370G>A" ], "proteinEffect": { "hgvs": "NP_714915.3:p.Glu124Lys", "hgvsWellDefined": "NP_714915.3:p.Glu124Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS700392", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000453321.8:c.370G>A" }, "RefSeq": { "hgvs": "NM_153704.6:c.370G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389998.3:p.Glu124Lys" }, "RefSeq": { "hgvs": "NP_714915.3:p.Glu124Lys" } } } }, { "coordinates": [ { "allele": "A", "end": 391, "referenceAllele": "G", "start": 390 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "NR_024522.2:n.391G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS701872" } ], "type": "nucleotide" }