Canonical Allele Identifier: CA10518559
Gene: STK26 HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.132054673C>T
GRCh37 chrX:g.131188701C>T
Revel Score:
ENST00000394334 (MANE Select) 0.186
ENST00000481105 0.186
ENST00000354719 0.186
ENST00000496850 0.186
gnomAD v2:
X:131188701 C / T
gnomAD v3:
X:132054673 C / T
gnomAD v4:
chrX-132054673-C-T
Joint Max Group AF 0.00000725 (AMR)
Genomes Max Group AF 0.00000623 (NFE)
Exomes Max Group AF 0.00000942 (AMR)
ClinVar RCV:
RCV004155823
ClinVar Variation:
2309504
dbSNP:
375587063
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.132054673C>T , CM000685.2:g.132054673C>T GRCh38
NC_000023.10:g.131188701C>T , CM000685.1:g.131188701C>T GRCh37
NC_000023.9:g.131016382C>T NCBI36
NG_029562.1:g.36457C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000394334.7:c.85C>T MANE Select ENSP00000377867.2:p.Arg29Cys
ENST00000354719.10:c.85C>T ENSP00000346755.6:p.Arg29Cys
ENST00000394334.6:c.85C>T ENSP00000377867.2:p.Arg29Cys
ENST00000394335.6:c.43-8760C>T ENSP00000377868.2:n.43-8760C>T
ENST00000481105.5:c.85C>T ENSP00000418753.1:p.Arg29Cys
ENST00000496850.1:c.85C>T ENSP00000419702.1:p.Arg29Cys
NM_001042452.1:c.85C>T NP_001035917.1:p.Arg29Cys
NM_001042453.1:c.43-8760C>T NP_001035918.1:n.43-8760C>T
NM_016542.3:c.85C>T NP_057626.2:p.Arg29Cys
XM_011531349.1:c.-210C>T XP_011529651.1:n.-210C>T
XM_011531350.1:c.-344C>T XP_011529652.1:n.-344C>T
NM_016542.4:c.85C>T MANE Select NP_057626.2:p.Arg29Cys
NM_001042452.2:c.85C>T NP_001035917.1:p.Arg29Cys
NM_001042453.2:c.43-8760C>T NP_001035918.1:n.43-8760C>T
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