Canonical Allele Identifier: CA121122
Gene: STS HGNC NCBI

Linked Data

ClinVar Variation Id: 10554
ClinVar RCV Id: RCV000011300 RCV001093287
dbSNP Id: rs137853167
MyVariant Identifiers: chrX:g.7223150C>T (hg19) chrX:g.7305109C>T (hg38)
PubMed: PMID:1539590 PMID:2668275 PMID:3032454 PMID:9252398
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.7305109C>T , CM000685.2:g.7305109C>T GRCh38
NC_000023.10:g.7223150C>T , CM000685.1:g.7223150C>T GRCh37
NC_000023.9:g.7233150C>T NCBI36
NG_021472.1:g.90679C>T
NG_021472.2:g.162858C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000217961.5:c.1007C>T ENSP00000217961.5:p.Ser336Leu
ENST00000658154.1:n.1247C>T
ENST00000660000.2:c.944-20230C>T ENSP00000499642.2:n.944-20230C>T
ENST00000664306.2:c.1007C>T ENSP00000499549.2:p.Ser336Leu
ENST00000666110.2:c.1007C>T ENSP00000499472.2:p.Ser336Leu
ENST00000674429.1:c.1007C>T MANE Select ENSP00000501534.1:p.Ser336Leu
ENST00000674499.1:c.1022C>T ENSP00000501360.1:p.Ser341Leu
ENST00000217961.4:c.1022C>T ENSP00000217961.4:p.Ser341Leu
NM_000351.4:c.1022C>T NP_000342.2:p.Ser341Leu
XM_005274511.1:c.1043C>T XP_005274568.1:p.Ser348Leu
XM_011545515.1:c.1043C>T XP_011543817.1:p.Ser348Leu
XM_011545516.1:c.1043C>T XP_011543818.1:p.Ser348Leu
XM_011545517.1:c.1007C>T XP_011543819.1:p.Ser336Leu
XM_011545518.1:c.1007C>T XP_011543820.1:p.Ser336Leu
NM_000351.5:c.1022C>T NP_000342.2:p.Ser341Leu
NM_001320750.1:c.1043C>T NP_001307679.1:p.Ser348Leu
NM_001320751.1:c.1043C>T NP_001307680.1:p.Ser348Leu
NM_001320752.1:c.1043C>T NP_001307681.1:p.Ser348Leu
NM_001320753.1:c.1007C>T NP_001307682.1:p.Ser336Leu
NM_001320754.1:c.1007C>T NP_001307683.1:p.Ser336Leu
NM_000351.7:c.1007C>T NP_000342.3:p.Ser336Leu
NM_001320750.3:c.1043C>T NP_001307679.1:p.Ser348Leu
NM_001320751.2:c.1043C>T NP_001307680.1:p.Ser348Leu
NM_001320752.2:c.1007C>T MANE Select NP_001307681.2:p.Ser336Leu
NM_001320753.2:c.1007C>T NP_001307682.1:p.Ser336Leu
NM_001320754.2:c.1007C>T NP_001307683.1:p.Ser336Leu
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