Canonical Allele Identifier: CA401364184

Gene: SGSH

Linked Data

• ClinVar Variation Id: 1614641
• ClinVar RCV Id: RCV002078756
• dbSNP Id: rs2144781434
• gnomAD v4: 17-80217071-G-A
• MyVariant Identifiers: chr17:g.78190870G>A (hg19) ; chr17:g.80217071G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80217071G>A , CM000679.2:g.80217071G>A	GRCh38
NC_000017.10:g.78190870G>A , CM000679.1:g.78190870G>A	GRCh37
NC_000017.9:g.75805465G>A	NCBI36
NG_008229.1:g.8330C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326317.11:c.210C>T MANE Select	ENSP00000314606.6:p.Cys70=
ENST00000326317.10:c.210C>T	ENSP00000314606.6:p.Cys70=
ENST00000570427.1:c.210C>T	ENSP00000459765.1:p.Cys70=
ENST00000570923.1:c.245C>T	ENSP00000458200.1:p.Ala82Val
ENST00000571051.5:n.230C>T
ENST00000571075.1:n.230C>T
ENST00000571675.5:n.230C>T
ENST00000572208.5:n.228C>T
ENST00000573150.5:c.210C>T	ENSP00000459280.1:p.Cys70=
ENST00000574505.5:c.155C>T
ENST00000575188.5:n.230C>T
ENST00000575282.5:n.219C>T
ENST00000576707.5:c.-52C>T	ENSP00000461128.1:n.-52C>T
ENST00000576941.5:c.210C>T	ENSP00000461160.1:p.Cys70=
NM_000199.3:c.210C>T	NP_000190.1:p.Cys70=
XM_005257582.2:c.210C>T	XP_005257639.1:p.Cys70=
XM_005257583.3:c.210C>T	XP_005257640.1:p.Cys70=
XM_011525126.1:c.210C>T	XP_011523428.1:p.Cys70=
XM_011525127.1:c.210C>T	XP_011523429.1:p.Cys70=
XR_934532.1:n.230C>T
NM_000199.4:c.210C>T	NP_000190.1:p.Cys70=
NM_001352921.1:c.210C>T	NP_001339850.1:p.Cys70=
NM_001352922.1:c.210C>T	NP_001339851.1:p.Cys70=
NR_148201.1:n.297C>T
XM_005257583.4:c.210C>T	XP_005257640.1:p.Cys70=
XM_017024952.1:c.210C>T	XP_016880441.1:p.Cys70=
XR_001752585.1:n.230C>T
XR_001752586.1:n.230C>T
XR_001752587.1:n.230C>T
XR_001752588.1:n.230C>T
XR_001752589.1:n.230C>T
XR_001752590.1:n.230C>T
XR_001752591.1:n.230C>T
XR_001752592.1:n.230C>T
XR_002958057.1:n.230C>T
XR_934532.2:n.230C>T
NM_000199.5:c.210C>T MANE Select	NP_000190.1:p.Cys70=
NM_001352921.2:c.210C>T	NP_001339850.1:p.Cys70=
NM_001352922.2:c.210C>T	NP_001339851.1:p.Cys70=
NR_148201.2:n.230C>T
NM_001352921.3:c.210C>T	NP_001339850.1:p.Cys70=