Canonical Allele Identifier: CA117262
Gene: SGSH HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 5113
ClinVar RCV Id: RCV000005420
dbSNP Id: rs104894638

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80214672C>T , CM000679.2:g.80214672C>T GRCh38
NC_000017.10:g.78188471C>T , CM000679.1:g.78188471C>T GRCh37
NC_000017.9:g.75803066C>T NCBI36
NG_008229.1:g.10729G>A

Transcript Alleles

HGVS Amino-acid change
NM_000199.3:c.449G>A VV NP_000190.1:p.Arg150Gln
XM_005257582.2:c.449G>A XP_005257639.1:p.Arg150Gln
XM_005257583.3:c.449G>A XP_005257640.1:p.Arg150Gln
XM_011525126.1:c.449G>A XP_011523428.1:p.Arg150Gln
XM_011525127.1:c.449G>A XP_011523429.1:p.Arg150Gln
XR_934532.1:n.469G>A
NM_000199.4:c.449G>A VV
NM_001352921.1:c.449G>A VV NP_001339850.1:p.Arg150Gln
NM_001352922.1:c.449G>A VV NP_001339851.1:p.Arg150Gln
NR_148201.1:n.430G>A
XM_005257583.4:c.449G>A
XM_017024952.1:c.449G>A XP_016880441.1:p.Arg150Gln
XR_001752585.1:n.469G>A
XR_001752586.1:n.469G>A
XR_001752587.1:n.469G>A
XR_001752588.1:n.469G>A
XR_001752589.1:n.469G>A
XR_001752590.1:n.469G>A
XR_001752591.1:n.469G>A
XR_001752592.1:n.469G>A
XR_002958057.1:n.469G>A
XR_934532.2:n.469G>A
NM_000199.5:c.449G>A VV MANE Preferred
ENST00000326317.10:c.449G>A ENSP00000314606.6:p.Arg150Gln
ENST00000570427.1:c.467G>A ENSP00000459765.1:p.Arg156Gln
ENST00000570923.1:c.484G>A ENSP00000458200.1:p.Gly162Arg
ENST00000571051.5:n.376-344G>A
ENST00000571675.5:n.469G>A
ENST00000572208.5:n.374-344G>A
ENST00000572257.5:n.51G>A
ENST00000573150.5:c.343G>A ENSP00000459280.1:p.Gly115Arg
ENST00000574505.5:n.308G>A
ENST00000575282.5:n.458G>A
ENST00000576707.5:c.188G>A ENSP00000461128.1:p.Arg63Gln
ENST00000576941.5:c.250-344G>A ENSP00000461160.1:p.=