Canonical Allele Identifier: CA401364609

Gene: SGSH

Linked Data

• ClinVar Variation Id: 967170
• ClinVar RCV Id: RCV001242006
• dbSNP Id: rs1230391147
• MyVariant Identifiers: chr17:g.78190957G>T (hg19) ; chr17:g.80217158G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80217158G>T , CM000679.2:g.80217158G>T	GRCh38
NC_000017.10:g.78190957G>T , CM000679.1:g.78190957G>T	GRCh37
NC_000017.9:g.75805552G>T	NCBI36
NG_008229.1:g.8243C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000326317.11:c.123C>A MANE Select	ENSP00000314606.6:p.Asn41Lys
ENST00000326317.10:c.123C>A	ENSP00000314606.6:p.Asn41Lys
ENST00000570427.1:c.123C>A	ENSP00000459765.1:p.Asn41Lys
ENST00000570923.1:c.158C>A	ENSP00000458200.1:p.Thr53Lys
ENST00000571051.5:n.143C>A
ENST00000571075.1:n.143C>A
ENST00000571675.5:n.143C>A
ENST00000572208.5:n.141C>A
ENST00000573150.5:c.123C>A	ENSP00000459280.1:p.Asn41Lys
ENST00000574505.5:c.68C>A
ENST00000575188.5:n.143C>A
ENST00000575282.5:n.132C>A
ENST00000576707.5:c.-139C>A	ENSP00000461128.1:n.-139C>A
ENST00000576941.5:c.123C>A	ENSP00000461160.1:p.Asn41Lys
NM_000199.3:c.123C>A	NP_000190.1:p.Asn41Lys
XM_005257582.2:c.123C>A	XP_005257639.1:p.Asn41Lys
XM_005257583.3:c.123C>A	XP_005257640.1:p.Asn41Lys
XM_011525126.1:c.123C>A	XP_011523428.1:p.Asn41Lys
XM_011525127.1:c.123C>A	XP_011523429.1:p.Asn41Lys
XR_934532.1:n.143C>A
NM_000199.4:c.123C>A	NP_000190.1:p.Asn41Lys
NM_001352921.1:c.123C>A	NP_001339850.1:p.Asn41Lys
NM_001352922.1:c.123C>A	NP_001339851.1:p.Asn41Lys
NR_148201.1:n.210C>A
XM_005257583.4:c.123C>A	XP_005257640.1:p.Asn41Lys
XM_017024952.1:c.123C>A	XP_016880441.1:p.Asn41Lys
XR_001752585.1:n.143C>A
XR_001752586.1:n.143C>A
XR_001752587.1:n.143C>A
XR_001752588.1:n.143C>A
XR_001752589.1:n.143C>A
XR_001752590.1:n.143C>A
XR_001752591.1:n.143C>A
XR_001752592.1:n.143C>A
XR_002958057.1:n.143C>A
XR_934532.2:n.143C>A
NM_000199.5:c.123C>A MANE Select	NP_000190.1:p.Asn41Lys
NM_001352921.2:c.123C>A	NP_001339850.1:p.Asn41Lys
NM_001352922.2:c.123C>A	NP_001339851.1:p.Asn41Lys
NR_148201.2:n.143C>A
NM_001352921.3:c.123C>A	NP_001339850.1:p.Asn41Lys