Canonical Allele Identifier: CA401364855

Gene: SGSH

Linked Data

• gnomAD v4: 17-80217207-A-T
• MyVariant Identifiers: chr17:g.78191006A>T (hg19) ; chr17:g.80217207A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80217207A>T , CM000679.2:g.80217207A>T	GRCh38
NC_000017.10:g.78191006A>T , CM000679.1:g.78191006A>T	GRCh37
NC_000017.9:g.75805601A>T	NCBI36
NG_008229.1:g.8194T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326317.11:c.89-15T>A MANE Select	ENSP00000314606.6:n.89-15T>A
ENST00000326317.10:c.89-15T>A	ENSP00000314606.6:n.89-15T>A
ENST00000570427.1:c.89-15T>A	ENSP00000459765.1:n.89-15T>A
ENST00000570923.1:c.109T>A	ENSP00000458200.1:p.Ser37Thr
ENST00000571051.5:n.109-15T>A
ENST00000571075.1:n.109-15T>A
ENST00000571675.5:n.109-15T>A
ENST00000572208.5:n.107-15T>A
ENST00000573150.5:c.89-15T>A	ENSP00000459280.1:n.89-15T>A
ENST00000574505.5:c.34-15T>A
ENST00000575188.5:n.109-15T>A
ENST00000575282.5:n.98-15T>A
ENST00000576707.5:c.-173-15T>A	ENSP00000461128.1:n.-173-15T>A
ENST00000576941.5:c.89-15T>A	ENSP00000461160.1:n.89-15T>A
NM_000199.3:c.89-15T>A	NP_000190.1:n.89-15T>A
XM_005257582.2:c.89-15T>A	XP_005257639.1:n.89-15T>A
XM_005257583.3:c.89-15T>A	XP_005257640.1:n.89-15T>A
XM_011525126.1:c.89-15T>A	XP_011523428.1:n.89-15T>A
XM_011525127.1:c.89-15T>A	XP_011523429.1:n.89-15T>A
XR_934532.1:n.109-15T>A
NM_000199.4:c.89-15T>A	NP_000190.1:n.89-15T>A
NM_001352921.1:c.89-15T>A	NP_001339850.1:n.89-15T>A
NM_001352922.1:c.89-15T>A	NP_001339851.1:n.89-15T>A
NR_148201.1:n.176-15T>A
XM_005257583.4:c.89-15T>A	XP_005257640.1:n.89-15T>A
XM_017024952.1:c.89-15T>A	XP_016880441.1:n.89-15T>A
XR_001752585.1:n.109-15T>A
XR_001752586.1:n.109-15T>A
XR_001752587.1:n.109-15T>A
XR_001752588.1:n.109-15T>A
XR_001752589.1:n.109-15T>A
XR_001752590.1:n.109-15T>A
XR_001752591.1:n.109-15T>A
XR_001752592.1:n.109-15T>A
XR_002958057.1:n.109-15T>A
XR_934532.2:n.109-15T>A
NM_000199.5:c.89-15T>A MANE Select	NP_000190.1:n.89-15T>A
NM_001352921.2:c.89-15T>A	NP_001339850.1:n.89-15T>A
NM_001352922.2:c.89-15T>A	NP_001339851.1:n.89-15T>A
NR_148201.2:n.109-15T>A
NM_001352921.3:c.89-15T>A	NP_001339850.1:n.89-15T>A