Canonical Allele Identifier: CA2640322231

Gene: SGSH

Linked Data

• gnomAD v4: 17-80216961-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80216961C>A , CM000679.2:g.80216961C>A	GRCh38
NC_000017.10:g.78190760C>A , CM000679.1:g.78190760C>A	GRCh37
NC_000017.9:g.75805355C>A	NCBI36
NG_008229.1:g.8440G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000326317.11:c.249+71G>T MANE Select	ENSP00000314606.6:n.249+71G>T
ENST00000326317.10:c.249+71G>T	ENSP00000314606.6:n.249+71G>T
ENST00000570427.1:c.249+71G>T	ENSP00000459765.1:n.249+71G>T
ENST00000570923.1:c.284+71G>T	ENSP00000458200.1:n.284+71G>T
ENST00000571051.5:n.269+71G>T
ENST00000571075.1:n.340G>T
ENST00000571675.5:n.269+71G>T
ENST00000572208.5:n.267+71G>T
ENST00000573150.5:c.249+71G>T	ENSP00000459280.1:n.249+71G>T
ENST00000574505.5:c.194+71G>T
ENST00000575188.5:n.269+71G>T
ENST00000575282.5:n.258+71G>T
ENST00000576707.5:c.-13+71G>T	ENSP00000461128.1:n.-13+71G>T
ENST00000576941.5:c.249+71G>T	ENSP00000461160.1:n.249+71G>T
NM_000199.3:c.249+71G>T	NP_000190.1:n.249+71G>T
XM_005257582.2:c.249+71G>T	XP_005257639.1:n.249+71G>T
XM_005257583.3:c.249+71G>T	XP_005257640.1:n.249+71G>T
XM_011525126.1:c.249+71G>T	XP_011523428.1:n.249+71G>T
XM_011525127.1:c.249+71G>T	XP_011523429.1:n.249+71G>T
XR_934532.1:n.269+71G>T
NM_000199.4:c.249+71G>T	NP_000190.1:n.249+71G>T
NM_001352921.1:c.249+71G>T	NP_001339850.1:n.249+71G>T
NM_001352922.1:c.249+71G>T	NP_001339851.1:n.249+71G>T
NR_148201.1:n.336+71G>T
XM_005257583.4:c.249+71G>T	XP_005257640.1:n.249+71G>T
XM_017024952.1:c.249+71G>T	XP_016880441.1:n.249+71G>T
XR_001752585.1:n.269+71G>T
XR_001752586.1:n.269+71G>T
XR_001752587.1:n.269+71G>T
XR_001752588.1:n.269+71G>T
XR_001752589.1:n.269+71G>T
XR_001752590.1:n.269+71G>T
XR_001752591.1:n.269+71G>T
XR_001752592.1:n.269+71G>T
XR_002958057.1:n.269+71G>T
XR_934532.2:n.269+71G>T
NM_000199.5:c.249+71G>T MANE Select	NP_000190.1:n.249+71G>T
NM_001352921.2:c.249+71G>T	NP_001339850.1:n.249+71G>T
NM_001352922.2:c.249+71G>T	NP_001339851.1:n.249+71G>T
NR_148201.2:n.269+71G>T
NM_001352921.3:c.249+71G>T	NP_001339850.1:n.249+71G>T