Canonical Allele Identifier: CA294901185

Gene: SGSH SLC26A11

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80220295C>T , CM000679.2:g.80220295C>T	GRCh38
NC_000017.10:g.78194094C>T , CM000679.1:g.78194094C>T	GRCh37
NC_000017.9:g.75808689C>T	NCBI36
NG_008229.1:g.5106G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000199.5:c.19G>A (SGSH) MANE Select	NP_000190.1:p.Ala7Thr
ENST00000326317.11:c.19G>A (SGSH) MANE Select	ENSP00000314606.6:p.Ala7Thr
NM_000199.3:c.19G>A (SGSH)	NP_000190.1:p.Ala7Thr
NM_000199.4:c.19G>A (SGSH)	NP_000190.1:p.Ala7Thr
NM_001352921.1:c.19G>A (SGSH)	NP_001339850.1:p.Ala7Thr
NM_001352921.2:c.19G>A (SGSH)	NP_001339850.1:p.Ala7Thr
NM_001352921.3:c.19G>A (SGSH)	NP_001339850.1:p.Ala7Thr
NM_001352922.1:c.19G>A (SGSH)	NP_001339851.1:p.Ala7Thr
NM_001352922.2:c.19G>A (SGSH)	NP_001339851.1:p.Ala7Thr
NR_148201.1:n.106G>A (SGSH)
NR_148201.2:n.39G>A (SGSH)
ENST00000326317.10:c.19G>A (SGSH)	ENSP00000314606.6:p.Ala7Thr
ENST00000570427.1:c.19G>A (SGSH)	ENSP00000459765.1:p.Ala7Thr
ENST00000570923.1:c.19G>A (SGSH)	ENSP00000458200.1:p.Ala7Thr
ENST00000571051.5:n.39G>A (SGSH)
ENST00000571075.1:n.39G>A (SGSH)
ENST00000571675.5:n.39G>A (SGSH)
ENST00000572208.5:n.37G>A (SGSH)
ENST00000573150.5:c.19G>A (SGSH)	ENSP00000459280.1:p.Ala7Thr
ENST00000575188.5:n.39G>A (SGSH)
ENST00000575282.5:n.28G>A (SGSH)
ENST00000576707.5:c.-174+587G>A (SGSH)	ENSP00000461128.1:n.-174+587G>A
ENST00000576941.5:c.19G>A (SGSH)	ENSP00000461160.1:p.Ala7Thr
ENST00000577155.5:c.-14+307C>T (SLC26A11)	ENSP00000458521.1:n.-14+307C>T
XM_005257582.2:c.19G>A (SGSH)	XP_005257639.1:p.Ala7Thr
XM_005257583.3:c.19G>A (SGSH)	XP_005257640.1:p.Ala7Thr
XM_005257583.4:c.19G>A (SGSH)	XP_005257640.1:p.Ala7Thr
XM_011525126.1:c.19G>A (SGSH)	XP_011523428.1:p.Ala7Thr
XM_011525127.1:c.19G>A (SGSH)	XP_011523429.1:p.Ala7Thr
XM_017024505.1:c.-17C>T (SLC26A11)	XP_016879994.1:n.-17C>T
XM_017024506.1:c.-17C>T (SLC26A11)	XP_016879995.1:n.-17C>T
XM_017024952.1:c.19G>A (SGSH)	XP_016880441.1:p.Ala7Thr
XR_001752498.1:n.9C>T (SLC26A11)
XR_001752499.1:n.9C>T (SLC26A11)
XR_001752585.1:n.39G>A (SGSH)
XR_001752586.1:n.39G>A (SGSH)
XR_001752587.1:n.39G>A (SGSH)
XR_001752588.1:n.39G>A (SGSH)
XR_001752589.1:n.39G>A (SGSH)
XR_001752590.1:n.39G>A (SGSH)
XR_001752591.1:n.39G>A (SGSH)
XR_001752592.1:n.39G>A (SGSH)
XR_002958057.1:n.39G>A (SGSH)
XR_934532.1:n.39G>A (SGSH)
XR_934532.2:n.39G>A (SGSH)