Canonical Allele Identifier: CA401363088

Gene: CARD14 SGSH

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80214726T>A , CM000679.2:g.80214726T>A	GRCh38
NC_000017.10:g.78188525T>A , CM000679.1:g.78188525T>A	GRCh37
NC_000017.9:g.75803120T>A	NCBI36
NG_008229.1:g.10675A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000199.5:c.395A>T (SGSH) MANE Select	NP_000190.1:p.Tyr132Phe
ENST00000326317.11:c.395A>T (SGSH) MANE Select	ENSP00000314606.6:p.Tyr132Phe
NM_000199.3:c.395A>T (SGSH)	NP_000190.1:p.Tyr132Phe
NM_000199.4:c.395A>T (SGSH)	NP_000190.1:p.Tyr132Phe
NM_001352921.1:c.395A>T (SGSH)	NP_001339850.1:p.Tyr132Phe
NM_001352921.2:c.395A>T (SGSH)	NP_001339850.1:p.Tyr132Phe
NM_001352921.3:c.395A>T (SGSH)	NP_001339850.1:p.Tyr132Phe
NM_001352922.1:c.395A>T (SGSH)	NP_001339851.1:p.Tyr132Phe
NM_001352922.2:c.395A>T (SGSH)	NP_001339851.1:p.Tyr132Phe
NR_148201.1:n.376A>T (SGSH)
NR_148201.2:n.309A>T (SGSH)
ENST00000326317.10:c.395A>T (SGSH)	ENSP00000314606.6:p.Tyr132Phe
ENST00000570427.1:c.413A>T (SGSH)	ENSP00000459765.1:p.Tyr138Phe
ENST00000570923.1:c.430A>T (SGSH)	ENSP00000458200.1:p.Thr144Ser
ENST00000571051.5:n.375+307A>T (SGSH)
ENST00000571675.5:n.415A>T (SGSH)
ENST00000572208.5:n.373+307A>T (SGSH)
ENST00000573150.5:c.289A>T (SGSH)	ENSP00000459280.1:p.Thr97Ser
ENST00000574505.5:c.301-47A>T (SGSH)
ENST00000575282.5:n.404A>T (SGSH)
ENST00000576707.5:c.134A>T (SGSH)	ENSP00000461128.1:p.Tyr45Phe
ENST00000576941.5:c.250-398A>T (SGSH)	ENSP00000461160.1:n.250-398A>T
ENST00000703570.1:n.2845-1140T>A (CARD14)
XM_005257582.2:c.395A>T (SGSH)	XP_005257639.1:p.Tyr132Phe
XM_005257583.3:c.395A>T (SGSH)	XP_005257640.1:p.Tyr132Phe
XM_005257583.4:c.395A>T (SGSH)	XP_005257640.1:p.Tyr132Phe
XM_011525126.1:c.395A>T (SGSH)	XP_011523428.1:p.Tyr132Phe
XM_011525127.1:c.395A>T (SGSH)	XP_011523429.1:p.Tyr132Phe
XM_017024952.1:c.395A>T (SGSH)	XP_016880441.1:p.Tyr132Phe
XR_001752585.1:n.415A>T (SGSH)
XR_001752586.1:n.415A>T (SGSH)
XR_001752587.1:n.415A>T (SGSH)
XR_001752588.1:n.415A>T (SGSH)
XR_001752589.1:n.415A>T (SGSH)
XR_001752590.1:n.415A>T (SGSH)
XR_001752591.1:n.415A>T (SGSH)
XR_001752592.1:n.415A>T (SGSH)
XR_002958057.1:n.415A>T (SGSH)
XR_934532.1:n.415A>T (SGSH)
XR_934532.2:n.415A>T (SGSH)