Canonical Allele Identifier: CA8818102

Gene: CARD14 SGSH

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80215153G>A , CM000679.2:g.80215153G>A	GRCh38
NC_000017.10:g.78188952G>A , CM000679.1:g.78188952G>A	GRCh37
NC_000017.9:g.75803547G>A	NCBI36
NG_008229.1:g.10248C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000199.5:c.250-15C>T (SGSH) MANE Select	NP_000190.1:n.250-15C>T
ENST00000326317.11:c.250-15C>T (SGSH) MANE Select	ENSP00000314606.6:n.250-15C>T
NM_000199.3:c.250-15C>T (SGSH)	NP_000190.1:n.250-15C>T
NM_000199.4:c.250-15C>T (SGSH)	NP_000190.1:n.250-15C>T
NM_001352921.1:c.250-15C>T (SGSH)	NP_001339850.1:n.250-15C>T
NM_001352921.2:c.250-15C>T (SGSH)	NP_001339850.1:n.250-15C>T
NM_001352921.3:c.250-15C>T (SGSH)	NP_001339850.1:n.250-15C>T
NM_001352922.1:c.250-15C>T (SGSH)	NP_001339851.1:n.250-15C>T
NM_001352922.2:c.250-15C>T (SGSH)	NP_001339851.1:n.250-15C>T
NR_148201.1:n.337-388C>T (SGSH)
NR_148201.2:n.270-388C>T (SGSH)
ENST00000326317.10:c.250-15C>T (SGSH)	ENSP00000314606.6:n.250-15C>T
ENST00000570427.1:c.250-15C>T (SGSH)	ENSP00000459765.1:n.250-15C>T
ENST00000570923.1:c.285-15C>T (SGSH)	ENSP00000458200.1:n.285-15C>T
ENST00000571051.5:n.270-15C>T (SGSH)
ENST00000571675.5:n.270-15C>T (SGSH)
ENST00000572208.5:n.268-15C>T (SGSH)
ENST00000573150.5:c.250-388C>T (SGSH)	ENSP00000459280.1:n.250-388C>T
ENST00000574505.5:c.195-15C>T (SGSH)
ENST00000575188.5:n.270-15C>T (SGSH)
ENST00000575282.5:n.259-15C>T (SGSH)
ENST00000576707.5:c.-12-15C>T (SGSH)	ENSP00000461128.1:n.-12-15C>T
ENST00000576941.5:c.250-825C>T (SGSH)	ENSP00000461160.1:n.250-825C>T
ENST00000703570.1:n.2845-713G>A (CARD14)
XM_005257582.2:c.250-15C>T (SGSH)	XP_005257639.1:n.250-15C>T
XM_005257583.3:c.250-15C>T (SGSH)	XP_005257640.1:n.250-15C>T
XM_005257583.4:c.250-15C>T (SGSH)	XP_005257640.1:n.250-15C>T
XM_011525126.1:c.250-15C>T (SGSH)	XP_011523428.1:n.250-15C>T
XM_011525127.1:c.250-15C>T (SGSH)	XP_011523429.1:n.250-15C>T
XM_017024952.1:c.250-15C>T (SGSH)	XP_016880441.1:n.250-15C>T
XR_001752585.1:n.270-15C>T (SGSH)
XR_001752586.1:n.270-15C>T (SGSH)
XR_001752587.1:n.270-15C>T (SGSH)
XR_001752588.1:n.270-15C>T (SGSH)
XR_001752589.1:n.270-15C>T (SGSH)
XR_001752590.1:n.270-15C>T (SGSH)
XR_001752591.1:n.270-15C>T (SGSH)
XR_001752592.1:n.270-15C>T (SGSH)
XR_002958057.1:n.270-15C>T (SGSH)
XR_934532.1:n.270-15C>T (SGSH)
XR_934532.2:n.270-15C>T (SGSH)