Canonical Allele Identifier: CA401359653

Gene: CARD14 SGSH

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80212095T>G , CM000679.2:g.80212095T>G	GRCh38
NC_000017.10:g.78185894T>G , CM000679.1:g.78185894T>G	GRCh37
NC_000017.9:g.75800489T>G	NCBI36
NG_008229.1:g.13306A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000199.5:c.925A>C (SGSH) MANE Select	NP_000190.1:p.Ser309Arg
ENST00000326317.11:c.925A>C (SGSH) MANE Select	ENSP00000314606.6:p.Ser309Arg
NM_000199.3:c.925A>C (SGSH)	NP_000190.1:p.Ser309Arg
NM_000199.4:c.925A>C (SGSH)	NP_000190.1:p.Ser309Arg
NM_001352921.1:c.925A>C (SGSH)	NP_001339850.1:p.Ser309Arg
NM_001352921.2:c.925A>C (SGSH)	NP_001339850.1:p.Ser309Arg
NM_001352921.3:c.925A>C (SGSH)	NP_001339850.1:p.Ser309Arg
NM_001352922.1:c.925A>C (SGSH)	NP_001339851.1:p.Ser309Arg
NM_001352922.2:c.925A>C (SGSH)	NP_001339851.1:p.Ser309Arg
NR_148201.1:n.906A>C (SGSH)
NR_148201.2:n.839A>C (SGSH)
ENST00000326317.10:c.925A>C (SGSH)	ENSP00000314606.6:p.Ser309Arg
ENST00000570923.1:c.*135A>C (SGSH)	ENSP00000458200.1:n.*135A>C
ENST00000572257.5:c.527A>C (SGSH)
ENST00000573150.5:c.*135A>C (SGSH)	ENSP00000459280.1:n.*135A>C
ENST00000575282.5:n.2749A>C (SGSH)
ENST00000576856.1:c.124A>C (SGSH)	ENSP00000460720.1:p.Ser42Arg
ENST00000703570.1:n.2844+2837T>G (CARD14)
XM_005257582.2:c.925A>C (SGSH)	XP_005257639.1:p.Ser309Arg
XM_005257583.3:c.925A>C (SGSH)	XP_005257640.1:p.Ser309Arg
XM_005257583.4:c.925A>C (SGSH)	XP_005257640.1:p.Ser309Arg
XM_011525126.1:c.925A>C (SGSH)	XP_011523428.1:p.Ser309Arg
XM_011525127.1:c.925A>C (SGSH)	XP_011523429.1:p.Ser309Arg
XM_017024952.1:c.925A>C (SGSH)	XP_016880441.1:p.Ser309Arg
XR_001752585.1:n.945A>C (SGSH)
XR_001752586.1:n.945A>C (SGSH)
XR_001752587.1:n.945A>C (SGSH)
XR_001752588.1:n.945A>C (SGSH)
XR_001752589.1:n.945A>C (SGSH)
XR_001752590.1:n.945A>C (SGSH)
XR_001752591.1:n.945A>C (SGSH)
XR_001752592.1:n.945A>C (SGSH)
XR_002958057.1:n.945A>C (SGSH)
XR_934532.1:n.945A>C (SGSH)
XR_934532.2:n.945A>C (SGSH)