Canonical Allele Identifier: CA8817950

Gene: CARD14 SGSH

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80214293T>C , CM000679.2:g.80214293T>C	GRCh38
NC_000017.10:g.78188092T>C , CM000679.1:g.78188092T>C	GRCh37
NC_000017.9:g.75802687T>C	NCBI36
NG_008229.1:g.11108A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000199.5:c.542A>G (SGSH) MANE Select	NP_000190.1:p.His181Arg
ENST00000326317.11:c.542A>G (SGSH) MANE Select	ENSP00000314606.6:p.His181Arg
NM_000199.3:c.542A>G (SGSH)	NP_000190.1:p.His181Arg
NM_000199.4:c.542A>G (SGSH)	NP_000190.1:p.His181Arg
NM_001352921.1:c.542A>G (SGSH)	NP_001339850.1:p.His181Arg
NM_001352921.2:c.542A>G (SGSH)	NP_001339850.1:p.His181Arg
NM_001352921.3:c.542A>G (SGSH)	NP_001339850.1:p.His181Arg
NM_001352922.1:c.542A>G (SGSH)	NP_001339851.1:p.His181Arg
NM_001352922.2:c.542A>G (SGSH)	NP_001339851.1:p.His181Arg
NR_148201.1:n.523A>G (SGSH)
NR_148201.2:n.456A>G (SGSH)
ENST00000326317.10:c.542A>G (SGSH)	ENSP00000314606.6:p.His181Arg
ENST00000570427.1:c.560A>G (SGSH)	ENSP00000459765.1:p.His187Arg
ENST00000570923.1:c.577A>G (SGSH)	ENSP00000458200.1:p.Thr193Ala
ENST00000571051.5:n.411A>G (SGSH)
ENST00000572208.5:n.409A>G (SGSH)
ENST00000572257.5:c.144A>G (SGSH)
ENST00000573150.5:c.436A>G (SGSH)	ENSP00000459280.1:p.Thr146Ala
ENST00000574505.5:c.401A>G (SGSH)
ENST00000575282.5:n.551A>G (SGSH)
ENST00000576707.5:c.281A>G (SGSH)	ENSP00000461128.1:p.His94Arg
ENST00000576941.5:c.285A>G (SGSH)	ENSP00000461160.1:p.Pro95=
ENST00000703570.1:n.2845-1573T>C (CARD14)
XM_005257582.2:c.542A>G (SGSH)	XP_005257639.1:p.His181Arg
XM_005257583.3:c.542A>G (SGSH)	XP_005257640.1:p.His181Arg
XM_005257583.4:c.542A>G (SGSH)	XP_005257640.1:p.His181Arg
XM_011525126.1:c.542A>G (SGSH)	XP_011523428.1:p.His181Arg
XM_011525127.1:c.542A>G (SGSH)	XP_011523429.1:p.His181Arg
XM_017024952.1:c.542A>G (SGSH)	XP_016880441.1:p.His181Arg
XR_001752585.1:n.562A>G (SGSH)
XR_001752586.1:n.562A>G (SGSH)
XR_001752587.1:n.562A>G (SGSH)
XR_001752588.1:n.562A>G (SGSH)
XR_001752589.1:n.562A>G (SGSH)
XR_001752590.1:n.562A>G (SGSH)
XR_001752591.1:n.562A>G (SGSH)
XR_001752592.1:n.562A>G (SGSH)
XR_002958057.1:n.562A>G (SGSH)
XR_934532.1:n.562A>G (SGSH)
XR_934532.2:n.562A>G (SGSH)