Canonical Allele Identifier: CA8817948

Gene: CARD14 SGSH

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80214290C>T , CM000679.2:g.80214290C>T	GRCh38
NC_000017.10:g.78188089C>T , CM000679.1:g.78188089C>T	GRCh37
NC_000017.9:g.75802684C>T	NCBI36
NG_008229.1:g.11111G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000199.5:c.545G>A (SGSH) MANE Select	NP_000190.1:p.Arg182His
ENST00000326317.11:c.545G>A (SGSH) MANE Select	ENSP00000314606.6:p.Arg182His
NM_000199.3:c.545G>A (SGSH)	NP_000190.1:p.Arg182His
NM_000199.4:c.545G>A (SGSH)	NP_000190.1:p.Arg182His
NM_001352921.1:c.545G>A (SGSH)	NP_001339850.1:p.Arg182His
NM_001352921.2:c.545G>A (SGSH)	NP_001339850.1:p.Arg182His
NM_001352921.3:c.545G>A (SGSH)	NP_001339850.1:p.Arg182His
NM_001352922.1:c.545G>A (SGSH)	NP_001339851.1:p.Arg182His
NM_001352922.2:c.545G>A (SGSH)	NP_001339851.1:p.Arg182His
NR_148201.1:n.526G>A (SGSH)
NR_148201.2:n.459G>A (SGSH)
ENST00000326317.10:c.545G>A (SGSH)	ENSP00000314606.6:p.Arg182His
ENST00000570427.1:c.563G>A (SGSH)
ENST00000570923.1:c.580G>A (SGSH)	ENSP00000458200.1:p.Ala194Thr
ENST00000571051.5:n.414G>A (SGSH)
ENST00000572208.5:n.412G>A (SGSH)
ENST00000572257.5:c.147G>A (SGSH)
ENST00000573150.5:c.439G>A (SGSH)	ENSP00000459280.1:p.Ala147Thr
ENST00000574505.5:c.404G>A (SGSH)
ENST00000575282.5:n.554G>A (SGSH)
ENST00000576707.5:c.284G>A (SGSH)	ENSP00000461128.1:p.Arg95His
ENST00000576941.5:c.288G>A (SGSH)	ENSP00000461160.1:p.Pro96=
ENST00000703570.1:n.2845-1576C>T (CARD14)
XM_005257582.2:c.545G>A (SGSH)	XP_005257639.1:p.Arg182His
XM_005257583.3:c.545G>A (SGSH)	XP_005257640.1:p.Arg182His
XM_005257583.4:c.545G>A (SGSH)	XP_005257640.1:p.Arg182His
XM_011525126.1:c.545G>A (SGSH)	XP_011523428.1:p.Arg182His
XM_011525127.1:c.545G>A (SGSH)	XP_011523429.1:p.Arg182His
XM_017024952.1:c.545G>A (SGSH)	XP_016880441.1:p.Arg182His
XR_001752585.1:n.565G>A (SGSH)
XR_001752586.1:n.565G>A (SGSH)
XR_001752587.1:n.565G>A (SGSH)
XR_001752588.1:n.565G>A (SGSH)
XR_001752589.1:n.565G>A (SGSH)
XR_001752590.1:n.565G>A (SGSH)
XR_001752591.1:n.565G>A (SGSH)
XR_001752592.1:n.565G>A (SGSH)
XR_002958057.1:n.565G>A (SGSH)
XR_934532.1:n.565G>A (SGSH)
XR_934532.2:n.565G>A (SGSH)