Canonical Allele Identifier: CA2277862064

Gene: CARD14 SGSH

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80210254G= , CM000679.2:g.80210254G=	GRCh38
NC_000017.10:g.78184053G= , CM000679.1:g.78184053G=	GRCh37
NC_000017.9:g.75798648G=	NCBI36
NG_008229.1:g.15147C=
NG_032778.1:g.45263G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703570.1:n.2844+996G= (CARD14)
ENST00000326317.11:c.*198C= (SGSH) MANE Select	ENSP00000314606.6:n.*198C=
ENST00000326317.10:c.*198C= (SGSH)	ENSP00000314606.6:n.*198C=
ENST00000572257.5:c.551+1817C= (SGSH)
ENST00000573150.5:c.*917C= (SGSH)	ENSP00000459280.1:n.*917C=
ENST00000575282.5:n.4590C= (SGSH)
NM_000199.3:c.*198C= (SGSH)	NP_000190.1:n.*198C=
XM_005257583.3:c.949+1817C= (SGSH)	XP_005257640.1:n.949+1817C=
NM_000199.4:c.*198C= (SGSH)	NP_000190.1:n.*198C=
NM_001352921.1:c.*794C= (SGSH)	NP_001339850.1:n.*794C=
NM_001352922.1:c.*757C= (SGSH)	NP_001339851.1:n.*757C=
NR_148201.1:n.1688C= (SGSH)
XM_005257583.4:c.949+1817C= (SGSH)	XP_005257640.1:n.949+1817C=
XM_017024952.1:c.*1611C= (SGSH)	XP_016880441.1:n.*1611C=
XR_001752585.1:n.1727C= (SGSH)
XR_001752586.1:n.969+1817C= (SGSH)
XR_001752587.1:n.969+1817C= (SGSH)
XR_001752588.1:n.969+1817C= (SGSH)
XR_001752589.1:n.969+1817C= (SGSH)
XR_001752590.1:n.969+1817C= (SGSH)
XR_001752591.1:n.969+1817C= (SGSH)
XR_001752592.1:n.969+1817C= (SGSH)
XR_002958057.1:n.1024+1615C= (SGSH)
NM_000199.5:c.*198C= (SGSH) MANE Select	NP_000190.1:n.*198C=
NM_001352921.2:c.*794C= (SGSH)	NP_001339850.1:n.*794C=
NM_001352922.2:c.*757C= (SGSH)	NP_001339851.1:n.*757C=
NR_148201.2:n.1621C= (SGSH)
NM_001352921.3:c.*794C= (SGSH)	NP_001339850.1:n.*794C=