Canonical Allele Identifier: CA2277862002

Gene: CARD14 SGSH

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80210131G= , CM000679.2:g.80210131G=	GRCh38
NC_000017.10:g.78183930G= , CM000679.1:g.78183930G=	GRCh37
NC_000017.9:g.75798525G=	NCBI36
NG_008229.1:g.15270C=
NG_032778.1:g.45140G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703570.1:n.2844+873G= (CARD14)
ENST00000326317.11:c.*321C= (SGSH) MANE Select	ENSP00000314606.6:n.*321C=
ENST00000326317.10:c.*321C= (SGSH)	ENSP00000314606.6:n.*321C=
ENST00000572257.5:c.551+1940C= (SGSH)
ENST00000573150.5:c.*1040C= (SGSH)	ENSP00000459280.1:n.*1040C=
ENST00000575282.5:n.4713C= (SGSH)
NM_000199.3:c.*321C= (SGSH)	NP_000190.1:n.*321C=
XM_005257583.3:c.949+1940C= (SGSH)	XP_005257640.1:n.949+1940C=
NM_000199.4:c.*321C= (SGSH)	NP_000190.1:n.*321C=
NM_001352921.1:c.*917C= (SGSH)	NP_001339850.1:n.*917C=
NM_001352922.1:c.*880C= (SGSH)	NP_001339851.1:n.*880C=
NR_148201.1:n.1811C= (SGSH)
XM_005257583.4:c.949+1940C= (SGSH)	XP_005257640.1:n.949+1940C=
XM_017024952.1:c.*1734C= (SGSH)	XP_016880441.1:n.*1734C=
XR_001752585.1:n.1850C= (SGSH)
XR_001752586.1:n.969+1940C= (SGSH)
XR_001752587.1:n.969+1940C= (SGSH)
XR_001752588.1:n.969+1940C= (SGSH)
XR_001752589.1:n.969+1940C= (SGSH)
XR_001752590.1:n.969+1940C= (SGSH)
XR_001752591.1:n.969+1940C= (SGSH)
XR_001752592.1:n.969+1940C= (SGSH)
XR_002958057.1:n.1024+1738C= (SGSH)
NM_000199.5:c.*321C= (SGSH) MANE Select	NP_000190.1:n.*321C=
NM_001352921.2:c.*917C= (SGSH)	NP_001339850.1:n.*917C=
NM_001352922.2:c.*880C= (SGSH)	NP_001339851.1:n.*880C=
NR_148201.2:n.1744C= (SGSH)
NM_001352921.3:c.*917C= (SGSH)	NP_001339850.1:n.*917C=