Canonical Allele Identifier: CA401358492

Gene: CARD14 SGSH

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80210549C>T , CM000679.2:g.80210549C>T	GRCh38
NC_000017.10:g.78184348C>T , CM000679.1:g.78184348C>T	GRCh37
NC_000017.9:g.75798943C>T	NCBI36
NG_008229.1:g.14852G>A
NG_032778.1:g.45558C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000199.5:c.1412G>A (SGSH) MANE Select	NP_000190.1:p.Trp471Ter
ENST00000326317.11:c.1412G>A (SGSH) MANE Select	ENSP00000314606.6:p.Trp471Ter
NM_000199.3:c.1412G>A (SGSH)	NP_000190.1:p.Trp471Ter
NM_000199.4:c.1412G>A (SGSH)	NP_000190.1:p.Trp471Ter
NM_001352921.1:c.*499G>A (SGSH)	NP_001339850.1:n.*499G>A
NM_001352921.2:c.*499G>A (SGSH)	NP_001339850.1:n.*499G>A
NM_001352921.3:c.*499G>A (SGSH)	NP_001339850.1:n.*499G>A
NM_001352922.1:c.*462G>A (SGSH)	NP_001339851.1:n.*462G>A
NM_001352922.2:c.*462G>A (SGSH)	NP_001339851.1:n.*462G>A
NR_148201.1:n.1393G>A (SGSH)
NR_148201.2:n.1326G>A (SGSH)
ENST00000326317.10:c.1412G>A (SGSH)	ENSP00000314606.6:p.Trp471Ter
ENST00000572257.5:c.551+1522G>A (SGSH)
ENST00000573150.5:c.*622G>A (SGSH)	ENSP00000459280.1:n.*622G>A
ENST00000575282.5:n.4295G>A (SGSH)
ENST00000576856.1:c.666G>A (SGSH)	ENSP00000460720.1:n.666G>A
ENST00000703570.1:n.2844+1291C>T (CARD14)
XM_005257583.3:c.949+1522G>A (SGSH)	XP_005257640.1:n.949+1522G>A
XM_005257583.4:c.949+1522G>A (SGSH)	XP_005257640.1:n.949+1522G>A
XM_017024952.1:c.*1316G>A (SGSH)	XP_016880441.1:n.*1316G>A
XR_001752585.1:n.1432G>A (SGSH)
XR_001752586.1:n.969+1522G>A (SGSH)
XR_001752587.1:n.969+1522G>A (SGSH)
XR_001752588.1:n.969+1522G>A (SGSH)
XR_001752589.1:n.969+1522G>A (SGSH)
XR_001752590.1:n.969+1522G>A (SGSH)
XR_001752591.1:n.969+1522G>A (SGSH)
XR_001752592.1:n.969+1522G>A (SGSH)
XR_002958057.1:n.1024+1320G>A (SGSH)