Canonical Allele Identifier: CA401358475

Gene: CARD14 SGSH

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80210543C>T , CM000679.2:g.80210543C>T	GRCh38
NC_000017.10:g.78184342C>T , CM000679.1:g.78184342C>T	GRCh37
NC_000017.9:g.75798937C>T	NCBI36
NG_008229.1:g.14858G>A
NG_032778.1:g.45552C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000199.5:c.1418G>A (SGSH) MANE Select	NP_000190.1:p.Trp473Ter
ENST00000326317.11:c.1418G>A (SGSH) MANE Select	ENSP00000314606.6:p.Trp473Ter
NM_000199.3:c.1418G>A (SGSH)	NP_000190.1:p.Trp473Ter
NM_000199.4:c.1418G>A (SGSH)	NP_000190.1:p.Trp473Ter
NM_001352921.1:c.*505G>A (SGSH)	NP_001339850.1:n.*505G>A
NM_001352921.2:c.*505G>A (SGSH)	NP_001339850.1:n.*505G>A
NM_001352921.3:c.*505G>A (SGSH)	NP_001339850.1:n.*505G>A
NM_001352922.1:c.*468G>A (SGSH)	NP_001339851.1:n.*468G>A
NM_001352922.2:c.*468G>A (SGSH)	NP_001339851.1:n.*468G>A
NR_148201.1:n.1399G>A (SGSH)
NR_148201.2:n.1332G>A (SGSH)
ENST00000326317.10:c.1418G>A (SGSH)	ENSP00000314606.6:p.Trp473Ter
ENST00000572257.5:c.551+1528G>A (SGSH)
ENST00000573150.5:c.*628G>A (SGSH)	ENSP00000459280.1:n.*628G>A
ENST00000575282.5:n.4301G>A (SGSH)
ENST00000576856.1:c.672G>A (SGSH)	ENSP00000460720.1:n.672G>A
ENST00000703570.1:n.2844+1285C>T (CARD14)
XM_005257583.3:c.949+1528G>A (SGSH)	XP_005257640.1:n.949+1528G>A
XM_005257583.4:c.949+1528G>A (SGSH)	XP_005257640.1:n.949+1528G>A
XM_017024952.1:c.*1322G>A (SGSH)	XP_016880441.1:n.*1322G>A
XR_001752585.1:n.1438G>A (SGSH)
XR_001752586.1:n.969+1528G>A (SGSH)
XR_001752587.1:n.969+1528G>A (SGSH)
XR_001752588.1:n.969+1528G>A (SGSH)
XR_001752589.1:n.969+1528G>A (SGSH)
XR_001752590.1:n.969+1528G>A (SGSH)
XR_001752591.1:n.969+1528G>A (SGSH)
XR_001752592.1:n.969+1528G>A (SGSH)
XR_002958057.1:n.1024+1326G>A (SGSH)