Canonical Allele Identifier: CA8817668

Gene: CARD14 SGSH

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80210831C>T , CM000679.2:g.80210831C>T	GRCh38
NC_000017.10:g.78184630C>T , CM000679.1:g.78184630C>T	GRCh37
NC_000017.9:g.75799225C>T	NCBI36
NG_008229.1:g.14570G>A
NG_032778.1:g.45840C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000199.5:c.1130G>A (SGSH) MANE Select	NP_000190.1:p.Arg377His
ENST00000326317.11:c.1130G>A (SGSH) MANE Select	ENSP00000314606.6:p.Arg377His
NM_000199.3:c.1130G>A (SGSH)	NP_000190.1:p.Arg377His
NM_000199.4:c.1130G>A (SGSH)	NP_000190.1:p.Arg377His
NM_001352921.1:c.*217G>A (SGSH)	NP_001339850.1:n.*217G>A
NM_001352921.2:c.*217G>A (SGSH)	NP_001339850.1:n.*217G>A
NM_001352921.3:c.*217G>A (SGSH)	NP_001339850.1:n.*217G>A
NM_001352922.1:c.*180G>A (SGSH)	NP_001339851.1:n.*180G>A
NM_001352922.2:c.*180G>A (SGSH)	NP_001339851.1:n.*180G>A
NR_148201.1:n.1111G>A (SGSH)
NR_148201.2:n.1044G>A (SGSH)
ENST00000326317.10:c.1130G>A (SGSH)	ENSP00000314606.6:p.Arg377His
ENST00000572257.5:c.551+1240G>A (SGSH)
ENST00000573150.5:c.*340G>A (SGSH)	ENSP00000459280.1:n.*340G>A
ENST00000575282.5:n.4013G>A (SGSH)
ENST00000576856.1:c.384G>A (SGSH)	ENSP00000460720.1:n.384G>A
ENST00000703570.1:n.2844+1573C>T (CARD14)
XM_005257583.3:c.949+1240G>A (SGSH)	XP_005257640.1:n.949+1240G>A
XM_005257583.4:c.949+1240G>A (SGSH)	XP_005257640.1:n.949+1240G>A
XM_017024952.1:c.*1034G>A (SGSH)	XP_016880441.1:n.*1034G>A
XR_001752585.1:n.1150G>A (SGSH)
XR_001752586.1:n.969+1240G>A (SGSH)
XR_001752587.1:n.969+1240G>A (SGSH)
XR_001752588.1:n.969+1240G>A (SGSH)
XR_001752589.1:n.969+1240G>A (SGSH)
XR_001752590.1:n.969+1240G>A (SGSH)
XR_001752591.1:n.969+1240G>A (SGSH)
XR_001752592.1:n.969+1240G>A (SGSH)
XR_002958057.1:n.1024+1038G>A (SGSH)