Canonical Allele Identifier: CA401359403

Gene: CARD14 SGSH

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80210986C>G , CM000679.2:g.80210986C>G	GRCh38
NC_000017.10:g.78184785C>G , CM000679.1:g.78184785C>G	GRCh37
NC_000017.9:g.75799380C>G	NCBI36
NG_008229.1:g.14415G>C
NG_032778.1:g.45995C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000199.5:c.975G>C (SGSH) MANE Select	NP_000190.1:p.Trp325Cys
ENST00000326317.11:c.975G>C (SGSH) MANE Select	ENSP00000314606.6:p.Trp325Cys
NM_000199.3:c.975G>C (SGSH)	NP_000190.1:p.Trp325Cys
NM_000199.4:c.975G>C (SGSH)	NP_000190.1:p.Trp325Cys
NM_001352921.1:c.*62G>C (SGSH)	NP_001339850.1:n.*62G>C
NM_001352921.2:c.*62G>C (SGSH)	NP_001339850.1:n.*62G>C
NM_001352921.3:c.*62G>C (SGSH)	NP_001339850.1:n.*62G>C
NM_001352922.1:c.*25G>C (SGSH)	NP_001339851.1:n.*25G>C
NM_001352922.2:c.*25G>C (SGSH)	NP_001339851.1:n.*25G>C
NR_148201.1:n.956G>C (SGSH)
NR_148201.2:n.889G>C (SGSH)
ENST00000326317.10:c.975G>C (SGSH)	ENSP00000314606.6:p.Trp325Cys
ENST00000572257.5:c.551+1085G>C (SGSH)
ENST00000573150.5:c.*185G>C (SGSH)	ENSP00000459280.1:n.*185G>C
ENST00000575282.5:n.3858G>C (SGSH)
ENST00000576856.1:c.229G>C (SGSH)	ENSP00000460720.1:n.229G>C
ENST00000703570.1:n.2844+1728C>G (CARD14)
XM_005257582.2:c.*62G>C (SGSH)	XP_005257639.1:n.*62G>C
XM_005257583.3:c.949+1085G>C (SGSH)	XP_005257640.1:n.949+1085G>C
XM_005257583.4:c.949+1085G>C (SGSH)	XP_005257640.1:n.949+1085G>C
XM_011525127.1:c.*25G>C (SGSH)	XP_011523429.1:n.*25G>C
XM_017024952.1:c.*879G>C (SGSH)	XP_016880441.1:n.*879G>C
XR_001752585.1:n.995G>C (SGSH)
XR_001752586.1:n.969+1085G>C (SGSH)
XR_001752587.1:n.969+1085G>C (SGSH)
XR_001752588.1:n.969+1085G>C (SGSH)
XR_001752589.1:n.969+1085G>C (SGSH)
XR_001752590.1:n.969+1085G>C (SGSH)
XR_001752591.1:n.969+1085G>C (SGSH)
XR_001752592.1:n.969+1085G>C (SGSH)
XR_002958057.1:n.1024+883G>C (SGSH)