Canonical Allele Identifier: CA401358645

Gene: CARD14 SGSH

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80210621T>C , CM000679.2:g.80210621T>C	GRCh38
NC_000017.10:g.78184420T>C , CM000679.1:g.78184420T>C	GRCh37
NC_000017.9:g.75799015T>C	NCBI36
NG_008229.1:g.14780A>G
NG_032778.1:g.45630T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000199.5:c.1340A>G (SGSH) MANE Select	NP_000190.1:p.Glu447Gly
ENST00000326317.11:c.1340A>G (SGSH) MANE Select	ENSP00000314606.6:p.Glu447Gly
NM_000199.3:c.1340A>G (SGSH)	NP_000190.1:p.Glu447Gly
NM_000199.4:c.1340A>G (SGSH)	NP_000190.1:p.Glu447Gly
NM_001352921.1:c.*427A>G (SGSH)	NP_001339850.1:n.*427A>G
NM_001352921.2:c.*427A>G (SGSH)	NP_001339850.1:n.*427A>G
NM_001352921.3:c.*427A>G (SGSH)	NP_001339850.1:n.*427A>G
NM_001352922.1:c.*390A>G (SGSH)	NP_001339851.1:n.*390A>G
NM_001352922.2:c.*390A>G (SGSH)	NP_001339851.1:n.*390A>G
NR_148201.1:n.1321A>G (SGSH)
NR_148201.2:n.1254A>G (SGSH)
ENST00000326317.10:c.1340A>G (SGSH)	ENSP00000314606.6:p.Glu447Gly
ENST00000572257.5:c.551+1450A>G (SGSH)
ENST00000573150.5:c.*550A>G (SGSH)	ENSP00000459280.1:n.*550A>G
ENST00000575282.5:n.4223A>G (SGSH)
ENST00000576856.1:c.594A>G (SGSH)	ENSP00000460720.1:n.594A>G
ENST00000703570.1:n.2844+1363T>C (CARD14)
XM_005257583.3:c.949+1450A>G (SGSH)	XP_005257640.1:n.949+1450A>G
XM_005257583.4:c.949+1450A>G (SGSH)	XP_005257640.1:n.949+1450A>G
XM_017024952.1:c.*1244A>G (SGSH)	XP_016880441.1:n.*1244A>G
XR_001752585.1:n.1360A>G (SGSH)
XR_001752586.1:n.969+1450A>G (SGSH)
XR_001752587.1:n.969+1450A>G (SGSH)
XR_001752588.1:n.969+1450A>G (SGSH)
XR_001752589.1:n.969+1450A>G (SGSH)
XR_001752590.1:n.969+1450A>G (SGSH)
XR_001752591.1:n.969+1450A>G (SGSH)
XR_001752592.1:n.969+1450A>G (SGSH)
XR_002958057.1:n.1024+1248A>G (SGSH)