Canonical Allele Identifier: CA2640319879

Gene: CARD14 SGSH

Linked Data

• gnomAD v4: 17-80210440-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80210440C>T , CM000679.2:g.80210440C>T	GRCh38
NC_000017.10:g.78184239C>T , CM000679.1:g.78184239C>T	GRCh37
NC_000017.9:g.75798834C>T	NCBI36
NG_008229.1:g.14961G>A
NG_032778.1:g.45449C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000703570.1:n.2844+1182C>T (CARD14)
ENST00000326317.11:c.*12G>A (SGSH) MANE Select	ENSP00000314606.6:n.*12G>A
ENST00000326317.10:c.*12G>A (SGSH)	ENSP00000314606.6:n.*12G>A
ENST00000572257.5:c.551+1631G>A (SGSH)
ENST00000573150.5:c.*731G>A (SGSH)	ENSP00000459280.1:n.*731G>A
ENST00000575282.5:n.4404G>A (SGSH)
ENST00000576856.1:c.775G>A (SGSH)	ENSP00000460720.1:n.775G>A
NM_000199.3:c.*12G>A (SGSH)	NP_000190.1:n.*12G>A
XM_005257583.3:c.949+1631G>A (SGSH)	XP_005257640.1:n.949+1631G>A
NM_000199.4:c.*12G>A (SGSH)	NP_000190.1:n.*12G>A
NM_001352921.1:c.*608G>A (SGSH)	NP_001339850.1:n.*608G>A
NM_001352922.1:c.*571G>A (SGSH)	NP_001339851.1:n.*571G>A
NR_148201.1:n.1502G>A (SGSH)
XM_005257583.4:c.949+1631G>A (SGSH)	XP_005257640.1:n.949+1631G>A
XM_017024952.1:c.*1425G>A (SGSH)	XP_016880441.1:n.*1425G>A
XR_001752585.1:n.1541G>A (SGSH)
XR_001752586.1:n.969+1631G>A (SGSH)
XR_001752587.1:n.969+1631G>A (SGSH)
XR_001752588.1:n.969+1631G>A (SGSH)
XR_001752589.1:n.969+1631G>A (SGSH)
XR_001752590.1:n.969+1631G>A (SGSH)
XR_001752591.1:n.969+1631G>A (SGSH)
XR_001752592.1:n.969+1631G>A (SGSH)
XR_002958057.1:n.1024+1429G>A (SGSH)
NM_000199.5:c.*12G>A (SGSH) MANE Select	NP_000190.1:n.*12G>A
NM_001352921.2:c.*608G>A (SGSH)	NP_001339850.1:n.*608G>A
NM_001352922.2:c.*571G>A (SGSH)	NP_001339851.1:n.*571G>A
NR_148201.2:n.1435G>A (SGSH)
NM_001352921.3:c.*608G>A (SGSH)	NP_001339850.1:n.*608G>A