Canonical Allele Identifier: CA2640319386

Gene: CARD14 SGSH

Linked Data

• gnomAD v4: 17-80210234-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80210234C>T , CM000679.2:g.80210234C>T	GRCh38
NC_000017.10:g.78184033C>T , CM000679.1:g.78184033C>T	GRCh37
NC_000017.9:g.75798628C>T	NCBI36
NG_008229.1:g.15167G>A
NG_032778.1:g.45243C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703570.1:n.2844+976C>T (CARD14)
ENST00000326317.11:c.*218G>A (SGSH) MANE Select	ENSP00000314606.6:n.*218G>A
ENST00000326317.10:c.*218G>A (SGSH)	ENSP00000314606.6:n.*218G>A
ENST00000572257.5:c.551+1837G>A (SGSH)
ENST00000573150.5:c.*937G>A (SGSH)	ENSP00000459280.1:n.*937G>A
ENST00000575282.5:n.4610G>A (SGSH)
NM_000199.3:c.*218G>A (SGSH)	NP_000190.1:n.*218G>A
XM_005257583.3:c.949+1837G>A (SGSH)	XP_005257640.1:n.949+1837G>A
NM_000199.4:c.*218G>A (SGSH)	NP_000190.1:n.*218G>A
NM_001352921.1:c.*814G>A (SGSH)	NP_001339850.1:n.*814G>A
NM_001352922.1:c.*777G>A (SGSH)	NP_001339851.1:n.*777G>A
NR_148201.1:n.1708G>A (SGSH)
XM_005257583.4:c.949+1837G>A (SGSH)	XP_005257640.1:n.949+1837G>A
XM_017024952.1:c.*1631G>A (SGSH)	XP_016880441.1:n.*1631G>A
XR_001752585.1:n.1747G>A (SGSH)
XR_001752586.1:n.969+1837G>A (SGSH)
XR_001752587.1:n.969+1837G>A (SGSH)
XR_001752588.1:n.969+1837G>A (SGSH)
XR_001752589.1:n.969+1837G>A (SGSH)
XR_001752590.1:n.969+1837G>A (SGSH)
XR_001752591.1:n.969+1837G>A (SGSH)
XR_001752592.1:n.969+1837G>A (SGSH)
XR_002958057.1:n.1024+1635G>A (SGSH)
NM_000199.5:c.*218G>A (SGSH) MANE Select	NP_000190.1:n.*218G>A
NM_001352921.2:c.*814G>A (SGSH)	NP_001339850.1:n.*814G>A
NM_001352922.2:c.*777G>A (SGSH)	NP_001339851.1:n.*777G>A
NR_148201.2:n.1641G>A (SGSH)
NM_001352921.3:c.*814G>A (SGSH)	NP_001339850.1:n.*814G>A