Canonical Allele Identifier: CA2640319040

Gene: CARD14 SGSH

Linked Data

• gnomAD v4: 17-80210128-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80210128G>C , CM000679.2:g.80210128G>C	GRCh38
NC_000017.10:g.78183927G>C , CM000679.1:g.78183927G>C	GRCh37
NC_000017.9:g.75798522G>C	NCBI36
NG_008229.1:g.15273C>G
NG_032778.1:g.45137G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703570.1:n.2844+870G>C (CARD14)
ENST00000326317.11:c.*324C>G (SGSH) MANE Select	ENSP00000314606.6:n.*324C>G
ENST00000326317.10:c.*324C>G (SGSH)	ENSP00000314606.6:n.*324C>G
ENST00000572257.5:c.551+1943C>G (SGSH)
ENST00000573150.5:c.*1043C>G (SGSH)	ENSP00000459280.1:n.*1043C>G
ENST00000575282.5:n.4716C>G (SGSH)
NM_000199.3:c.*324C>G (SGSH)	NP_000190.1:n.*324C>G
XM_005257583.3:c.949+1943C>G (SGSH)	XP_005257640.1:n.949+1943C>G
NM_000199.4:c.*324C>G (SGSH)	NP_000190.1:n.*324C>G
NM_001352921.1:c.*920C>G (SGSH)	NP_001339850.1:n.*920C>G
NM_001352922.1:c.*883C>G (SGSH)	NP_001339851.1:n.*883C>G
NR_148201.1:n.1814C>G (SGSH)
XM_005257583.4:c.949+1943C>G (SGSH)	XP_005257640.1:n.949+1943C>G
XM_017024952.1:c.*1737C>G (SGSH)	XP_016880441.1:n.*1737C>G
XR_001752585.1:n.1853C>G (SGSH)
XR_001752586.1:n.969+1943C>G (SGSH)
XR_001752587.1:n.969+1943C>G (SGSH)
XR_001752588.1:n.969+1943C>G (SGSH)
XR_001752589.1:n.969+1943C>G (SGSH)
XR_001752590.1:n.969+1943C>G (SGSH)
XR_001752591.1:n.969+1943C>G (SGSH)
XR_001752592.1:n.969+1943C>G (SGSH)
XR_002958057.1:n.1024+1741C>G (SGSH)
NM_000199.5:c.*324C>G (SGSH) MANE Select	NP_000190.1:n.*324C>G
NM_001352921.2:c.*920C>G (SGSH)	NP_001339850.1:n.*920C>G
NM_001352922.2:c.*883C>G (SGSH)	NP_001339851.1:n.*883C>G
NR_148201.2:n.1747C>G (SGSH)
NM_001352921.3:c.*920C>G (SGSH)	NP_001339850.1:n.*920C>G