Canonical Allele Identifier: CA2640318997

Gene: CARD14 SGSH

Linked Data

• gnomAD v4: 17-80210118-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80210118C>A , CM000679.2:g.80210118C>A	GRCh38
NC_000017.10:g.78183917C>A , CM000679.1:g.78183917C>A	GRCh37
NC_000017.9:g.75798512C>A	NCBI36
NG_008229.1:g.15283G>T
NG_032778.1:g.45127C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703570.1:n.2844+860C>A (CARD14)
ENST00000326317.11:c.*334G>T (SGSH) MANE Select	ENSP00000314606.6:n.*334G>T
ENST00000326317.10:c.*334G>T (SGSH)	ENSP00000314606.6:n.*334G>T
ENST00000572257.5:c.551+1953G>T (SGSH)
ENST00000573150.5:c.*1053G>T (SGSH)	ENSP00000459280.1:n.*1053G>T
ENST00000575282.5:n.4726G>T (SGSH)
NM_000199.3:c.*334G>T (SGSH)	NP_000190.1:n.*334G>T
XM_005257583.3:c.949+1953G>T (SGSH)	XP_005257640.1:n.949+1953G>T
NM_000199.4:c.*334G>T (SGSH)	NP_000190.1:n.*334G>T
NM_001352921.1:c.*930G>T (SGSH)	NP_001339850.1:n.*930G>T
NM_001352922.1:c.*893G>T (SGSH)	NP_001339851.1:n.*893G>T
NR_148201.1:n.1824G>T (SGSH)
XM_005257583.4:c.949+1953G>T (SGSH)	XP_005257640.1:n.949+1953G>T
XM_017024952.1:c.*1747G>T (SGSH)	XP_016880441.1:n.*1747G>T
XR_001752585.1:n.1863G>T (SGSH)
XR_001752586.1:n.969+1953G>T (SGSH)
XR_001752587.1:n.969+1953G>T (SGSH)
XR_001752588.1:n.969+1953G>T (SGSH)
XR_001752589.1:n.969+1953G>T (SGSH)
XR_001752590.1:n.969+1953G>T (SGSH)
XR_001752591.1:n.969+1953G>T (SGSH)
XR_001752592.1:n.969+1953G>T (SGSH)
XR_002958057.1:n.1024+1751G>T (SGSH)
NM_000199.5:c.*334G>T (SGSH) MANE Select	NP_000190.1:n.*334G>T
NM_001352921.2:c.*930G>T (SGSH)	NP_001339850.1:n.*930G>T
NM_001352922.2:c.*893G>T (SGSH)	NP_001339851.1:n.*893G>T
NR_148201.2:n.1757G>T (SGSH)
NM_001352921.3:c.*930G>T (SGSH)	NP_001339850.1:n.*930G>T