Canonical Allele Identifier: CA2640319473

Gene: CARD14 SGSH

Linked Data

• gnomAD v4: 17-80210255-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80210255C>A , CM000679.2:g.80210255C>A	GRCh38
NC_000017.10:g.78184054C>A , CM000679.1:g.78184054C>A	GRCh37
NC_000017.9:g.75798649C>A	NCBI36
NG_008229.1:g.15146G>T
NG_032778.1:g.45264C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703570.1:n.2844+997C>A (CARD14)
ENST00000326317.11:c.*197G>T (SGSH) MANE Select	ENSP00000314606.6:n.*197G>T
ENST00000326317.10:c.*197G>T (SGSH)	ENSP00000314606.6:n.*197G>T
ENST00000572257.5:c.551+1816G>T (SGSH)
ENST00000573150.5:c.*916G>T (SGSH)	ENSP00000459280.1:n.*916G>T
ENST00000575282.5:n.4589G>T (SGSH)
NM_000199.3:c.*197G>T (SGSH)	NP_000190.1:n.*197G>T
XM_005257583.3:c.949+1816G>T (SGSH)	XP_005257640.1:n.949+1816G>T
NM_000199.4:c.*197G>T (SGSH)	NP_000190.1:n.*197G>T
NM_001352921.1:c.*793G>T (SGSH)	NP_001339850.1:n.*793G>T
NM_001352922.1:c.*756G>T (SGSH)	NP_001339851.1:n.*756G>T
NR_148201.1:n.1687G>T (SGSH)
XM_005257583.4:c.949+1816G>T (SGSH)	XP_005257640.1:n.949+1816G>T
XM_017024952.1:c.*1610G>T (SGSH)	XP_016880441.1:n.*1610G>T
XR_001752585.1:n.1726G>T (SGSH)
XR_001752586.1:n.969+1816G>T (SGSH)
XR_001752587.1:n.969+1816G>T (SGSH)
XR_001752588.1:n.969+1816G>T (SGSH)
XR_001752589.1:n.969+1816G>T (SGSH)
XR_001752590.1:n.969+1816G>T (SGSH)
XR_001752591.1:n.969+1816G>T (SGSH)
XR_001752592.1:n.969+1816G>T (SGSH)
XR_002958057.1:n.1024+1614G>T (SGSH)
NM_000199.5:c.*197G>T (SGSH) MANE Select	NP_000190.1:n.*197G>T
NM_001352921.2:c.*793G>T (SGSH)	NP_001339850.1:n.*793G>T
NM_001352922.2:c.*756G>T (SGSH)	NP_001339851.1:n.*756G>T
NR_148201.2:n.1620G>T (SGSH)
NM_001352921.3:c.*793G>T (SGSH)	NP_001339850.1:n.*793G>T