Canonical Allele Identifier: CA2640319648

Gene: CARD14 SGSH

Linked Data

• gnomAD v4: 17-80210307-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80210307C>A , CM000679.2:g.80210307C>A	GRCh38
NC_000017.10:g.78184106C>A , CM000679.1:g.78184106C>A	GRCh37
NC_000017.9:g.75798701C>A	NCBI36
NG_008229.1:g.15094G>T
NG_032778.1:g.45316C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703570.1:n.2844+1049C>A (CARD14)
ENST00000326317.11:c.*145G>T (SGSH) MANE Select	ENSP00000314606.6:n.*145G>T
ENST00000326317.10:c.*145G>T (SGSH)	ENSP00000314606.6:n.*145G>T
ENST00000572257.5:c.551+1764G>T (SGSH)
ENST00000573150.5:c.*864G>T (SGSH)	ENSP00000459280.1:n.*864G>T
ENST00000575282.5:n.4537G>T (SGSH)
NM_000199.3:c.*145G>T (SGSH)	NP_000190.1:n.*145G>T
XM_005257583.3:c.949+1764G>T (SGSH)	XP_005257640.1:n.949+1764G>T
NM_000199.4:c.*145G>T (SGSH)	NP_000190.1:n.*145G>T
NM_001352921.1:c.*741G>T (SGSH)	NP_001339850.1:n.*741G>T
NM_001352922.1:c.*704G>T (SGSH)	NP_001339851.1:n.*704G>T
NR_148201.1:n.1635G>T (SGSH)
XM_005257583.4:c.949+1764G>T (SGSH)	XP_005257640.1:n.949+1764G>T
XM_017024952.1:c.*1558G>T (SGSH)	XP_016880441.1:n.*1558G>T
XR_001752585.1:n.1674G>T (SGSH)
XR_001752586.1:n.969+1764G>T (SGSH)
XR_001752587.1:n.969+1764G>T (SGSH)
XR_001752588.1:n.969+1764G>T (SGSH)
XR_001752589.1:n.969+1764G>T (SGSH)
XR_001752590.1:n.969+1764G>T (SGSH)
XR_001752591.1:n.969+1764G>T (SGSH)
XR_001752592.1:n.969+1764G>T (SGSH)
XR_002958057.1:n.1024+1562G>T (SGSH)
NM_000199.5:c.*145G>T (SGSH) MANE Select	NP_000190.1:n.*145G>T
NM_001352921.2:c.*741G>T (SGSH)	NP_001339850.1:n.*741G>T
NM_001352922.2:c.*704G>T (SGSH)	NP_001339851.1:n.*704G>T
NR_148201.2:n.1568G>T (SGSH)
NM_001352921.3:c.*741G>T (SGSH)	NP_001339850.1:n.*741G>T