Canonical Allele Identifier: CA2640318941

Gene: CARD14 SGSH

Linked Data

• gnomAD v4: 17-80210106-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80210106A>T , CM000679.2:g.80210106A>T	GRCh38
NC_000017.10:g.78183905A>T , CM000679.1:g.78183905A>T	GRCh37
NC_000017.9:g.75798500A>T	NCBI36
NG_008229.1:g.15295T>A
NG_032778.1:g.45115A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703570.1:n.2844+848A>T (CARD14)
ENST00000326317.11:c.*346T>A (SGSH) MANE Select	ENSP00000314606.6:n.*346T>A
ENST00000326317.10:c.*346T>A (SGSH)	ENSP00000314606.6:n.*346T>A
ENST00000572257.5:c.551+1965T>A (SGSH)
ENST00000573150.5:c.*1065T>A (SGSH)	ENSP00000459280.1:n.*1065T>A
ENST00000575282.5:n.4738T>A (SGSH)
NM_000199.3:c.*346T>A (SGSH)	NP_000190.1:n.*346T>A
XM_005257583.3:c.949+1965T>A (SGSH)	XP_005257640.1:n.949+1965T>A
NM_000199.4:c.*346T>A (SGSH)	NP_000190.1:n.*346T>A
NM_001352921.1:c.*942T>A (SGSH)	NP_001339850.1:n.*942T>A
NM_001352922.1:c.*905T>A (SGSH)	NP_001339851.1:n.*905T>A
NR_148201.1:n.1836T>A (SGSH)
XM_005257583.4:c.949+1965T>A (SGSH)	XP_005257640.1:n.949+1965T>A
XM_017024952.1:c.*1759T>A (SGSH)	XP_016880441.1:n.*1759T>A
XR_001752585.1:n.1875T>A (SGSH)
XR_001752586.1:n.969+1965T>A (SGSH)
XR_001752587.1:n.969+1965T>A (SGSH)
XR_001752588.1:n.969+1965T>A (SGSH)
XR_001752589.1:n.969+1965T>A (SGSH)
XR_001752590.1:n.969+1965T>A (SGSH)
XR_001752591.1:n.969+1965T>A (SGSH)
XR_001752592.1:n.969+1965T>A (SGSH)
XR_002958057.1:n.1024+1763T>A (SGSH)
NM_000199.5:c.*346T>A (SGSH) MANE Select	NP_000190.1:n.*346T>A
NM_001352921.2:c.*942T>A (SGSH)	NP_001339850.1:n.*942T>A
NM_001352922.2:c.*905T>A (SGSH)	NP_001339851.1:n.*905T>A
NR_148201.2:n.1769T>A (SGSH)
NM_001352921.3:c.*942T>A (SGSH)	NP_001339850.1:n.*942T>A