Canonical Allele Identifier: CA401362862

Gene: CARD14 SGSH

Linked Data

• gnomAD v4: 17-80214693-C-A
• MyVariant Identifiers: chr17:g.78188492C>A (hg19) ; chr17:g.80214693C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80214693C>A , CM000679.2:g.80214693C>A	GRCh38
NC_000017.10:g.78188492C>A , CM000679.1:g.78188492C>A	GRCh37
NC_000017.9:g.75803087C>A	NCBI36
NG_008229.1:g.10708G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703570.1:n.2845-1173C>A (CARD14)
ENST00000326317.11:c.428G>T (SGSH) MANE Select	ENSP00000314606.6:p.Gly143Val
ENST00000326317.10:c.428G>T (SGSH)	ENSP00000314606.6:p.Gly143Val
ENST00000570427.1:c.446G>T (SGSH)	ENSP00000459765.1:p.Gly149Val
ENST00000570923.1:c.463G>T (SGSH)	ENSP00000458200.1:p.Ala155Ser
ENST00000571051.5:n.375+340G>T (SGSH)
ENST00000571675.5:n.448G>T (SGSH)
ENST00000572208.5:n.373+340G>T (SGSH)
ENST00000572257.5:c.30G>T (SGSH)
ENST00000573150.5:c.322G>T (SGSH)	ENSP00000459280.1:p.Ala108Ser
ENST00000574505.5:c.301-14G>T (SGSH)
ENST00000575282.5:n.437G>T (SGSH)
ENST00000576707.5:c.167G>T (SGSH)	ENSP00000461128.1:p.Gly56Val
ENST00000576941.5:c.250-365G>T (SGSH)	ENSP00000461160.1:n.250-365G>T
NM_000199.3:c.428G>T (SGSH)	NP_000190.1:p.Gly143Val
XM_005257582.2:c.428G>T (SGSH)	XP_005257639.1:p.Gly143Val
XM_005257583.3:c.428G>T (SGSH)	XP_005257640.1:p.Gly143Val
XM_011525126.1:c.428G>T (SGSH)	XP_011523428.1:p.Gly143Val
XM_011525127.1:c.428G>T (SGSH)	XP_011523429.1:p.Gly143Val
XR_934532.1:n.448G>T (SGSH)
NM_000199.4:c.428G>T (SGSH)	NP_000190.1:p.Gly143Val
NM_001352921.1:c.428G>T (SGSH)	NP_001339850.1:p.Gly143Val
NM_001352922.1:c.428G>T (SGSH)	NP_001339851.1:p.Gly143Val
NR_148201.1:n.409G>T (SGSH)
XM_005257583.4:c.428G>T (SGSH)	XP_005257640.1:p.Gly143Val
XM_017024952.1:c.428G>T (SGSH)	XP_016880441.1:p.Gly143Val
XR_001752585.1:n.448G>T (SGSH)
XR_001752586.1:n.448G>T (SGSH)
XR_001752587.1:n.448G>T (SGSH)
XR_001752588.1:n.448G>T (SGSH)
XR_001752589.1:n.448G>T (SGSH)
XR_001752590.1:n.448G>T (SGSH)
XR_001752591.1:n.448G>T (SGSH)
XR_001752592.1:n.448G>T (SGSH)
XR_002958057.1:n.448G>T (SGSH)
XR_934532.2:n.448G>T (SGSH)
NM_000199.5:c.428G>T (SGSH) MANE Select	NP_000190.1:p.Gly143Val
NM_001352921.2:c.428G>T (SGSH)	NP_001339850.1:p.Gly143Val
NM_001352922.2:c.428G>T (SGSH)	NP_001339851.1:p.Gly143Val
NR_148201.2:n.342G>T (SGSH)
NM_001352921.3:c.428G>T (SGSH)	NP_001339850.1:p.Gly143Val