Canonical Allele Identifier: CA401361598

Gene: CARD14 SGSH

Linked Data

• MyVariant Identifiers: chr17:g.78187683A>C (hg19) ; chr17:g.80213884A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80213884A>C , CM000679.2:g.80213884A>C	GRCh38
NC_000017.10:g.78187683A>C , CM000679.1:g.78187683A>C	GRCh37
NC_000017.9:g.75802278A>C	NCBI36
NG_008229.1:g.11517T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000703570.1:n.2845-1982A>C (CARD14)
ENST00000326317.11:c.665T>G (SGSH) MANE Select	ENSP00000314606.6:p.Val222Gly
ENST00000326317.10:c.665T>G (SGSH)	ENSP00000314606.6:p.Val222Gly
ENST00000570923.1:c.700T>G (SGSH)	ENSP00000458200.1:p.Cys234Gly
ENST00000572208.5:n.532T>G (SGSH)
ENST00000572257.5:c.267T>G (SGSH)
ENST00000573150.5:c.559T>G (SGSH)	ENSP00000459280.1:p.Cys187Gly
ENST00000574505.5:c.524T>G (SGSH)
ENST00000575282.5:n.960T>G (SGSH)
ENST00000576941.5:c.*81T>G (SGSH)	ENSP00000461160.1:n.*81T>G
NM_000199.3:c.665T>G (SGSH)	NP_000190.1:p.Val222Gly
XM_005257582.2:c.665T>G (SGSH)	XP_005257639.1:p.Val222Gly
XM_005257583.3:c.665T>G (SGSH)	XP_005257640.1:p.Val222Gly
XM_011525126.1:c.665T>G (SGSH)	XP_011523428.1:p.Val222Gly
XM_011525127.1:c.665T>G (SGSH)	XP_011523429.1:p.Val222Gly
XR_934532.1:n.685T>G (SGSH)
NM_000199.4:c.665T>G (SGSH)	NP_000190.1:p.Val222Gly
NM_001352921.1:c.665T>G (SGSH)	NP_001339850.1:p.Val222Gly
NM_001352922.1:c.665T>G (SGSH)	NP_001339851.1:p.Val222Gly
NR_148201.1:n.646T>G (SGSH)
XM_005257583.4:c.665T>G (SGSH)	XP_005257640.1:p.Val222Gly
XM_017024952.1:c.665T>G (SGSH)	XP_016880441.1:p.Val222Gly
XR_001752585.1:n.685T>G (SGSH)
XR_001752586.1:n.685T>G (SGSH)
XR_001752587.1:n.685T>G (SGSH)
XR_001752588.1:n.685T>G (SGSH)
XR_001752589.1:n.685T>G (SGSH)
XR_001752590.1:n.685T>G (SGSH)
XR_001752591.1:n.685T>G (SGSH)
XR_001752592.1:n.685T>G (SGSH)
XR_002958057.1:n.685T>G (SGSH)
XR_934532.2:n.685T>G (SGSH)
NM_000199.5:c.665T>G (SGSH) MANE Select	NP_000190.1:p.Val222Gly
NM_001352921.2:c.665T>G (SGSH)	NP_001339850.1:p.Val222Gly
NM_001352922.2:c.665T>G (SGSH)	NP_001339851.1:p.Val222Gly
NR_148201.2:n.579T>G (SGSH)
NM_001352921.3:c.665T>G (SGSH)	NP_001339850.1:p.Val222Gly