Canonical Allele Identifier: CA401359797

Gene: CARD14 SGSH

Linked Data

• MyVariant Identifiers: chr17:g.78185962T>A (hg19) ; chr17:g.80212163T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80212163T>A , CM000679.2:g.80212163T>A	GRCh38
NC_000017.10:g.78185962T>A , CM000679.1:g.78185962T>A	GRCh37
NC_000017.9:g.75800557T>A	NCBI36
NG_008229.1:g.13238A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000703570.1:n.2844+2905T>A (CARD14)
ENST00000326317.11:c.857A>T (SGSH) MANE Select	ENSP00000314606.6:p.Tyr286Phe
ENST00000326317.10:c.857A>T (SGSH)	ENSP00000314606.6:p.Tyr286Phe
ENST00000570923.1:c.*67A>T (SGSH)	ENSP00000458200.1:n.*67A>T
ENST00000572257.5:c.459A>T (SGSH)
ENST00000573150.5:c.*67A>T (SGSH)	ENSP00000459280.1:n.*67A>T
ENST00000575282.5:n.2681A>T (SGSH)
ENST00000576856.1:c.56A>T (SGSH)	ENSP00000460720.1:p.Tyr19Phe
NM_000199.3:c.857A>T (SGSH)	NP_000190.1:p.Tyr286Phe
XM_005257582.2:c.857A>T (SGSH)	XP_005257639.1:p.Tyr286Phe
XM_005257583.3:c.857A>T (SGSH)	XP_005257640.1:p.Tyr286Phe
XM_011525126.1:c.857A>T (SGSH)	XP_011523428.1:p.Tyr286Phe
XM_011525127.1:c.857A>T (SGSH)	XP_011523429.1:p.Tyr286Phe
XR_934532.1:n.877A>T (SGSH)
NM_000199.4:c.857A>T (SGSH)	NP_000190.1:p.Tyr286Phe
NM_001352921.1:c.857A>T (SGSH)	NP_001339850.1:p.Tyr286Phe
NM_001352922.1:c.857A>T (SGSH)	NP_001339851.1:p.Tyr286Phe
NR_148201.1:n.838A>T (SGSH)
XM_005257583.4:c.857A>T (SGSH)	XP_005257640.1:p.Tyr286Phe
XM_017024952.1:c.857A>T (SGSH)	XP_016880441.1:p.Tyr286Phe
XR_001752585.1:n.877A>T (SGSH)
XR_001752586.1:n.877A>T (SGSH)
XR_001752587.1:n.877A>T (SGSH)
XR_001752588.1:n.877A>T (SGSH)
XR_001752589.1:n.877A>T (SGSH)
XR_001752590.1:n.877A>T (SGSH)
XR_001752591.1:n.877A>T (SGSH)
XR_001752592.1:n.877A>T (SGSH)
XR_002958057.1:n.877A>T (SGSH)
XR_934532.2:n.877A>T (SGSH)
NM_000199.5:c.857A>T (SGSH) MANE Select	NP_000190.1:p.Tyr286Phe
NM_001352921.2:c.857A>T (SGSH)	NP_001339850.1:p.Tyr286Phe
NM_001352922.2:c.857A>T (SGSH)	NP_001339851.1:p.Tyr286Phe
NR_148201.2:n.771A>T (SGSH)
NM_001352921.3:c.857A>T (SGSH)	NP_001339850.1:p.Tyr286Phe