Canonical Allele Identifier: CA502404746

Gene: CARD14 SGSH

Linked Data

• MyVariant Identifiers: chr17:g.78185928T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80212129T>A , CM000679.2:g.80212129T>A	GRCh38
NC_000017.10:g.78185928T>A , CM000679.1:g.78185928T>A	GRCh37
NC_000017.9:g.75800523T>A	NCBI36
NG_008229.1:g.13272A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000703570.1:n.2844+2871T>A (CARD14)
ENST00000326317.11:c.891A>T (SGSH) MANE Select	ENSP00000314606.6:p.Ser297=
ENST00000326317.10:c.891A>T (SGSH)	ENSP00000314606.6:p.Ser297=
ENST00000570923.1:c.*101A>T (SGSH)	ENSP00000458200.1:n.*101A>T
ENST00000572257.5:c.493A>T (SGSH)
ENST00000573150.5:c.*101A>T (SGSH)	ENSP00000459280.1:n.*101A>T
ENST00000575282.5:n.2715A>T (SGSH)
ENST00000576856.1:c.90A>T (SGSH)	ENSP00000460720.1:p.Ser30=
NM_000199.3:c.891A>T (SGSH)	NP_000190.1:p.Ser297=
XM_005257582.2:c.891A>T (SGSH)	XP_005257639.1:p.Ser297=
XM_005257583.3:c.891A>T (SGSH)	XP_005257640.1:p.Ser297=
XM_011525126.1:c.891A>T (SGSH)	XP_011523428.1:p.Ser297=
XM_011525127.1:c.891A>T (SGSH)	XP_011523429.1:p.Ser297=
XR_934532.1:n.911A>T (SGSH)
NM_000199.4:c.891A>T (SGSH)	NP_000190.1:p.Ser297=
NM_001352921.1:c.891A>T (SGSH)	NP_001339850.1:p.Ser297=
NM_001352922.1:c.891A>T (SGSH)	NP_001339851.1:p.Ser297=
NR_148201.1:n.872A>T (SGSH)
XM_005257583.4:c.891A>T (SGSH)	XP_005257640.1:p.Ser297=
XM_017024952.1:c.891A>T (SGSH)	XP_016880441.1:p.Ser297=
XR_001752585.1:n.911A>T (SGSH)
XR_001752586.1:n.911A>T (SGSH)
XR_001752587.1:n.911A>T (SGSH)
XR_001752588.1:n.911A>T (SGSH)
XR_001752589.1:n.911A>T (SGSH)
XR_001752590.1:n.911A>T (SGSH)
XR_001752591.1:n.911A>T (SGSH)
XR_001752592.1:n.911A>T (SGSH)
XR_002958057.1:n.911A>T (SGSH)
XR_934532.2:n.911A>T (SGSH)
NM_000199.5:c.891A>T (SGSH) MANE Select	NP_000190.1:p.Ser297=
NM_001352921.2:c.891A>T (SGSH)	NP_001339850.1:p.Ser297=
NM_001352922.2:c.891A>T (SGSH)	NP_001339851.1:p.Ser297=
NR_148201.2:n.805A>T (SGSH)
NM_001352921.3:c.891A>T (SGSH)	NP_001339850.1:p.Ser297=