Canonical Allele Identifier: CA8817775

Gene: CARD14 SGSH

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80212222T>C , CM000679.2:g.80212222T>C	GRCh38
NC_000017.10:g.78186021T>C , CM000679.1:g.78186021T>C	GRCh37
NC_000017.9:g.75800616T>C	NCBI36
NG_008229.1:g.13179A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000199.5:c.798A>G (SGSH) MANE Select	NP_000190.1:p.Thr266=
ENST00000326317.11:c.798A>G (SGSH) MANE Select	ENSP00000314606.6:p.Thr266=
NM_000199.3:c.798A>G (SGSH)	NP_000190.1:p.Thr266=
NM_000199.4:c.798A>G (SGSH)	NP_000190.1:p.Thr266=
NM_001352921.1:c.798A>G (SGSH)	NP_001339850.1:p.Thr266=
NM_001352921.2:c.798A>G (SGSH)	NP_001339850.1:p.Thr266=
NM_001352921.3:c.798A>G (SGSH)	NP_001339850.1:p.Thr266=
NM_001352922.1:c.798A>G (SGSH)	NP_001339851.1:p.Thr266=
NM_001352922.2:c.798A>G (SGSH)	NP_001339851.1:p.Thr266=
NR_148201.1:n.779A>G (SGSH)
NR_148201.2:n.712A>G (SGSH)
ENST00000326317.10:c.798A>G (SGSH)	ENSP00000314606.6:p.Thr266=
ENST00000570923.1:c.*8A>G (SGSH)	ENSP00000458200.1:n.*8A>G
ENST00000572257.5:c.400A>G (SGSH)
ENST00000573150.5:c.*8A>G (SGSH)	ENSP00000459280.1:n.*8A>G
ENST00000575282.5:n.2622A>G (SGSH)
ENST00000576941.5:c.*214A>G (SGSH)	ENSP00000461160.1:n.*214A>G
ENST00000703570.1:n.2844+2964T>C (CARD14)
XM_005257582.2:c.798A>G (SGSH)	XP_005257639.1:p.Thr266=
XM_005257583.3:c.798A>G (SGSH)	XP_005257640.1:p.Thr266=
XM_005257583.4:c.798A>G (SGSH)	XP_005257640.1:p.Thr266=
XM_011525126.1:c.798A>G (SGSH)	XP_011523428.1:p.Thr266=
XM_011525127.1:c.798A>G (SGSH)	XP_011523429.1:p.Thr266=
XM_017024952.1:c.798A>G (SGSH)	XP_016880441.1:p.Thr266=
XR_001752585.1:n.818A>G (SGSH)
XR_001752586.1:n.818A>G (SGSH)
XR_001752587.1:n.818A>G (SGSH)
XR_001752588.1:n.818A>G (SGSH)
XR_001752589.1:n.818A>G (SGSH)
XR_001752590.1:n.818A>G (SGSH)
XR_001752591.1:n.818A>G (SGSH)
XR_001752592.1:n.818A>G (SGSH)
XR_002958057.1:n.818A>G (SGSH)
XR_934532.1:n.818A>G (SGSH)
XR_934532.2:n.818A>G (SGSH)