Canonical Allele Identifier: CA8817646

Gene: CARD14 SGSH

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80210751C>T , CM000679.2:g.80210751C>T	GRCh38
NC_000017.10:g.78184550C>T , CM000679.1:g.78184550C>T	GRCh37
NC_000017.9:g.75799145C>T	NCBI36
NG_008229.1:g.14650G>A
NG_032778.1:g.45760C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000199.5:c.1210G>A (SGSH) MANE Select	NP_000190.1:p.Val404Ile
ENST00000326317.11:c.1210G>A (SGSH) MANE Select	ENSP00000314606.6:p.Val404Ile
NM_000199.3:c.1210G>A (SGSH)	NP_000190.1:p.Val404Ile
NM_000199.4:c.1210G>A (SGSH)	NP_000190.1:p.Val404Ile
NM_001352921.1:c.*297G>A (SGSH)	NP_001339850.1:n.*297G>A
NM_001352921.2:c.*297G>A (SGSH)	NP_001339850.1:n.*297G>A
NM_001352921.3:c.*297G>A (SGSH)	NP_001339850.1:n.*297G>A
NM_001352922.1:c.*260G>A (SGSH)	NP_001339851.1:n.*260G>A
NM_001352922.2:c.*260G>A (SGSH)	NP_001339851.1:n.*260G>A
NR_148201.1:n.1191G>A (SGSH)
NR_148201.2:n.1124G>A (SGSH)
ENST00000326317.10:c.1210G>A (SGSH)	ENSP00000314606.6:p.Val404Ile
ENST00000572257.5:c.551+1320G>A (SGSH)
ENST00000573150.5:c.*420G>A (SGSH)	ENSP00000459280.1:n.*420G>A
ENST00000575282.5:n.4093G>A (SGSH)
ENST00000576856.1:c.464G>A (SGSH)	ENSP00000460720.1:n.464G>A
ENST00000703570.1:n.2844+1493C>T (CARD14)
XM_005257583.3:c.949+1320G>A (SGSH)	XP_005257640.1:n.949+1320G>A
XM_005257583.4:c.949+1320G>A (SGSH)	XP_005257640.1:n.949+1320G>A
XM_017024952.1:c.*1114G>A (SGSH)	XP_016880441.1:n.*1114G>A
XR_001752585.1:n.1230G>A (SGSH)
XR_001752586.1:n.969+1320G>A (SGSH)
XR_001752587.1:n.969+1320G>A (SGSH)
XR_001752588.1:n.969+1320G>A (SGSH)
XR_001752589.1:n.969+1320G>A (SGSH)
XR_001752590.1:n.969+1320G>A (SGSH)
XR_001752591.1:n.969+1320G>A (SGSH)
XR_001752592.1:n.969+1320G>A (SGSH)
XR_002958057.1:n.1024+1118G>A (SGSH)