Canonical Allele Identifier: CA8817706

Gene: CARD14 SGSH

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80211009G>T , CM000679.2:g.80211009G>T	GRCh38
NC_000017.10:g.78184808G>T , CM000679.1:g.78184808G>T	GRCh37
NC_000017.9:g.75799403G>T	NCBI36
NG_008229.1:g.14392C>A
NG_032778.1:g.46018G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000199.5:c.952C>A (SGSH) MANE Select	NP_000190.1:p.Leu318Ile
ENST00000326317.11:c.952C>A (SGSH) MANE Select	ENSP00000314606.6:p.Leu318Ile
NM_000199.3:c.952C>A (SGSH)	NP_000190.1:p.Leu318Ile
NM_000199.4:c.952C>A (SGSH)	NP_000190.1:p.Leu318Ile
NM_001352921.1:c.*39C>A (SGSH)	NP_001339850.1:n.*39C>A
NM_001352921.2:c.*39C>A (SGSH)	NP_001339850.1:n.*39C>A
NM_001352921.3:c.*39C>A (SGSH)	NP_001339850.1:n.*39C>A
NM_001352922.1:c.*2C>A (SGSH)	NP_001339851.1:n.*2C>A
NM_001352922.2:c.*2C>A (SGSH)	NP_001339851.1:n.*2C>A
NR_148201.1:n.933C>A (SGSH)
NR_148201.2:n.866C>A (SGSH)
ENST00000326317.10:c.952C>A (SGSH)	ENSP00000314606.6:p.Leu318Ile
ENST00000572257.5:c.551+1062C>A (SGSH)
ENST00000573150.5:c.*162C>A (SGSH)	ENSP00000459280.1:n.*162C>A
ENST00000575282.5:n.3835C>A (SGSH)
ENST00000576856.1:c.206C>A (SGSH)	ENSP00000460720.1:n.206C>A
ENST00000703570.1:n.2844+1751G>T (CARD14)
XM_005257582.2:c.*39C>A (SGSH)	XP_005257639.1:n.*39C>A
XM_005257583.3:c.949+1062C>A (SGSH)	XP_005257640.1:n.949+1062C>A
XM_005257583.4:c.949+1062C>A (SGSH)	XP_005257640.1:n.949+1062C>A
XM_011525127.1:c.*2C>A (SGSH)	XP_011523429.1:n.*2C>A
XM_017024952.1:c.*856C>A (SGSH)	XP_016880441.1:n.*856C>A
XR_001752585.1:n.972C>A (SGSH)
XR_001752586.1:n.969+1062C>A (SGSH)
XR_001752587.1:n.969+1062C>A (SGSH)
XR_001752588.1:n.969+1062C>A (SGSH)
XR_001752589.1:n.969+1062C>A (SGSH)
XR_001752590.1:n.969+1062C>A (SGSH)
XR_001752591.1:n.969+1062C>A (SGSH)
XR_001752592.1:n.969+1062C>A (SGSH)
XR_002958057.1:n.1024+860C>A (SGSH)
XR_934532.1:n.1174C>A (SGSH)
XR_934532.2:n.1174C>A (SGSH)