Canonical Allele Identifier: CA2640308174

Gene: CARD14 SGSH

Linked Data

• gnomAD v4: 17-80211943-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80211943G>T , CM000679.2:g.80211943G>T	GRCh38
NC_000017.10:g.78185742G>T , CM000679.1:g.78185742G>T	GRCh37
NC_000017.9:g.75800337G>T	NCBI36
NG_008229.1:g.13458C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000703570.1:n.2844+2685G>T (CARD14)
ENST00000326317.11:c.949+128C>A (SGSH) MANE Select	ENSP00000314606.6:n.949+128C>A
ENST00000326317.10:c.949+128C>A (SGSH)	ENSP00000314606.6:n.949+128C>A
ENST00000570923.1:c.*287C>A (SGSH)	ENSP00000458200.1:n.*287C>A
ENST00000572257.5:c.551+128C>A (SGSH)
ENST00000573150.5:c.*159+128C>A (SGSH)	ENSP00000459280.1:n.*159+128C>A
ENST00000575282.5:n.2901C>A (SGSH)
ENST00000576856.1:c.149-20C>A (SGSH)	ENSP00000460720.1:n.149-20C>A
NM_000199.3:c.949+128C>A (SGSH)	NP_000190.1:n.949+128C>A
XM_005257582.2:c.949+128C>A (SGSH)	XP_005257639.1:n.949+128C>A
XM_005257583.3:c.949+128C>A (SGSH)	XP_005257640.1:n.949+128C>A
XM_011525126.1:c.950-20C>A (SGSH)	XP_011523428.1:n.950-20C>A
XM_011525127.1:c.950-20C>A (SGSH)	XP_011523429.1:n.950-20C>A
XR_934532.1:n.1097C>A (SGSH)
NM_000199.4:c.949+128C>A (SGSH)	NP_000190.1:n.949+128C>A
NM_001352921.1:c.949+128C>A (SGSH)	NP_001339850.1:n.949+128C>A
NM_001352922.1:c.950-20C>A (SGSH)	NP_001339851.1:n.950-20C>A
NR_148201.1:n.930+128C>A (SGSH)
XM_005257583.4:c.949+128C>A (SGSH)	XP_005257640.1:n.949+128C>A
XM_017024952.1:c.950-20C>A (SGSH)	XP_016880441.1:n.950-20C>A
XR_001752585.1:n.969+128C>A (SGSH)
XR_001752586.1:n.969+128C>A (SGSH)
XR_001752587.1:n.969+128C>A (SGSH)
XR_001752588.1:n.969+128C>A (SGSH)
XR_001752589.1:n.969+128C>A (SGSH)
XR_001752590.1:n.969+128C>A (SGSH)
XR_001752591.1:n.969+128C>A (SGSH)
XR_001752592.1:n.969+128C>A (SGSH)
XR_002958057.1:n.970-20C>A (SGSH)
XR_934532.2:n.1097C>A (SGSH)
NM_000199.5:c.949+128C>A (SGSH) MANE Select	NP_000190.1:n.949+128C>A
NM_001352921.2:c.949+128C>A (SGSH)	NP_001339850.1:n.949+128C>A
NM_001352922.2:c.950-20C>A (SGSH)	NP_001339851.1:n.950-20C>A
NR_148201.2:n.863+128C>A (SGSH)
NM_001352921.3:c.949+128C>A (SGSH)	NP_001339850.1:n.949+128C>A