Canonical Allele Identifier: CA401362524

Gene: CARD14 SGSH

Linked Data

• gnomAD v4: 17-80214636-A-T
• MyVariant Identifiers: chr17:g.78188435A>T (hg19) ; chr17:g.80214636A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80214636A>T , CM000679.2:g.80214636A>T	GRCh38
NC_000017.10:g.78188435A>T , CM000679.1:g.78188435A>T	GRCh37
NC_000017.9:g.75803030A>T	NCBI36
NG_008229.1:g.10765T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703570.1:n.2845-1230A>T (CARD14)
ENST00000326317.11:c.485T>A (SGSH) MANE Select	ENSP00000314606.6:p.Phe162Tyr
ENST00000326317.10:c.485T>A (SGSH)	ENSP00000314606.6:p.Phe162Tyr
ENST00000570427.1:c.503T>A (SGSH)	ENSP00000459765.1:p.Phe168Tyr
ENST00000570923.1:c.520T>A (SGSH)	ENSP00000458200.1:p.Ser174Thr
ENST00000571051.5:n.376-308T>A (SGSH)
ENST00000571675.5:n.505T>A (SGSH)
ENST00000572208.5:n.374-308T>A (SGSH)
ENST00000572257.5:c.87T>A (SGSH)
ENST00000573150.5:c.379T>A (SGSH)	ENSP00000459280.1:p.Ser127Thr
ENST00000574505.5:c.344T>A (SGSH)
ENST00000575282.5:n.494T>A (SGSH)
ENST00000576707.5:c.224T>A (SGSH)	ENSP00000461128.1:p.Phe75Tyr
ENST00000576941.5:c.250-308T>A (SGSH)	ENSP00000461160.1:n.250-308T>A
NM_000199.3:c.485T>A (SGSH)	NP_000190.1:p.Phe162Tyr
XM_005257582.2:c.485T>A (SGSH)	XP_005257639.1:p.Phe162Tyr
XM_005257583.3:c.485T>A (SGSH)	XP_005257640.1:p.Phe162Tyr
XM_011525126.1:c.485T>A (SGSH)	XP_011523428.1:p.Phe162Tyr
XM_011525127.1:c.485T>A (SGSH)	XP_011523429.1:p.Phe162Tyr
XR_934532.1:n.505T>A (SGSH)
NM_000199.4:c.485T>A (SGSH)	NP_000190.1:p.Phe162Tyr
NM_001352921.1:c.485T>A (SGSH)	NP_001339850.1:p.Phe162Tyr
NM_001352922.1:c.485T>A (SGSH)	NP_001339851.1:p.Phe162Tyr
NR_148201.1:n.466T>A (SGSH)
XM_005257583.4:c.485T>A (SGSH)	XP_005257640.1:p.Phe162Tyr
XM_017024952.1:c.485T>A (SGSH)	XP_016880441.1:p.Phe162Tyr
XR_001752585.1:n.505T>A (SGSH)
XR_001752586.1:n.505T>A (SGSH)
XR_001752587.1:n.505T>A (SGSH)
XR_001752588.1:n.505T>A (SGSH)
XR_001752589.1:n.505T>A (SGSH)
XR_001752590.1:n.505T>A (SGSH)
XR_001752591.1:n.505T>A (SGSH)
XR_001752592.1:n.505T>A (SGSH)
XR_002958057.1:n.505T>A (SGSH)
XR_934532.2:n.505T>A (SGSH)
NM_000199.5:c.485T>A (SGSH) MANE Select	NP_000190.1:p.Phe162Tyr
NM_001352921.2:c.485T>A (SGSH)	NP_001339850.1:p.Phe162Tyr
NM_001352922.2:c.485T>A (SGSH)	NP_001339851.1:p.Phe162Tyr
NR_148201.2:n.399T>A (SGSH)
NM_001352921.3:c.485T>A (SGSH)	NP_001339850.1:p.Phe162Tyr