Canonical Allele Identifier: CA9927998

Gene: CTSZ

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58995705C>T , CM000682.2:g.58995705C>T	GRCh38
NC_000020.10:g.57570760C>T , CM000682.1:g.57570760C>T	GRCh37
NC_000020.9:g.57004155C>T	NCBI36
NG_023300.1:g.16550G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217131.6:c.856G>A MANE Select	ENSP00000217131.5:p.Ala286Thr
ENST00000488395.2:n.2678G>A
ENST00000679391.1:n.1765G>A
ENST00000679948.1:c.*868G>A	ENSP00000505895.1:n.*868G>A
ENST00000679991.1:n.851G>A
ENST00000680156.1:n.1922G>A
ENST00000680206.1:c.*36G>A	ENSP00000505861.1:n.*36G>A
ENST00000680263.1:c.801+934G>A	ENSP00000506111.1:n.801+934G>A
ENST00000680283.1:c.*473G>A	ENSP00000506675.1:n.*473G>A
ENST00000680300.1:c.*156G>A	ENSP00000505432.1:n.*156G>A
ENST00000680456.1:c.*479G>A	ENSP00000505693.1:n.*479G>A
ENST00000680565.1:c.*738G>A	ENSP00000505923.1:n.*738G>A
ENST00000680628.1:n.2053G>A
ENST00000680738.1:c.*101G>A	ENSP00000506672.1:n.*101G>A
ENST00000680753.1:c.801+934G>A	ENSP00000505409.1:n.801+934G>A
ENST00000680879.1:c.801+934G>A	ENSP00000505285.1:n.801+934G>A
ENST00000680995.1:c.949G>A	ENSP00000505169.1:p.Ala317Thr
ENST00000681011.1:c.814G>A	ENSP00000505520.1:p.Ala272Thr
ENST00000681029.1:n.2232G>A
ENST00000681175.1:c.639-1484G>A	ENSP00000505215.1:n.639-1484G>A
ENST00000681360.1:c.*692G>A	ENSP00000505504.1:n.*692G>A
ENST00000681366.1:n.706G>A
ENST00000681416.1:c.801+934G>A	ENSP00000506588.1:n.801+934G>A
ENST00000681427.1:c.*463G>A	ENSP00000506266.1:n.*463G>A
ENST00000681457.1:n.3743G>A
ENST00000681664.1:c.*446G>A	ENSP00000506298.1:n.*446G>A
ENST00000681877.1:c.638+1898G>A	ENSP00000506136.1:n.638+1898G>A
ENST00000217131.5:c.856G>A	ENSP00000217131.5:p.Ala286Thr
NM_001336.3:c.856G>A	NP_001327.2:p.Ala286Thr
NM_001336.4:c.856G>A MANE Select	NP_001327.2:p.Ala286Thr