Canonical Allele Identifier: CA379094195

Gene: CTSD

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1754134C>A , CM000673.2:g.1754134C>A	GRCh38
NC_000011.9:g.1775364C>A , CM000673.1:g.1775364C>A	GRCh37
NC_000011.8:g.1731940C>A	NCBI36
NG_008655.1:g.14859G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001909.5:c.832G>T MANE Select	NP_001900.1:p.Glu278Ter
ENST00000236671.7:c.832G>T MANE Select	ENSP00000236671.2:p.Glu278Ter
NM_001909.4:c.832G>T	NP_001900.1:p.Glu278Ter
ENST00000236671.6:c.832G>T	ENSP00000236671.2:p.Glu278Ter
ENST00000367196.4:c.727G>T	ENSP00000356164.4:p.Glu243Ter
ENST00000427721.2:c.232G>T	ENSP00000415840.2:p.Glu78Ter
ENST00000427721.3:c.257G>T
ENST00000429746.1:c.163G>T	ENSP00000402586.1:p.Glu55Ter
ENST00000429746.2:c.727G>T	ENSP00000402586.2:p.Glu243Ter
ENST00000433655.5:c.*1-3G>T	ENSP00000404902.1:n.*1-3G>T
ENST00000433655.6:c.*1-3G>T	ENSP00000404902.1:n.*1-3G>T
ENST00000438213.5:c.787G>T	ENSP00000415036.1:p.Glu263Ter
ENST00000438213.6:c.949G>T	ENSP00000415036.2:p.Glu317Ter
ENST00000497544.1:n.448G>T
ENST00000497544.3:n.448G>T
ENST00000636397.1:c.832G>T	ENSP00000489910.1:p.Glu278Ter
ENST00000636571.1:c.811G>T	ENSP00000490770.1:p.Glu271Ter
ENST00000636615.1:c.832G>T	ENSP00000490014.1:p.Glu278Ter
ENST00000636843.1:c.826G>T	ENSP00000490897.1:p.Glu276Ter
ENST00000637158.1:n.430G>T
ENST00000637381.2:n.3260G>T
ENST00000637387.1:c.832G>T	ENSP00000490598.1:p.Glu278Ter
ENST00000637815.2:c.814G>T	ENSP00000490344.1:p.Glu272Ter
ENST00000637915.1:c.832G>T	ENSP00000490471.1:p.Glu278Ter
ENST00000637937.1:n.140G>T
ENST00000678991.1:c.*693G>T	ENSP00000503019.1:n.*693G>T