Canonical Allele Identifier: CA379095917

Gene: CTSD

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1757370G>A , CM000673.2:g.1757370G>A	GRCh38
NC_000011.9:g.1778600G>A , CM000673.1:g.1778600G>A	GRCh37
NC_000011.8:g.1735176G>A	NCBI36
NG_008655.1:g.11623C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001909.5:c.658C>T MANE Select	NP_001900.1:p.Gln220Ter
ENST00000236671.7:c.658C>T MANE Select	ENSP00000236671.2:p.Gln220Ter
NM_001909.4:c.658C>T	NP_001900.1:p.Gln220Ter
ENST00000236671.6:c.658C>T	ENSP00000236671.2:p.Gln220Ter
ENST00000367196.3:c.553C>T	ENSP00000356164.3:p.Gln185Ter
ENST00000367196.4:c.553C>T	ENSP00000356164.4:p.Gln185Ter
ENST00000427721.2:c.58C>T	ENSP00000415840.2:p.Gln20Ter
ENST00000427721.3:c.83C>T
ENST00000429746.2:c.553C>T	ENSP00000402586.2:p.Gln185Ter
ENST00000433655.5:c.658C>T	ENSP00000404902.1:p.Gln220Ter
ENST00000433655.6:c.658C>T	ENSP00000404902.1:p.Gln220Ter
ENST00000438213.5:c.613C>T	ENSP00000415036.1:p.Gln205Ter
ENST00000438213.6:c.658C>T	ENSP00000415036.2:p.Gln220Ter
ENST00000636397.1:c.658C>T	ENSP00000489910.1:p.Gln220Ter
ENST00000636571.1:c.637C>T	ENSP00000490770.1:p.Gln213Ter
ENST00000636615.1:c.658C>T	ENSP00000490014.1:p.Gln220Ter
ENST00000636843.1:c.652C>T	ENSP00000490897.1:p.Gln218Ter
ENST00000637158.1:n.256C>T
ENST00000637381.2:n.3086C>T
ENST00000637387.1:c.658C>T	ENSP00000490598.1:p.Gln220Ter
ENST00000637815.2:c.658C>T	ENSP00000490344.1:p.Gln220Ter
ENST00000637915.1:c.658C>T	ENSP00000490471.1:p.Gln220Ter
ENST00000677300.1:n.1053C>T
ENST00000678991.1:c.*519C>T	ENSP00000503019.1:n.*519C>T