Canonical Allele Identifier: CA379096151

Gene: CTSD

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1757478T>A , CM000673.2:g.1757478T>A	GRCh38
NC_000011.9:g.1778708T>A , CM000673.1:g.1778708T>A	GRCh37
NC_000011.8:g.1735284T>A	NCBI36
NG_008655.1:g.11515A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001909.5:c.550A>T MANE Select	NP_001900.1:p.Lys184Ter
ENST00000236671.7:c.550A>T MANE Select	ENSP00000236671.2:p.Lys184Ter
NM_001909.4:c.550A>T	NP_001900.1:p.Lys184Ter
ENST00000236671.6:c.550A>T	ENSP00000236671.2:p.Lys184Ter
ENST00000367196.3:c.445A>T	ENSP00000356164.3:p.Lys149Ter
ENST00000367196.4:c.445A>T	ENSP00000356164.4:p.Lys149Ter
ENST00000427721.2:c.-51A>T	ENSP00000415840.2:n.-51A>T
ENST00000429746.2:c.445A>T	ENSP00000402586.2:p.Lys149Ter
ENST00000433655.5:c.550A>T	ENSP00000404902.1:p.Lys184Ter
ENST00000433655.6:c.550A>T	ENSP00000404902.1:p.Lys184Ter
ENST00000438213.5:c.505A>T	ENSP00000415036.1:p.Lys169Ter
ENST00000438213.6:c.550A>T	ENSP00000415036.2:p.Lys184Ter
ENST00000636397.1:c.550A>T	ENSP00000489910.1:p.Lys184Ter
ENST00000636571.1:c.529A>T	ENSP00000490770.1:p.Lys177Ter
ENST00000636615.1:c.550A>T	ENSP00000490014.1:p.Lys184Ter
ENST00000636843.1:c.544A>T	ENSP00000490897.1:p.Lys182Ter
ENST00000637158.1:n.148A>T
ENST00000637381.2:n.2978A>T
ENST00000637387.1:c.550A>T	ENSP00000490598.1:p.Lys184Ter
ENST00000637815.2:c.550A>T	ENSP00000490344.1:p.Lys184Ter
ENST00000637915.1:c.550A>T	ENSP00000490471.1:p.Lys184Ter
ENST00000677300.1:n.945A>T
ENST00000678991.1:c.*411A>T	ENSP00000503019.1:n.*411A>T