Canonical Allele Identifier: CA1947825117
Gene: CTSD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1753568G= , CM000673.2:g.1753568G= GRCh38
NC_000011.9:g.1774798G= , CM000673.1:g.1774798G= GRCh37
NC_000011.8:g.1731374G= NCBI36
NG_008655.1:g.15425C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000236671.7:c.1174C= MANE Select ENSP00000236671.2:p.Arg392=
ENST00000367196.4:c.1069C= ENSP00000356164.4:p.Arg357=
ENST00000427721.3:c.599C=
ENST00000429746.2:c.1069C= ENSP00000402586.2:p.Arg357=
ENST00000433655.6:c.*340C= ENSP00000404902.1:n.*340C=
ENST00000438213.6:c.1291C= ENSP00000415036.2:p.Arg431=
ENST00000636397.1:c.1071+235C= ENSP00000489910.1:n.1071+235C=
ENST00000636571.1:c.1153C= ENSP00000490770.1:p.Arg385=
ENST00000636579.1:c.72+235C= ENSP00000490489.1:n.72+235C=
ENST00000636615.1:c.1071+235C= ENSP00000490014.1:n.1071+235C=
ENST00000636843.1:c.1168C= ENSP00000490897.1:p.Arg390=
ENST00000637158.1:n.772C=
ENST00000637381.2:n.3602C=
ENST00000637387.1:c.1153C= ENSP00000490598.1:p.Arg385=
ENST00000637815.2:c.1156C= ENSP00000490344.1:p.Arg386=
ENST00000637915.1:c.1165C= ENSP00000490471.1:p.Arg389=
ENST00000637937.1:n.482C=
ENST00000678991.1:c.*1035C= ENSP00000503019.1:n.*1035C=
ENST00000236671.6:c.1174C= ENSP00000236671.2:p.Arg392=
ENST00000427721.2:c.471+235C= ENSP00000415840.2:n.471+235C=
ENST00000429746.1:c.505C= ENSP00000402586.1:p.Arg169=
ENST00000433655.5:c.*340C= ENSP00000404902.1:n.*340C=
NM_001909.4:c.1174C= NP_001900.1:p.Arg392=
NM_001909.5:c.1174C= MANE Select NP_001900.1:p.Arg392=