Canonical Allele Identifier: CA1947825111
Gene: CTSD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1753554C= , CM000673.2:g.1753554C= GRCh38
NC_000011.9:g.1774784C= , CM000673.1:g.1774784C= GRCh37
NC_000011.8:g.1731360C= NCBI36
NG_008655.1:g.15439G=

Transcript Alleles

HGVS Amino-acid change
ENST00000236671.7:c.1188G= MANE Select ENSP00000236671.2:p.Val396=
ENST00000367196.4:c.1083G= ENSP00000356164.4:p.Val361=
ENST00000427721.3:c.613G=
ENST00000429746.2:c.1083G= ENSP00000402586.2:p.Val361=
ENST00000433655.6:c.*354G= ENSP00000404902.1:n.*354G=
ENST00000438213.6:c.1305G= ENSP00000415036.2:p.Val435=
ENST00000636397.1:c.1071+249G= ENSP00000489910.1:n.1071+249G=
ENST00000636571.1:c.1167G= ENSP00000490770.1:p.Val389=
ENST00000636579.1:c.72+249G= ENSP00000490489.1:n.72+249G=
ENST00000636615.1:c.1071+249G= ENSP00000490014.1:n.1071+249G=
ENST00000636843.1:c.1182G= ENSP00000490897.1:p.Val394=
ENST00000637158.1:n.786G=
ENST00000637381.2:n.3616G=
ENST00000637387.1:c.1167G= ENSP00000490598.1:p.Val389=
ENST00000637815.2:c.1170G= ENSP00000490344.1:p.Val390=
ENST00000637915.1:c.1179G= ENSP00000490471.1:p.Val393=
ENST00000637937.1:n.496G=
ENST00000678991.1:c.*1049G= ENSP00000503019.1:n.*1049G=
ENST00000236671.6:c.1188G= ENSP00000236671.2:p.Val396=
ENST00000427721.2:c.471+249G= ENSP00000415840.2:n.471+249G=
ENST00000429746.1:c.519G= ENSP00000402586.1:p.Val173=
ENST00000433655.5:c.*354G= ENSP00000404902.1:n.*354G=
NM_001909.4:c.1188G= NP_001900.1:p.Val396=
NM_001909.5:c.1188G= MANE Select NP_001900.1:p.Val396=