Canonical Allele Identifier: CA379098114
Gene: CTSD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1759538G>T , CM000673.2:g.1759538G>T GRCh38
NC_000011.9:g.1780768G>T , CM000673.1:g.1780768G>T GRCh37
NC_000011.8:g.1737344G>T NCBI36
NG_008655.1:g.9455C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000236671.7:c.330C>A MANE Select ENSP00000236671.2:p.Cys110Ter
ENST00000367196.4:c.225C>A ENSP00000356164.4:p.Cys75Ter
ENST00000429746.2:c.225C>A ENSP00000402586.2:p.Cys75Ter
ENST00000433655.6:c.330C>A ENSP00000404902.1:p.Cys110Ter
ENST00000438213.6:c.330C>A ENSP00000415036.2:p.Cys110Ter
ENST00000636397.1:c.330C>A ENSP00000489910.1:p.Cys110Ter
ENST00000636571.1:c.309C>A ENSP00000490770.1:p.Cys103Ter
ENST00000636615.1:c.330C>A ENSP00000490014.1:p.Cys110Ter
ENST00000636843.1:c.324C>A ENSP00000490897.1:p.Cys108Ter
ENST00000637381.2:n.2758C>A
ENST00000637387.1:c.330C>A ENSP00000490598.1:p.Cys110Ter
ENST00000637815.2:c.330C>A ENSP00000490344.1:p.Cys110Ter
ENST00000637915.1:c.330C>A ENSP00000490471.1:p.Cys110Ter
ENST00000677300.1:n.725C>A
ENST00000678991.1:c.*191C>A ENSP00000503019.1:n.*191C>A
ENST00000236671.6:c.330C>A ENSP00000236671.2:p.Cys110Ter
ENST00000367196.3:c.225C>A ENSP00000356164.3:p.Cys75Ter
ENST00000433655.5:c.330C>A ENSP00000404902.1:p.Cys110Ter
ENST00000438213.5:c.285C>A ENSP00000415036.1:p.Cys95Ter
NM_001909.4:c.330C>A NP_001900.1:p.Cys110Ter
NM_001909.5:c.330C>A MANE Select NP_001900.1:p.Cys110Ter