Canonical Allele Identifier: CA379092559
Gene: CTSD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1753601G>T , CM000673.2:g.1753601G>T GRCh38
NC_000011.9:g.1774831G>T , CM000673.1:g.1774831G>T GRCh37
NC_000011.8:g.1731407G>T NCBI36
NG_008655.1:g.15392C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000236671.7:c.1141C>A MANE Select ENSP00000236671.2:p.Pro381Thr
ENST00000367196.4:c.1036C>A ENSP00000356164.4:p.Pro346Thr
ENST00000427721.3:c.566C>A
ENST00000429746.2:c.1036C>A ENSP00000402586.2:p.Pro346Thr
ENST00000433655.6:c.*307C>A ENSP00000404902.1:n.*307C>A
ENST00000438213.6:c.1258C>A ENSP00000415036.2:p.Pro420Thr
ENST00000636397.1:c.1071+202C>A ENSP00000489910.1:n.1071+202C>A
ENST00000636571.1:c.1120C>A ENSP00000490770.1:p.Pro374Thr
ENST00000636579.1:c.72+202C>A ENSP00000490489.1:n.72+202C>A
ENST00000636615.1:c.1071+202C>A ENSP00000490014.1:n.1071+202C>A
ENST00000636843.1:c.1135C>A ENSP00000490897.1:p.Pro379Thr
ENST00000637158.1:n.739C>A
ENST00000637381.2:n.3569C>A
ENST00000637387.1:c.1120C>A ENSP00000490598.1:p.Pro374Thr
ENST00000637815.2:c.1123C>A ENSP00000490344.1:p.Pro375Thr
ENST00000637915.1:c.1132C>A ENSP00000490471.1:p.Pro378Thr
ENST00000637937.1:n.449C>A
ENST00000678991.1:c.*1002C>A ENSP00000503019.1:n.*1002C>A
ENST00000236671.6:c.1141C>A ENSP00000236671.2:p.Pro381Thr
ENST00000427721.2:c.471+202C>A ENSP00000415840.2:n.471+202C>A
ENST00000429746.1:c.472C>A ENSP00000402586.1:p.Pro158Thr
ENST00000433655.5:c.*307C>A ENSP00000404902.1:n.*307C>A
NM_001909.4:c.1141C>A NP_001900.1:p.Pro381Thr
NM_001909.5:c.1141C>A MANE Select NP_001900.1:p.Pro381Thr