Canonical Allele Identifier: CA379092746
Gene: CTSD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1753652T>A , CM000673.2:g.1753652T>A GRCh38
NC_000011.9:g.1774882T>A , CM000673.1:g.1774882T>A GRCh37
NC_000011.8:g.1731458T>A NCBI36
NG_008655.1:g.15341A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000236671.7:c.1090A>T MANE Select ENSP00000236671.2:p.Thr364Ser
ENST00000367196.4:c.985A>T ENSP00000356164.4:p.Thr329Ser
ENST00000427721.3:c.515A>T
ENST00000429746.2:c.985A>T ENSP00000402586.2:p.Thr329Ser
ENST00000433655.6:c.*256A>T ENSP00000404902.1:n.*256A>T
ENST00000438213.6:c.1207A>T ENSP00000415036.2:p.Thr403Ser
ENST00000497544.3:n.798A>T
ENST00000636397.1:c.1071+151A>T ENSP00000489910.1:n.1071+151A>T
ENST00000636571.1:c.1069A>T ENSP00000490770.1:p.Thr357Ser
ENST00000636579.1:c.72+151A>T ENSP00000490489.1:n.72+151A>T
ENST00000636615.1:c.1071+151A>T ENSP00000490014.1:n.1071+151A>T
ENST00000636843.1:c.1084A>T ENSP00000490897.1:p.Thr362Ser
ENST00000637158.1:n.688A>T
ENST00000637381.2:n.3518A>T
ENST00000637387.1:c.1069A>T ENSP00000490598.1:p.Thr357Ser
ENST00000637815.2:c.1072A>T ENSP00000490344.1:p.Thr358Ser
ENST00000637915.1:c.1081A>T ENSP00000490471.1:p.Thr361Ser
ENST00000637937.1:n.398A>T
ENST00000678991.1:c.*951A>T ENSP00000503019.1:n.*951A>T
ENST00000236671.6:c.1090A>T ENSP00000236671.2:p.Thr364Ser
ENST00000427721.2:c.471+151A>T ENSP00000415840.2:n.471+151A>T
ENST00000429746.1:c.421A>T ENSP00000402586.1:p.Thr141Ser
ENST00000433655.5:c.*256A>T ENSP00000404902.1:n.*256A>T
NM_001909.4:c.1090A>T NP_001900.1:p.Thr364Ser
NM_001909.5:c.1090A>T MANE Select NP_001900.1:p.Thr364Ser