Canonical Allele Identifier: CA379097974
Gene: CTSD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1759521G>T , CM000673.2:g.1759521G>T GRCh38
NC_000011.9:g.1780751G>T , CM000673.1:g.1780751G>T GRCh37
NC_000011.8:g.1737327G>T NCBI36
NG_008655.1:g.9472C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000236671.7:c.347C>A MANE Select ENSP00000236671.2:p.Ala116Asp
ENST00000367196.4:c.242C>A ENSP00000356164.4:p.Ala81Asp
ENST00000429746.2:c.242C>A ENSP00000402586.2:p.Ala81Asp
ENST00000433655.6:c.347C>A ENSP00000404902.1:p.Ala116Asp
ENST00000438213.6:c.347C>A ENSP00000415036.2:p.Ala116Asp
ENST00000636397.1:c.347C>A ENSP00000489910.1:p.Ala116Asp
ENST00000636571.1:c.326C>A ENSP00000490770.1:p.Ala109Asp
ENST00000636615.1:c.347C>A ENSP00000490014.1:p.Ala116Asp
ENST00000636843.1:c.341C>A ENSP00000490897.1:p.Ala114Asp
ENST00000637381.2:n.2775C>A
ENST00000637387.1:c.347C>A ENSP00000490598.1:p.Ala116Asp
ENST00000637815.2:c.347C>A ENSP00000490344.1:p.Ala116Asp
ENST00000637915.1:c.347C>A ENSP00000490471.1:p.Ala116Asp
ENST00000677300.1:n.742C>A
ENST00000678991.1:c.*208C>A ENSP00000503019.1:n.*208C>A
ENST00000236671.6:c.347C>A ENSP00000236671.2:p.Ala116Asp
ENST00000367196.3:c.242C>A ENSP00000356164.3:p.Ala81Asp
ENST00000433655.5:c.347C>A ENSP00000404902.1:p.Ala116Asp
ENST00000438213.5:c.302C>A ENSP00000415036.1:p.Ala101Asp
NM_001909.4:c.347C>A NP_001900.1:p.Ala116Asp
NM_001909.5:c.347C>A MANE Select NP_001900.1:p.Ala116Asp