Canonical Allele Identifier: CA2574736212
Gene: CTSD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1757295G>C , CM000673.2:g.1757295G>C GRCh38
NC_000011.9:g.1778525G>C , CM000673.1:g.1778525G>C GRCh37
NC_000011.8:g.1735101G>C NCBI36
NG_008655.1:g.11698C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000236671.7:c.704+29C>G MANE Select ENSP00000236671.2:n.704+29C>G
ENST00000367196.4:c.599+29C>G ENSP00000356164.4:n.599+29C>G
ENST00000427721.3:c.129+29C>G
ENST00000429746.2:c.599+29C>G ENSP00000402586.2:n.599+29C>G
ENST00000433655.6:c.704+29C>G ENSP00000404902.1:n.704+29C>G
ENST00000438213.6:c.704+29C>G ENSP00000415036.2:n.704+29C>G
ENST00000636397.1:c.704+29C>G ENSP00000489910.1:n.704+29C>G
ENST00000636571.1:c.683+29C>G ENSP00000490770.1:n.683+29C>G
ENST00000636615.1:c.704+29C>G ENSP00000490014.1:n.704+29C>G
ENST00000636843.1:c.698+29C>G ENSP00000490897.1:n.698+29C>G
ENST00000637158.1:n.302+29C>G
ENST00000637381.2:n.3132+29C>G
ENST00000637387.1:c.704+29C>G ENSP00000490598.1:n.704+29C>G
ENST00000637815.2:c.704+29C>G ENSP00000490344.1:n.704+29C>G
ENST00000637915.1:c.704+29C>G ENSP00000490471.1:n.704+29C>G
ENST00000678991.1:c.*565+29C>G ENSP00000503019.1:n.*565+29C>G
ENST00000236671.6:c.704+29C>G ENSP00000236671.2:n.704+29C>G
ENST00000427721.2:c.104+29C>G ENSP00000415840.2:n.104+29C>G
ENST00000433655.5:c.704+29C>G ENSP00000404902.1:n.704+29C>G
ENST00000438213.5:c.659+29C>G ENSP00000415036.1:n.659+29C>G
NM_001909.4:c.704+29C>G NP_001900.1:n.704+29C>G
NM_001909.5:c.704+29C>G MANE Select NP_001900.1:n.704+29C>G