Canonical Allele Identifier: CA2611927333

Gene: CTSD

Linked Data

• gnomAD v4: 11-1753750-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753750G>C , CM000673.2:g.1753750G>C	GRCh38
NC_000011.9:g.1774980G>C , CM000673.1:g.1774980G>C	GRCh37
NC_000011.8:g.1731556G>C	NCBI36
NG_008655.1:g.15243C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1071+53C>G MANE Select	ENSP00000236671.2:n.1071+53C>G
ENST00000367196.4:c.966+53C>G	ENSP00000356164.4:n.966+53C>G
ENST00000427721.3:c.496+53C>G
ENST00000429746.2:c.966+53C>G	ENSP00000402586.2:n.966+53C>G
ENST00000433655.6:c.*237+53C>G	ENSP00000404902.1:n.*237+53C>G
ENST00000438213.6:c.1188+53C>G	ENSP00000415036.2:n.1188+53C>G
ENST00000497544.3:n.779+53C>G
ENST00000636397.1:c.1071+53C>G	ENSP00000489910.1:n.1071+53C>G
ENST00000636571.1:c.1050+53C>G	ENSP00000490770.1:n.1050+53C>G
ENST00000636579.1:c.72+53C>G	ENSP00000490489.1:n.72+53C>G
ENST00000636615.1:c.1071+53C>G	ENSP00000490014.1:n.1071+53C>G
ENST00000636843.1:c.1065+53C>G	ENSP00000490897.1:n.1065+53C>G
ENST00000637158.1:n.669+53C>G
ENST00000637381.2:n.3499+53C>G
ENST00000637387.1:c.1050+53C>G	ENSP00000490598.1:n.1050+53C>G
ENST00000637815.2:c.1053+53C>G	ENSP00000490344.1:n.1053+53C>G
ENST00000637915.1:c.1071+53C>G	ENSP00000490471.1:n.1071+53C>G
ENST00000637937.1:n.379+53C>G
ENST00000678991.1:c.*932+53C>G	ENSP00000503019.1:n.*932+53C>G
ENST00000236671.6:c.1071+53C>G	ENSP00000236671.2:n.1071+53C>G
ENST00000427721.2:c.471+53C>G	ENSP00000415840.2:n.471+53C>G
ENST00000429746.1:c.402+53C>G	ENSP00000402586.1:n.402+53C>G
ENST00000433655.5:c.*237+53C>G	ENSP00000404902.1:n.*237+53C>G
NM_001909.4:c.1071+53C>G	NP_001900.1:n.1071+53C>G
NM_001909.5:c.1071+53C>G MANE Select	NP_001900.1:n.1071+53C>G