Canonical Allele Identifier: CA2611926824

Gene: CTSD

Linked Data

• gnomAD v4: 11-1753460-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753460G>C , CM000673.2:g.1753460G>C	GRCh38
NC_000011.9:g.1774690G>C , CM000673.1:g.1774690G>C	GRCh37
NC_000011.8:g.1731266G>C	NCBI36
NG_008655.1:g.15533C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.*43C>G MANE Select	ENSP00000236671.2:n.*43C>G
ENST00000367196.4:c.*43C>G	ENSP00000356164.4:n.*43C>G
ENST00000427721.3:c.634+73C>G
ENST00000429746.2:c.*43C>G	ENSP00000402586.2:n.*43C>G
ENST00000433655.6:c.*448C>G	ENSP00000404902.1:n.*448C>G
ENST00000438213.6:c.*43C>G	ENSP00000415036.2:n.*43C>G
ENST00000636397.1:c.1071+343C>G	ENSP00000489910.1:n.1071+343C>G
ENST00000636571.1:c.*43C>G	ENSP00000490770.1:n.*43C>G
ENST00000636579.1:c.72+343C>G	ENSP00000490489.1:n.72+343C>G
ENST00000636615.1:c.1071+343C>G	ENSP00000490014.1:n.1071+343C>G
ENST00000636843.1:c.*43C>G	ENSP00000490897.1:n.*43C>G
ENST00000637158.1:n.880C>G
ENST00000637381.2:n.3710C>G
ENST00000637387.1:c.*43C>G	ENSP00000490598.1:n.*43C>G
ENST00000637815.2:c.*43C>G	ENSP00000490344.1:n.*43C>G
ENST00000637915.1:c.*43C>G	ENSP00000490471.1:n.*43C>G
ENST00000637937.1:n.590C>G
ENST00000678991.1:c.*1143C>G	ENSP00000503019.1:n.*1143C>G
ENST00000236671.6:c.*43C>G	ENSP00000236671.2:n.*43C>G
ENST00000427721.2:c.471+343C>G	ENSP00000415840.2:n.471+343C>G
ENST00000429746.1:c.613C>G	ENSP00000402586.1:n.613C>G
ENST00000433655.5:c.*448C>G	ENSP00000404902.1:n.*448C>G
NM_001909.4:c.*43C>G	NP_001900.1:n.*43C>G
NM_001909.5:c.*43C>G MANE Select	NP_001900.1:n.*43C>G