Canonical Allele Identifier: CA2574765884

Gene: CTSD

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753417T>C , CM000673.2:g.1753417T>C	GRCh38
NC_000011.9:g.1774647T>C , CM000673.1:g.1774647T>C	GRCh37
NC_000011.8:g.1731223T>C	NCBI36
NG_008655.1:g.15576A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.*86A>G MANE Select	ENSP00000236671.2:n.*86A>G
ENST00000367196.4:c.*86A>G	ENSP00000356164.4:n.*86A>G
ENST00000427721.3:c.634+116A>G
ENST00000429746.2:c.*86A>G	ENSP00000402586.2:n.*86A>G
ENST00000433655.6:c.*491A>G	ENSP00000404902.1:n.*491A>G
ENST00000438213.6:c.*86A>G	ENSP00000415036.2:n.*86A>G
ENST00000636397.1:c.1071+386A>G	ENSP00000489910.1:n.1071+386A>G
ENST00000636571.1:c.*86A>G	ENSP00000490770.1:n.*86A>G
ENST00000636579.1:c.72+386A>G	ENSP00000490489.1:n.72+386A>G
ENST00000636615.1:c.1071+386A>G	ENSP00000490014.1:n.1071+386A>G
ENST00000636843.1:c.*86A>G	ENSP00000490897.1:n.*86A>G
ENST00000637158.1:n.923A>G
ENST00000637381.2:n.3753A>G
ENST00000637387.1:c.*86A>G	ENSP00000490598.1:n.*86A>G
ENST00000637815.2:c.*86A>G	ENSP00000490344.1:n.*86A>G
ENST00000637915.1:c.*86A>G	ENSP00000490471.1:n.*86A>G
ENST00000637937.1:n.633A>G
ENST00000678991.1:c.*1186A>G	ENSP00000503019.1:n.*1186A>G
ENST00000236671.6:c.*86A>G	ENSP00000236671.2:n.*86A>G
ENST00000427721.2:c.471+386A>G	ENSP00000415840.2:n.471+386A>G
ENST00000429746.1:c.656A>G	ENSP00000402586.1:n.656A>G
ENST00000433655.5:c.*491A>G	ENSP00000404902.1:n.*491A>G
NM_001909.4:c.*86A>G	NP_001900.1:n.*86A>G
NM_001909.5:c.*86A>G MANE Select	NP_001900.1:n.*86A>G