Canonical Allele Identifier: CA1947824972

Gene: CTSD

Linked Data

• dbSNP Id: rs1845750531

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753329A>C , CM000673.2:g.1753329A>C	GRCh38
NC_000011.9:g.1774559A>C , CM000673.1:g.1774559A>C	GRCh37
NC_000011.8:g.1731135A>C	NCBI36
NG_008655.1:g.15664T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.*174T>G MANE Select	ENSP00000236671.2:n.*174T>G
ENST00000367196.4:c.*174T>G	ENSP00000356164.4:n.*174T>G
ENST00000427721.3:c.634+204T>G
ENST00000429746.2:c.*174T>G	ENSP00000402586.2:n.*174T>G
ENST00000433655.6:c.*579T>G	ENSP00000404902.1:n.*579T>G
ENST00000636397.1:c.1071+474T>G	ENSP00000489910.1:n.1071+474T>G
ENST00000636571.1:c.*174T>G	ENSP00000490770.1:n.*174T>G
ENST00000636579.1:c.72+474T>G	ENSP00000490489.1:n.72+474T>G
ENST00000636615.1:c.1071+474T>G	ENSP00000490014.1:n.1071+474T>G
ENST00000636843.1:c.*174T>G	ENSP00000490897.1:n.*174T>G
ENST00000637158.1:n.1011T>G
ENST00000637381.2:n.3841T>G
ENST00000637387.1:c.*174T>G	ENSP00000490598.1:n.*174T>G
ENST00000637815.2:c.*174T>G	ENSP00000490344.1:n.*174T>G
ENST00000637915.1:c.*174T>G	ENSP00000490471.1:n.*174T>G
ENST00000637937.1:n.721T>G
ENST00000678991.1:c.*1274T>G	ENSP00000503019.1:n.*1274T>G
ENST00000236671.6:c.*174T>G	ENSP00000236671.2:n.*174T>G
ENST00000427721.2:c.471+474T>G	ENSP00000415840.2:n.471+474T>G
ENST00000433655.5:c.*579T>G	ENSP00000404902.1:n.*579T>G
NM_001909.4:c.*174T>G	NP_001900.1:n.*174T>G
NM_001909.5:c.*174T>G MANE Select	NP_001900.1:n.*174T>G