Canonical Allele Identifier: CA5813868

Gene: CTSD

Linked Data

• ClinVar Variation Id: 880423
• ClinVar RCV Id: RCV001856449
• dbSNP Id: rs554062876
• ExAC: 11:1774750 C / T
• gnomAD v2: 11-1774750-C-T
• gnomAD v4: 11-1753520-C-T
• MyVariant Identifiers: chr11:g.1774750C>T (hg19) ; chr11:g.1753520C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753520C>T , CM000673.2:g.1753520C>T	GRCh38
NC_000011.9:g.1774750C>T , CM000673.1:g.1774750C>T	GRCh37
NC_000011.8:g.1731326C>T	NCBI36
NG_008655.1:g.15473G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.1222G>A MANE Select	ENSP00000236671.2:p.Glu408Lys
ENST00000367196.4:c.1117G>A	ENSP00000356164.4:p.Glu373Lys
ENST00000427721.3:c.634+13G>A
ENST00000429746.2:c.1117G>A	ENSP00000402586.2:p.Glu373Lys
ENST00000433655.6:c.*388G>A	ENSP00000404902.1:n.*388G>A
ENST00000438213.6:c.1339G>A	ENSP00000415036.2:p.Glu447Lys
ENST00000636397.1:c.1071+283G>A	ENSP00000489910.1:n.1071+283G>A
ENST00000636571.1:c.1201G>A	ENSP00000490770.1:p.Glu401Lys
ENST00000636579.1:c.72+283G>A	ENSP00000490489.1:n.72+283G>A
ENST00000636615.1:c.1071+283G>A	ENSP00000490014.1:n.1071+283G>A
ENST00000636843.1:c.1216G>A	ENSP00000490897.1:p.Glu406Lys
ENST00000637158.1:n.820G>A
ENST00000637381.2:n.3650G>A
ENST00000637387.1:c.1201G>A	ENSP00000490598.1:p.Glu401Lys
ENST00000637815.2:c.1204G>A	ENSP00000490344.1:p.Glu402Lys
ENST00000637915.1:c.1213G>A	ENSP00000490471.1:p.Glu405Lys
ENST00000637937.1:n.530G>A
ENST00000678991.1:c.*1083G>A	ENSP00000503019.1:n.*1083G>A
ENST00000236671.6:c.1222G>A	ENSP00000236671.2:p.Glu408Lys
ENST00000427721.2:c.471+283G>A	ENSP00000415840.2:n.471+283G>A
ENST00000429746.1:c.553G>A	ENSP00000402586.1:p.Glu185Lys
ENST00000433655.5:c.*388G>A	ENSP00000404902.1:n.*388G>A
NM_001909.4:c.1222G>A	NP_001900.1:p.Glu408Lys
NM_001909.5:c.1222G>A MANE Select	NP_001900.1:p.Glu408Lys