Canonical Allele Identifier: CA379092350

Gene: CTSD

Linked Data

• gnomAD v4: 11-1753528-C-T
• MyVariant Identifiers: chr11:g.1774758C>T (hg19) ; chr11:g.1753528C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753528C>T , CM000673.2:g.1753528C>T	GRCh38
NC_000011.9:g.1774758C>T , CM000673.1:g.1774758C>T	GRCh37
NC_000011.8:g.1731334C>T	NCBI36
NG_008655.1:g.15465G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1214G>A MANE Select	ENSP00000236671.2:p.Gly405Asp
ENST00000367196.4:c.1109G>A	ENSP00000356164.4:p.Gly370Asp
ENST00000427721.3:c.634+5G>A
ENST00000429746.2:c.1109G>A	ENSP00000402586.2:p.Gly370Asp
ENST00000433655.6:c.*380G>A	ENSP00000404902.1:n.*380G>A
ENST00000438213.6:c.1331G>A	ENSP00000415036.2:p.Gly444Asp
ENST00000636397.1:c.1071+275G>A	ENSP00000489910.1:n.1071+275G>A
ENST00000636571.1:c.1193G>A	ENSP00000490770.1:p.Gly398Asp
ENST00000636579.1:c.72+275G>A	ENSP00000490489.1:n.72+275G>A
ENST00000636615.1:c.1071+275G>A	ENSP00000490014.1:n.1071+275G>A
ENST00000636843.1:c.1208G>A	ENSP00000490897.1:p.Gly403Asp
ENST00000637158.1:n.812G>A
ENST00000637381.2:n.3642G>A
ENST00000637387.1:c.1193G>A	ENSP00000490598.1:p.Gly398Asp
ENST00000637815.2:c.1196G>A	ENSP00000490344.1:p.Gly399Asp
ENST00000637915.1:c.1205G>A	ENSP00000490471.1:p.Gly402Asp
ENST00000637937.1:n.522G>A
ENST00000678991.1:c.*1075G>A	ENSP00000503019.1:n.*1075G>A
ENST00000236671.6:c.1214G>A	ENSP00000236671.2:p.Gly405Asp
ENST00000427721.2:c.471+275G>A	ENSP00000415840.2:n.471+275G>A
ENST00000429746.1:c.545G>A	ENSP00000402586.1:p.Gly182Asp
ENST00000433655.5:c.*380G>A	ENSP00000404902.1:n.*380G>A
NM_001909.4:c.1214G>A	NP_001900.1:p.Gly405Asp
NM_001909.5:c.1214G>A MANE Select	NP_001900.1:p.Gly405Asp