Canonical Allele Identifier: CA379092500

Gene: CTSD

Linked Data

• gnomAD v4: 11-1753585-C-T
• MyVariant Identifiers: chr11:g.1774815C>T (hg19) ; chr11:g.1753585C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753585C>T , CM000673.2:g.1753585C>T	GRCh38
NC_000011.9:g.1774815C>T , CM000673.1:g.1774815C>T	GRCh37
NC_000011.8:g.1731391C>T	NCBI36
NG_008655.1:g.15408G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1157G>A MANE Select	ENSP00000236671.2:p.Gly386Asp
ENST00000367196.4:c.1052G>A	ENSP00000356164.4:p.Gly351Asp
ENST00000427721.3:c.582G>A
ENST00000429746.2:c.1052G>A	ENSP00000402586.2:p.Gly351Asp
ENST00000433655.6:c.*323G>A	ENSP00000404902.1:n.*323G>A
ENST00000438213.6:c.1274G>A	ENSP00000415036.2:p.Gly425Asp
ENST00000636397.1:c.1071+218G>A	ENSP00000489910.1:n.1071+218G>A
ENST00000636571.1:c.1136G>A	ENSP00000490770.1:p.Gly379Asp
ENST00000636579.1:c.72+218G>A	ENSP00000490489.1:n.72+218G>A
ENST00000636615.1:c.1071+218G>A	ENSP00000490014.1:n.1071+218G>A
ENST00000636843.1:c.1151G>A	ENSP00000490897.1:p.Gly384Asp
ENST00000637158.1:n.755G>A
ENST00000637381.2:n.3585G>A
ENST00000637387.1:c.1136G>A	ENSP00000490598.1:p.Gly379Asp
ENST00000637815.2:c.1139G>A	ENSP00000490344.1:p.Gly380Asp
ENST00000637915.1:c.1148G>A	ENSP00000490471.1:p.Gly383Asp
ENST00000637937.1:n.465G>A
ENST00000678991.1:c.*1018G>A	ENSP00000503019.1:n.*1018G>A
ENST00000236671.6:c.1157G>A	ENSP00000236671.2:p.Gly386Asp
ENST00000427721.2:c.471+218G>A	ENSP00000415840.2:n.471+218G>A
ENST00000429746.1:c.488G>A	ENSP00000402586.1:p.Gly163Asp
ENST00000433655.5:c.*323G>A	ENSP00000404902.1:n.*323G>A
NM_001909.4:c.1157G>A	NP_001900.1:p.Gly386Asp
NM_001909.5:c.1157G>A MANE Select	NP_001900.1:p.Gly386Asp