Canonical Allele Identifier: CA379092779

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1774891C>T (hg19) ; chr11:g.1753661C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753661C>T , CM000673.2:g.1753661C>T	GRCh38
NC_000011.9:g.1774891C>T , CM000673.1:g.1774891C>T	GRCh37
NC_000011.8:g.1731467C>T	NCBI36
NG_008655.1:g.15332G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1081G>A MANE Select	ENSP00000236671.2:p.Ala361Thr
ENST00000367196.4:c.976G>A	ENSP00000356164.4:p.Ala326Thr
ENST00000427721.3:c.506G>A
ENST00000429746.2:c.976G>A	ENSP00000402586.2:p.Ala326Thr
ENST00000433655.6:c.*247G>A	ENSP00000404902.1:n.*247G>A
ENST00000438213.6:c.1198G>A	ENSP00000415036.2:p.Ala400Thr
ENST00000497544.3:n.789G>A
ENST00000636397.1:c.1071+142G>A	ENSP00000489910.1:n.1071+142G>A
ENST00000636571.1:c.1060G>A	ENSP00000490770.1:p.Ala354Thr
ENST00000636579.1:c.72+142G>A	ENSP00000490489.1:n.72+142G>A
ENST00000636615.1:c.1071+142G>A	ENSP00000490014.1:n.1071+142G>A
ENST00000636843.1:c.1075G>A	ENSP00000490897.1:p.Ala359Thr
ENST00000637158.1:n.679G>A
ENST00000637381.2:n.3509G>A
ENST00000637387.1:c.1060G>A	ENSP00000490598.1:p.Ala354Thr
ENST00000637815.2:c.1063G>A	ENSP00000490344.1:p.Ala355Thr
ENST00000637915.1:c.1072G>A	ENSP00000490471.1:p.Ala358Thr
ENST00000637937.1:n.389G>A
ENST00000678991.1:c.*942G>A	ENSP00000503019.1:n.*942G>A
ENST00000236671.6:c.1081G>A	ENSP00000236671.2:p.Ala361Thr
ENST00000427721.2:c.471+142G>A	ENSP00000415840.2:n.471+142G>A
ENST00000429746.1:c.412G>A	ENSP00000402586.1:p.Ala138Thr
ENST00000433655.5:c.*247G>A	ENSP00000404902.1:n.*247G>A
NM_001909.4:c.1081G>A	NP_001900.1:p.Ala361Thr
NM_001909.5:c.1081G>A MANE Select	NP_001900.1:p.Ala361Thr