Canonical Allele Identifier: CA379092727

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1774875C>T (hg19) ; chr11:g.1753645C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753645C>T , CM000673.2:g.1753645C>T	GRCh38
NC_000011.9:g.1774875C>T , CM000673.1:g.1774875C>T	GRCh37
NC_000011.8:g.1731451C>T	NCBI36
NG_008655.1:g.15348G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1097G>A MANE Select	ENSP00000236671.2:p.Cys366Tyr
ENST00000367196.4:c.992G>A	ENSP00000356164.4:p.Cys331Tyr
ENST00000427721.3:c.522G>A
ENST00000429746.2:c.992G>A	ENSP00000402586.2:p.Cys331Tyr
ENST00000433655.6:c.*263G>A	ENSP00000404902.1:n.*263G>A
ENST00000438213.6:c.1214G>A	ENSP00000415036.2:p.Cys405Tyr
ENST00000636397.1:c.1071+158G>A	ENSP00000489910.1:n.1071+158G>A
ENST00000636571.1:c.1076G>A	ENSP00000490770.1:p.Cys359Tyr
ENST00000636579.1:c.72+158G>A	ENSP00000490489.1:n.72+158G>A
ENST00000636615.1:c.1071+158G>A	ENSP00000490014.1:n.1071+158G>A
ENST00000636843.1:c.1091G>A	ENSP00000490897.1:p.Cys364Tyr
ENST00000637158.1:n.695G>A
ENST00000637381.2:n.3525G>A
ENST00000637387.1:c.1076G>A	ENSP00000490598.1:p.Cys359Tyr
ENST00000637815.2:c.1079G>A	ENSP00000490344.1:p.Cys360Tyr
ENST00000637915.1:c.1088G>A	ENSP00000490471.1:p.Cys363Tyr
ENST00000637937.1:n.405G>A
ENST00000678991.1:c.*958G>A	ENSP00000503019.1:n.*958G>A
ENST00000236671.6:c.1097G>A	ENSP00000236671.2:p.Cys366Tyr
ENST00000427721.2:c.471+158G>A	ENSP00000415840.2:n.471+158G>A
ENST00000429746.1:c.428G>A	ENSP00000402586.1:p.Cys143Tyr
ENST00000433655.5:c.*263G>A	ENSP00000404902.1:n.*263G>A
NM_001909.4:c.1097G>A	NP_001900.1:p.Cys366Tyr
NM_001909.5:c.1097G>A MANE Select	NP_001900.1:p.Cys366Tyr