Canonical Allele Identifier: CA379092415

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1774788G>C (hg19) ; chr11:g.1753558G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753558G>C , CM000673.2:g.1753558G>C	GRCh38
NC_000011.9:g.1774788G>C , CM000673.1:g.1774788G>C	GRCh37
NC_000011.8:g.1731364G>C	NCBI36
NG_008655.1:g.15435C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.1184C>G MANE Select	ENSP00000236671.2:p.Thr395Ser
ENST00000367196.4:c.1079C>G	ENSP00000356164.4:p.Thr360Ser
ENST00000427721.3:c.609C>G
ENST00000429746.2:c.1079C>G	ENSP00000402586.2:p.Thr360Ser
ENST00000433655.6:c.*350C>G	ENSP00000404902.1:n.*350C>G
ENST00000438213.6:c.1301C>G	ENSP00000415036.2:p.Thr434Ser
ENST00000636397.1:c.1071+245C>G	ENSP00000489910.1:n.1071+245C>G
ENST00000636571.1:c.1163C>G	ENSP00000490770.1:p.Thr388Ser
ENST00000636579.1:c.72+245C>G	ENSP00000490489.1:n.72+245C>G
ENST00000636615.1:c.1071+245C>G	ENSP00000490014.1:n.1071+245C>G
ENST00000636843.1:c.1178C>G	ENSP00000490897.1:p.Thr393Ser
ENST00000637158.1:n.782C>G
ENST00000637381.2:n.3612C>G
ENST00000637387.1:c.1163C>G	ENSP00000490598.1:p.Thr388Ser
ENST00000637815.2:c.1166C>G	ENSP00000490344.1:p.Thr389Ser
ENST00000637915.1:c.1175C>G	ENSP00000490471.1:p.Thr392Ser
ENST00000637937.1:n.492C>G
ENST00000678991.1:c.*1045C>G	ENSP00000503019.1:n.*1045C>G
ENST00000236671.6:c.1184C>G	ENSP00000236671.2:p.Thr395Ser
ENST00000427721.2:c.471+245C>G	ENSP00000415840.2:n.471+245C>G
ENST00000429746.1:c.515C>G	ENSP00000402586.1:p.Thr172Ser
ENST00000433655.5:c.*350C>G	ENSP00000404902.1:n.*350C>G
NM_001909.4:c.1184C>G	NP_001900.1:p.Thr395Ser
NM_001909.5:c.1184C>G MANE Select	NP_001900.1:p.Thr395Ser