Canonical Allele Identifier: CA379092402

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1774782A>C (hg19) ; chr11:g.1753552A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753552A>C , CM000673.2:g.1753552A>C	GRCh38
NC_000011.9:g.1774782A>C , CM000673.1:g.1774782A>C	GRCh37
NC_000011.8:g.1731358A>C	NCBI36
NG_008655.1:g.15441T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.1190T>G MANE Select	ENSP00000236671.2:p.Phe397Cys
ENST00000367196.4:c.1085T>G	ENSP00000356164.4:p.Phe362Cys
ENST00000427721.3:c.615T>G
ENST00000429746.2:c.1085T>G	ENSP00000402586.2:p.Phe362Cys
ENST00000433655.6:c.*356T>G	ENSP00000404902.1:n.*356T>G
ENST00000438213.6:c.1307T>G	ENSP00000415036.2:p.Phe436Cys
ENST00000636397.1:c.1071+251T>G	ENSP00000489910.1:n.1071+251T>G
ENST00000636571.1:c.1169T>G	ENSP00000490770.1:p.Phe390Cys
ENST00000636579.1:c.72+251T>G	ENSP00000490489.1:n.72+251T>G
ENST00000636615.1:c.1071+251T>G	ENSP00000490014.1:n.1071+251T>G
ENST00000636843.1:c.1184T>G	ENSP00000490897.1:p.Phe395Cys
ENST00000637158.1:n.788T>G
ENST00000637381.2:n.3618T>G
ENST00000637387.1:c.1169T>G	ENSP00000490598.1:p.Phe390Cys
ENST00000637815.2:c.1172T>G	ENSP00000490344.1:p.Phe391Cys
ENST00000637915.1:c.1181T>G	ENSP00000490471.1:p.Phe394Cys
ENST00000637937.1:n.498T>G
ENST00000678991.1:c.*1051T>G	ENSP00000503019.1:n.*1051T>G
ENST00000236671.6:c.1190T>G	ENSP00000236671.2:p.Phe397Cys
ENST00000427721.2:c.471+251T>G	ENSP00000415840.2:n.471+251T>G
ENST00000429746.1:c.521T>G	ENSP00000402586.1:p.Phe174Cys
ENST00000433655.5:c.*356T>G	ENSP00000404902.1:n.*356T>G
NM_001909.4:c.1190T>G	NP_001900.1:p.Phe397Cys
NM_001909.5:c.1190T>G MANE Select	NP_001900.1:p.Phe397Cys