Canonical Allele Identifier: CA379098344

Gene: CTSD

Linked Data

• ClinVar Variation Id: 1395214
• ClinVar RCV Id: RCV001884994
• dbSNP Id: rs748897941
• MyVariant Identifiers: chr11:g.1780805G>C (hg19) ; chr11:g.1759575G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1759575G>C , CM000673.2:g.1759575G>C	GRCh38
NC_000011.9:g.1780805G>C , CM000673.1:g.1780805G>C	GRCh37
NC_000011.8:g.1737381G>C	NCBI36
NG_008655.1:g.9418C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.293C>G MANE Select	ENSP00000236671.2:p.Thr98Arg
ENST00000367196.4:c.188C>G	ENSP00000356164.4:p.Thr63Arg
ENST00000429746.2:c.188C>G	ENSP00000402586.2:p.Thr63Arg
ENST00000433655.6:c.293C>G	ENSP00000404902.1:p.Thr98Arg
ENST00000438213.6:c.293C>G	ENSP00000415036.2:p.Thr98Arg
ENST00000636397.1:c.293C>G	ENSP00000489910.1:p.Thr98Arg
ENST00000636571.1:c.272C>G	ENSP00000490770.1:p.Thr91Arg
ENST00000636615.1:c.293C>G	ENSP00000490014.1:p.Thr98Arg
ENST00000636843.1:c.287C>G	ENSP00000490897.1:p.Thr96Arg
ENST00000637381.2:n.2721C>G
ENST00000637387.1:c.293C>G	ENSP00000490598.1:p.Thr98Arg
ENST00000637815.2:c.293C>G	ENSP00000490344.1:p.Thr98Arg
ENST00000637915.1:c.293C>G	ENSP00000490471.1:p.Thr98Arg
ENST00000677300.1:n.688C>G
ENST00000678991.1:c.*154C>G	ENSP00000503019.1:n.*154C>G
ENST00000236671.6:c.293C>G	ENSP00000236671.2:p.Thr98Arg
ENST00000367196.3:c.188C>G	ENSP00000356164.3:p.Thr63Arg
ENST00000433655.5:c.293C>G	ENSP00000404902.1:p.Thr98Arg
ENST00000438213.5:c.248C>G	ENSP00000415036.1:p.Thr83Arg
NM_001909.4:c.293C>G	NP_001900.1:p.Thr98Arg
NM_001909.5:c.293C>G MANE Select	NP_001900.1:p.Thr98Arg