Canonical Allele Identifier: CA471985389

Gene: CTSD

Linked Data

• ClinVar Variation Id: 590121
• ClinVar RCV Id: RCV002318302
• dbSNP Id: rs1565021103
• MyVariant Identifiers: chr11:g.1778625C>G (hg19) ; chr11:g.1757395C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1757395C>G , CM000673.2:g.1757395C>G	GRCh38
NC_000011.9:g.1778625C>G , CM000673.1:g.1778625C>G	GRCh37
NC_000011.8:g.1735201C>G	NCBI36
NG_008655.1:g.11598G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.633G>C MANE Select	ENSP00000236671.2:p.Val211=
ENST00000367196.4:c.528G>C	ENSP00000356164.4:p.Val176=
ENST00000427721.3:c.58G>C
ENST00000429746.2:c.528G>C	ENSP00000402586.2:p.Val176=
ENST00000433655.6:c.633G>C	ENSP00000404902.1:p.Val211=
ENST00000438213.6:c.633G>C	ENSP00000415036.2:p.Val211=
ENST00000636397.1:c.633G>C	ENSP00000489910.1:p.Val211=
ENST00000636571.1:c.612G>C	ENSP00000490770.1:p.Val204=
ENST00000636615.1:c.633G>C	ENSP00000490014.1:p.Val211=
ENST00000636843.1:c.627G>C	ENSP00000490897.1:p.Val209=
ENST00000637158.1:n.231G>C
ENST00000637381.2:n.3061G>C
ENST00000637387.1:c.633G>C	ENSP00000490598.1:p.Val211=
ENST00000637815.2:c.633G>C	ENSP00000490344.1:p.Val211=
ENST00000637915.1:c.633G>C	ENSP00000490471.1:p.Val211=
ENST00000677300.1:n.1028G>C
ENST00000678991.1:c.*494G>C	ENSP00000503019.1:n.*494G>C
ENST00000236671.6:c.633G>C	ENSP00000236671.2:p.Val211=
ENST00000367196.3:c.528G>C	ENSP00000356164.3:p.Val176=
ENST00000427721.2:c.33G>C	ENSP00000415840.2:p.Val11=
ENST00000433655.5:c.633G>C	ENSP00000404902.1:p.Val211=
ENST00000438213.5:c.588G>C	ENSP00000415036.1:p.Val196=
NM_001909.4:c.633G>C	NP_001900.1:p.Val211=
NM_001909.5:c.633G>C MANE Select	NP_001900.1:p.Val211=