Canonical Allele Identifier: CA379093161

Gene: CTSD

Linked Data

• ClinVar Variation Id: 877668
• ClinVar RCV Id: RCV001103555 ; RCV002298872
• dbSNP Id: rs1845759906
• gnomAD v4: 11-1753840-T-C
• MyVariant Identifiers: chr11:g.1775070T>C (hg19) ; chr11:g.1753840T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753840T>C , CM000673.2:g.1753840T>C	GRCh38
NC_000011.9:g.1775070T>C , CM000673.1:g.1775070T>C	GRCh37
NC_000011.8:g.1731646T>C	NCBI36
NG_008655.1:g.15153A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1034A>G MANE Select	ENSP00000236671.2:p.Lys345Arg
ENST00000367196.4:c.929A>G	ENSP00000356164.4:p.Lys310Arg
ENST00000427721.3:c.459A>G
ENST00000429746.2:c.929A>G	ENSP00000402586.2:p.Lys310Arg
ENST00000433655.6:c.*200A>G	ENSP00000404902.1:n.*200A>G
ENST00000438213.6:c.1151A>G	ENSP00000415036.2:p.Lys384Arg
ENST00000497544.3:n.742A>G
ENST00000636397.1:c.1034A>G	ENSP00000489910.1:p.Lys345Arg
ENST00000636571.1:c.1013A>G	ENSP00000490770.1:p.Lys338Arg
ENST00000636579.1:c.35A>G	ENSP00000490489.1:p.Lys12Arg
ENST00000636615.1:c.1034A>G	ENSP00000490014.1:p.Lys345Arg
ENST00000636843.1:c.1028A>G	ENSP00000490897.1:p.Lys343Arg
ENST00000637158.1:n.632A>G
ENST00000637381.2:n.3462A>G
ENST00000637387.1:c.1013A>G	ENSP00000490598.1:p.Lys338Arg
ENST00000637815.2:c.1016A>G	ENSP00000490344.1:p.Lys339Arg
ENST00000637915.1:c.1034A>G	ENSP00000490471.1:p.Lys345Arg
ENST00000637937.1:n.342A>G
ENST00000678991.1:c.*895A>G	ENSP00000503019.1:n.*895A>G
ENST00000236671.6:c.1034A>G	ENSP00000236671.2:p.Lys345Arg
ENST00000427721.2:c.434A>G	ENSP00000415840.2:p.Lys145Arg
ENST00000429746.1:c.365A>G	ENSP00000402586.1:p.Lys122Arg
ENST00000433655.5:c.*200A>G	ENSP00000404902.1:n.*200A>G
ENST00000497544.1:n.742A>G
NM_001909.4:c.1034A>G	NP_001900.1:p.Lys345Arg
NM_001909.5:c.1034A>G MANE Select	NP_001900.1:p.Lys345Arg