Canonical Allele Identifier: CA5813865

Gene: CTSD

Linked Data

• ClinVar Variation Id: 1018084
• ClinVar RCV Id: RCV001317334 ; RCV001760388
• dbSNP Id: rs766987476
• ExAC: 11:1774741 G / A
• gnomAD v2: 11-1774741-G-A
• gnomAD v3: 11-1753511-G-A
• gnomAD v4: 11-1753511-G-A
• MyVariant Identifiers: chr11:g.1774741G>A (hg19) ; chr11:g.1753511G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753511G>A , CM000673.2:g.1753511G>A	GRCh38
NC_000011.9:g.1774741G>A , CM000673.1:g.1774741G>A	GRCh37
NC_000011.8:g.1731317G>A	NCBI36
NG_008655.1:g.15482C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.1231C>T MANE Select	ENSP00000236671.2:p.Arg411Cys
ENST00000367196.4:c.1126C>T	ENSP00000356164.4:p.Arg376Cys
ENST00000427721.3:c.634+22C>T
ENST00000429746.2:c.1126C>T	ENSP00000402586.2:p.Arg376Cys
ENST00000433655.6:c.*397C>T	ENSP00000404902.1:n.*397C>T
ENST00000438213.6:c.1348C>T	ENSP00000415036.2:p.Arg450Cys
ENST00000636397.1:c.1071+292C>T	ENSP00000489910.1:n.1071+292C>T
ENST00000636571.1:c.1210C>T	ENSP00000490770.1:p.Arg404Cys
ENST00000636579.1:c.72+292C>T	ENSP00000490489.1:n.72+292C>T
ENST00000636615.1:c.1071+292C>T	ENSP00000490014.1:n.1071+292C>T
ENST00000636843.1:c.1225C>T	ENSP00000490897.1:p.Arg409Cys
ENST00000637158.1:n.829C>T
ENST00000637381.2:n.3659C>T
ENST00000637387.1:c.1210C>T	ENSP00000490598.1:p.Arg404Cys
ENST00000637815.2:c.1213C>T	ENSP00000490344.1:p.Arg405Cys
ENST00000637915.1:c.1222C>T	ENSP00000490471.1:p.Arg408Cys
ENST00000637937.1:n.539C>T
ENST00000678991.1:c.*1092C>T	ENSP00000503019.1:n.*1092C>T
ENST00000236671.6:c.1231C>T	ENSP00000236671.2:p.Arg411Cys
ENST00000427721.2:c.471+292C>T	ENSP00000415840.2:n.471+292C>T
ENST00000429746.1:c.562C>T	ENSP00000402586.1:p.Arg188Cys
ENST00000433655.5:c.*397C>T	ENSP00000404902.1:n.*397C>T
NM_001909.4:c.1231C>T	NP_001900.1:p.Arg411Cys
NM_001909.5:c.1231C>T MANE Select	NP_001900.1:p.Arg411Cys