Canonical Allele Identifier: CA5813864

Gene: CTSD

Linked Data

• ClinVar Variation Id: 859061
• ClinVar RCV Id: RCV001065084 ; RCV002365756 ; RCV003145328
• dbSNP Id: rs200303993
• ExAC: 11:1774740 C / T
• gnomAD v2: 11-1774740-C-T
• gnomAD v3: 11-1753510-C-T
• gnomAD v4: 11-1753510-C-T
• COSMIC: COSM541789
• MyVariant Identifiers: chr11:g.1774740C>T (hg19) ; chr11:g.1753510C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753510C>T , CM000673.2:g.1753510C>T	GRCh38
NC_000011.9:g.1774740C>T , CM000673.1:g.1774740C>T	GRCh37
NC_000011.8:g.1731316C>T	NCBI36
NG_008655.1:g.15483G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.1232G>A MANE Select	ENSP00000236671.2:p.Arg411His
ENST00000367196.4:c.1127G>A	ENSP00000356164.4:p.Arg376His
ENST00000427721.3:c.634+23G>A
ENST00000429746.2:c.1127G>A	ENSP00000402586.2:p.Arg376His
ENST00000433655.6:c.*398G>A	ENSP00000404902.1:n.*398G>A
ENST00000438213.6:c.1349G>A	ENSP00000415036.2:p.Arg450His
ENST00000636397.1:c.1071+293G>A	ENSP00000489910.1:n.1071+293G>A
ENST00000636571.1:c.1211G>A	ENSP00000490770.1:p.Arg404His
ENST00000636579.1:c.72+293G>A	ENSP00000490489.1:n.72+293G>A
ENST00000636615.1:c.1071+293G>A	ENSP00000490014.1:n.1071+293G>A
ENST00000636843.1:c.1226G>A	ENSP00000490897.1:p.Arg409His
ENST00000637158.1:n.830G>A
ENST00000637381.2:n.3660G>A
ENST00000637387.1:c.1211G>A	ENSP00000490598.1:p.Arg404His
ENST00000637815.2:c.1214G>A	ENSP00000490344.1:p.Arg405His
ENST00000637915.1:c.1223G>A	ENSP00000490471.1:p.Arg408His
ENST00000637937.1:n.540G>A
ENST00000678991.1:c.*1093G>A	ENSP00000503019.1:n.*1093G>A
ENST00000236671.6:c.1232G>A	ENSP00000236671.2:p.Arg411His
ENST00000427721.2:c.471+293G>A	ENSP00000415840.2:n.471+293G>A
ENST00000429746.1:c.563G>A	ENSP00000402586.1:p.Arg188His
ENST00000433655.5:c.*398G>A	ENSP00000404902.1:n.*398G>A
NM_001909.4:c.1232G>A	NP_001900.1:p.Arg411His
NM_001909.5:c.1232G>A MANE Select	NP_001900.1:p.Arg411His