Canonical Allele Identifier: CA5813856

Gene: CTSD

Linked Data

• ClinVar Variation Id: 388189
• ClinVar RCV Id: RCV000420930
• dbSNP Id: rs201616935
• ExAC: 11:1774716 C / T
• gnomAD v2: 11-1774716-C-T
• gnomAD v3: 11-1753486-C-T
• gnomAD v4: 11-1753486-C-T
• MyVariant Identifiers: chr11:g.1774716C>T (hg19) ; chr11:g.1753486C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753486C>T , CM000673.2:g.1753486C>T	GRCh38
NC_000011.9:g.1774716C>T , CM000673.1:g.1774716C>T	GRCh37
NC_000011.8:g.1731292C>T	NCBI36
NG_008655.1:g.15507G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.*17G>A MANE Select	ENSP00000236671.2:n.*17G>A
ENST00000367196.4:c.*17G>A	ENSP00000356164.4:n.*17G>A
ENST00000427721.3:c.634+47G>A
ENST00000429746.2:c.*17G>A	ENSP00000402586.2:n.*17G>A
ENST00000433655.6:c.*422G>A	ENSP00000404902.1:n.*422G>A
ENST00000438213.6:c.*17G>A	ENSP00000415036.2:n.*17G>A
ENST00000636397.1:c.1071+317G>A	ENSP00000489910.1:n.1071+317G>A
ENST00000636571.1:c.*17G>A	ENSP00000490770.1:n.*17G>A
ENST00000636579.1:c.72+317G>A	ENSP00000490489.1:n.72+317G>A
ENST00000636615.1:c.1071+317G>A	ENSP00000490014.1:n.1071+317G>A
ENST00000636843.1:c.*17G>A	ENSP00000490897.1:n.*17G>A
ENST00000637158.1:n.854G>A
ENST00000637381.2:n.3684G>A
ENST00000637387.1:c.*17G>A	ENSP00000490598.1:n.*17G>A
ENST00000637815.2:c.*17G>A	ENSP00000490344.1:n.*17G>A
ENST00000637915.1:c.*17G>A	ENSP00000490471.1:n.*17G>A
ENST00000637937.1:n.564G>A
ENST00000678991.1:c.*1117G>A	ENSP00000503019.1:n.*1117G>A
ENST00000236671.6:c.*17G>A	ENSP00000236671.2:n.*17G>A
ENST00000427721.2:c.471+317G>A	ENSP00000415840.2:n.471+317G>A
ENST00000429746.1:c.587G>A	ENSP00000402586.1:n.587G>A
ENST00000433655.5:c.*422G>A	ENSP00000404902.1:n.*422G>A
NM_001909.4:c.*17G>A	NP_001900.1:n.*17G>A
NM_001909.5:c.*17G>A MANE Select	NP_001900.1:n.*17G>A