Canonical Allele Identifier: CA10634227

Gene: CTSD

Linked Data

• ClinVar Variation Id: 303824
• ClinVar RCV Id: RCV000289130
• dbSNP Id: rs140852332
• gnomAD v2: 11-1774330-G-A
• gnomAD v3: 11-1753100-G-A
• gnomAD v4: 11-1753100-G-A
• MyVariant Identifiers: chr11:g.1774330G>A (hg19) ; chr11:g.1753100G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753100G>A , CM000673.2:g.1753100G>A	GRCh38
NC_000011.9:g.1774330G>A , CM000673.1:g.1774330G>A	GRCh37
NC_000011.8:g.1730906G>A	NCBI36
NG_008655.1:g.15893C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.*403C>T MANE Select	ENSP00000236671.2:n.*403C>T
ENST00000367196.4:c.*403C>T	ENSP00000356164.4:n.*403C>T
ENST00000427721.3:c.634+433C>T
ENST00000429746.2:c.*403C>T	ENSP00000402586.2:n.*403C>T
ENST00000433655.6:c.*808C>T	ENSP00000404902.1:n.*808C>T
ENST00000636397.1:c.1071+703C>T	ENSP00000489910.1:n.1071+703C>T
ENST00000636571.1:c.*403C>T	ENSP00000490770.1:n.*403C>T
ENST00000636579.1:c.72+703C>T	ENSP00000490489.1:n.72+703C>T
ENST00000636615.1:c.1071+703C>T	ENSP00000490014.1:n.1071+703C>T
ENST00000637381.2:n.4070C>T
ENST00000637815.2:c.*403C>T	ENSP00000490344.1:n.*403C>T
ENST00000637915.1:c.*403C>T	ENSP00000490471.1:n.*403C>T
ENST00000637937.1:n.950C>T
ENST00000678991.1:c.*1503C>T	ENSP00000503019.1:n.*1503C>T
ENST00000236671.6:c.*403C>T	ENSP00000236671.2:n.*403C>T
ENST00000427721.2:c.471+703C>T	ENSP00000415840.2:n.471+703C>T
ENST00000433655.5:c.*808C>T	ENSP00000404902.1:n.*808C>T
NM_001909.4:c.*403C>T	NP_001900.1:n.*403C>T
NM_001909.5:c.*403C>T MANE Select	NP_001900.1:n.*403C>T