Canonical Allele Identifier: CA379097960

Gene: CTSD

Linked Data

• ClinVar Variation Id: 1984385
• ClinVar RCV Id: RCV002756799
• dbSNP Id: rs1371823186
• gnomAD v4: 11-1759521-G-A
• MyVariant Identifiers: chr11:g.1780751G>A (hg19) ; chr11:g.1759521G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1759521G>A , CM000673.2:g.1759521G>A	GRCh38
NC_000011.9:g.1780751G>A , CM000673.1:g.1780751G>A	GRCh37
NC_000011.8:g.1737327G>A	NCBI36
NG_008655.1:g.9472C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.347C>T MANE Select	ENSP00000236671.2:p.Ala116Val
ENST00000367196.4:c.242C>T	ENSP00000356164.4:p.Ala81Val
ENST00000429746.2:c.242C>T	ENSP00000402586.2:p.Ala81Val
ENST00000433655.6:c.347C>T	ENSP00000404902.1:p.Ala116Val
ENST00000438213.6:c.347C>T	ENSP00000415036.2:p.Ala116Val
ENST00000636397.1:c.347C>T	ENSP00000489910.1:p.Ala116Val
ENST00000636571.1:c.326C>T	ENSP00000490770.1:p.Ala109Val
ENST00000636615.1:c.347C>T	ENSP00000490014.1:p.Ala116Val
ENST00000636843.1:c.341C>T	ENSP00000490897.1:p.Ala114Val
ENST00000637381.2:n.2775C>T
ENST00000637387.1:c.347C>T	ENSP00000490598.1:p.Ala116Val
ENST00000637815.2:c.347C>T	ENSP00000490344.1:p.Ala116Val
ENST00000637915.1:c.347C>T	ENSP00000490471.1:p.Ala116Val
ENST00000677300.1:n.742C>T
ENST00000678991.1:c.*208C>T	ENSP00000503019.1:n.*208C>T
ENST00000236671.6:c.347C>T	ENSP00000236671.2:p.Ala116Val
ENST00000367196.3:c.242C>T	ENSP00000356164.3:p.Ala81Val
ENST00000433655.5:c.347C>T	ENSP00000404902.1:p.Ala116Val
ENST00000438213.5:c.302C>T	ENSP00000415036.1:p.Ala101Val
NM_001909.4:c.347C>T	NP_001900.1:p.Ala116Val
NM_001909.5:c.347C>T MANE Select	NP_001900.1:p.Ala116Val