Canonical Allele Identifier: CA5814241

Gene: CTSD

Linked Data

• ClinVar Variation Id: 423805
• ClinVar RCV Id: RCV000483803 ; RCV000796838 ; RCV001106639 ; RCV001844175
• dbSNP Id: rs141482597
• ExAC: 11:1780815 C / T
• gnomAD v2: 11-1780815-C-T
• gnomAD v3: 11-1759585-C-T
• gnomAD v4: 11-1759585-C-T
• MyVariant Identifiers: chr11:g.1780815C>T (hg19) ; chr11:g.1759585C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1759585C>T , CM000673.2:g.1759585C>T	GRCh38
NC_000011.9:g.1780815C>T , CM000673.1:g.1780815C>T	GRCh37
NC_000011.8:g.1737391C>T	NCBI36
NG_008655.1:g.9408G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.283G>A MANE Select	ENSP00000236671.2:p.Val95Ile
ENST00000367196.4:c.178G>A	ENSP00000356164.4:p.Val60Ile
ENST00000429746.2:c.178G>A	ENSP00000402586.2:p.Val60Ile
ENST00000433655.6:c.283G>A	ENSP00000404902.1:p.Val95Ile
ENST00000438213.6:c.283G>A	ENSP00000415036.2:p.Val95Ile
ENST00000636397.1:c.283G>A	ENSP00000489910.1:p.Val95Ile
ENST00000636571.1:c.262G>A	ENSP00000490770.1:p.Val88Ile
ENST00000636615.1:c.283G>A	ENSP00000490014.1:p.Val95Ile
ENST00000636843.1:c.277G>A	ENSP00000490897.1:p.Val93Ile
ENST00000637381.2:n.2711G>A
ENST00000637387.1:c.283G>A	ENSP00000490598.1:p.Val95Ile
ENST00000637815.2:c.283G>A	ENSP00000490344.1:p.Val95Ile
ENST00000637915.1:c.283G>A	ENSP00000490471.1:p.Val95Ile
ENST00000677300.1:n.678G>A
ENST00000678991.1:c.*144G>A	ENSP00000503019.1:n.*144G>A
ENST00000236671.6:c.283G>A	ENSP00000236671.2:p.Val95Ile
ENST00000367196.3:c.178G>A	ENSP00000356164.3:p.Val60Ile
ENST00000433655.5:c.283G>A	ENSP00000404902.1:p.Val95Ile
ENST00000438213.5:c.238G>A	ENSP00000415036.1:p.Val80Ile
NM_001909.4:c.283G>A	NP_001900.1:p.Val95Ile
NM_001909.5:c.283G>A MANE Select	NP_001900.1:p.Val95Ile