Canonical Allele Identifier: CA314312

Gene: CTSD

Linked Data

• ClinVar Variation Id: 205335
• ClinVar RCV Id: RCV000862792 ; RCV001108795 ; RCV001721192 ; RCV002314713
• dbSNP Id: rs143517230
• ExAC: 11:1782613 C / T
• gnomAD v2: 11-1782613-C-T
• gnomAD v3: 11-1761383-C-T
• gnomAD v4: 11-1761383-C-T
• COSMIC: COSM1352947
• MyVariant Identifiers: chr11:g.1782613C>T (hg19) ; chr11:g.1782613_1782614delinsTG (hg19) ; chr11:g.1761383C>T (hg38) ; chr11:g.1761383_1761384delinsTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1761383C>T , CM000673.2:g.1761383C>T	GRCh38
NC_000011.9:g.1782613C>T , CM000673.1:g.1782613C>T	GRCh37
NC_000011.8:g.1739189C>T	NCBI36
NG_008655.1:g.7610G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.154G>A MANE Select	ENSP00000236671.2:p.Val52Ile
ENST00000367196.4:c.49G>A	ENSP00000356164.4:p.Val17Ile
ENST00000429746.2:c.49G>A	ENSP00000402586.2:p.Val17Ile
ENST00000433655.6:c.154G>A	ENSP00000404902.1:p.Val52Ile
ENST00000438213.6:c.154G>A	ENSP00000415036.2:p.Val52Ile
ENST00000636397.1:c.154G>A	ENSP00000489910.1:p.Val52Ile
ENST00000636571.1:c.154G>A	ENSP00000490770.1:p.Val52Ile
ENST00000636615.1:c.154G>A	ENSP00000490014.1:p.Val52Ile
ENST00000636843.1:c.154G>A	ENSP00000490897.1:p.Val52Ile
ENST00000637381.2:n.2582G>A
ENST00000637387.1:c.154G>A	ENSP00000490598.1:p.Val52Ile
ENST00000637815.2:c.154G>A	ENSP00000490344.1:p.Val52Ile
ENST00000637915.1:c.154G>A	ENSP00000490471.1:p.Val52Ile
ENST00000678991.1:c.*15G>A	ENSP00000503019.1:n.*15G>A
ENST00000236671.6:c.154G>A	ENSP00000236671.2:p.Val52Ile
ENST00000367196.3:c.49G>A	ENSP00000356164.3:p.Val17Ile
ENST00000433655.5:c.154G>A	ENSP00000404902.1:p.Val52Ile
ENST00000438213.5:c.109G>A	ENSP00000415036.1:p.Val37Ile
NM_001909.4:c.154G>A	NP_001900.1:p.Val52Ile
NM_001909.5:c.154G>A MANE Select	NP_001900.1:p.Val52Ile