Canonical Allele Identifier: CA5814233

Gene: CTSD

Linked Data

• ClinVar Variation Id: 284020
• ClinVar RCV Id: RCV000326932
• dbSNP Id: rs367743333
• ExAC: 11:1780752 C / T
• gnomAD v2: 11-1780752-C-T
• gnomAD v3: 11-1759522-C-T
• gnomAD v4: 11-1759522-C-T
• MyVariant Identifiers: chr11:g.1780752C>T (hg19) ; chr11:g.1759522C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1759522C>T , CM000673.2:g.1759522C>T	GRCh38
NC_000011.9:g.1780752C>T , CM000673.1:g.1780752C>T	GRCh37
NC_000011.8:g.1737328C>T	NCBI36
NG_008655.1:g.9471G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.346G>A MANE Select	ENSP00000236671.2:p.Ala116Thr
ENST00000367196.4:c.241G>A	ENSP00000356164.4:p.Ala81Thr
ENST00000429746.2:c.241G>A	ENSP00000402586.2:p.Ala81Thr
ENST00000433655.6:c.346G>A	ENSP00000404902.1:p.Ala116Thr
ENST00000438213.6:c.346G>A	ENSP00000415036.2:p.Ala116Thr
ENST00000636397.1:c.346G>A	ENSP00000489910.1:p.Ala116Thr
ENST00000636571.1:c.325G>A	ENSP00000490770.1:p.Ala109Thr
ENST00000636615.1:c.346G>A	ENSP00000490014.1:p.Ala116Thr
ENST00000636843.1:c.340G>A	ENSP00000490897.1:p.Ala114Thr
ENST00000637381.2:n.2774G>A
ENST00000637387.1:c.346G>A	ENSP00000490598.1:p.Ala116Thr
ENST00000637815.2:c.346G>A	ENSP00000490344.1:p.Ala116Thr
ENST00000637915.1:c.346G>A	ENSP00000490471.1:p.Ala116Thr
ENST00000677300.1:n.741G>A
ENST00000678991.1:c.*207G>A	ENSP00000503019.1:n.*207G>A
ENST00000236671.6:c.346G>A	ENSP00000236671.2:p.Ala116Thr
ENST00000367196.3:c.241G>A	ENSP00000356164.3:p.Ala81Thr
ENST00000433655.5:c.346G>A	ENSP00000404902.1:p.Ala116Thr
ENST00000438213.5:c.301G>A	ENSP00000415036.1:p.Ala101Thr
NM_001909.4:c.346G>A	NP_001900.1:p.Ala116Thr
NM_001909.5:c.346G>A MANE Select	NP_001900.1:p.Ala116Thr