Canonical Allele Identifier: CA5814283

Gene: CTSD

Linked Data

• ClinVar Variation Id: 452273
• ClinVar RCV Id: RCV000521394 ; RCV001853677
• dbSNP Id: rs573939509
• ExAC: 11:1782632 G / C
• gnomAD v2: 11-1782632-G-C
• gnomAD v3: 11-1761402-G-C
• gnomAD v4: 11-1761402-G-C
• MyVariant Identifiers: chr11:g.1782632G>C (hg19) ; chr11:g.1761402G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1761402G>C , CM000673.2:g.1761402G>C	GRCh38
NC_000011.9:g.1782632G>C , CM000673.1:g.1782632G>C	GRCh37
NC_000011.8:g.1739208G>C	NCBI36
NG_008655.1:g.7591C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.135C>G MANE Select	ENSP00000236671.2:p.Asp45Glu
ENST00000367196.4:c.30C>G	ENSP00000356164.4:p.Asp10Glu
ENST00000429746.2:c.30C>G	ENSP00000402586.2:p.Asp10Glu
ENST00000433655.6:c.135C>G	ENSP00000404902.1:p.Asp45Glu
ENST00000438213.6:c.135C>G	ENSP00000415036.2:p.Asp45Glu
ENST00000636397.1:c.135C>G	ENSP00000489910.1:p.Asp45Glu
ENST00000636571.1:c.135C>G	ENSP00000490770.1:p.Asp45Glu
ENST00000636615.1:c.135C>G	ENSP00000490014.1:p.Asp45Glu
ENST00000636843.1:c.135C>G	ENSP00000490897.1:p.Asp45Glu
ENST00000637381.2:n.2563C>G
ENST00000637387.1:c.135C>G	ENSP00000490598.1:p.Asp45Glu
ENST00000637815.2:c.135C>G	ENSP00000490344.1:p.Asp45Glu
ENST00000637915.1:c.135C>G	ENSP00000490471.1:p.Asp45Glu
ENST00000678991.1:c.278C>G	ENSP00000503019.1:p.Thr93Ser
ENST00000236671.6:c.135C>G	ENSP00000236671.2:p.Asp45Glu
ENST00000367196.3:c.30C>G	ENSP00000356164.3:p.Asp10Glu
ENST00000433655.5:c.135C>G	ENSP00000404902.1:p.Asp45Glu
ENST00000438213.5:c.90C>G	ENSP00000415036.1:p.Asp30Glu
NM_001909.4:c.135C>G	NP_001900.1:p.Asp45Glu
NM_001909.5:c.135C>G MANE Select	NP_001900.1:p.Asp45Glu