Canonical Allele Identifier: CA379093413

Gene: CTSD

Linked Data

• ClinVar Variation Id: 1041358
• ClinVar RCV Id: RCV001345158
• dbSNP Id: rs1425884068
• gnomAD v2: 11-1775128-T-C
• gnomAD v4: 11-1753898-T-C
• MyVariant Identifiers: chr11:g.1775128T>C (hg19) ; chr11:g.1753898T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753898T>C , CM000673.2:g.1753898T>C	GRCh38
NC_000011.9:g.1775128T>C , CM000673.1:g.1775128T>C	GRCh37
NC_000011.8:g.1731704T>C	NCBI36
NG_008655.1:g.15095A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.976A>G MANE Select	ENSP00000236671.2:p.Met326Val
ENST00000367196.4:c.871A>G	ENSP00000356164.4:p.Met291Val
ENST00000427721.3:c.401A>G
ENST00000429746.2:c.871A>G	ENSP00000402586.2:p.Met291Val
ENST00000433655.6:c.*142A>G	ENSP00000404902.1:n.*142A>G
ENST00000438213.6:c.1093A>G	ENSP00000415036.2:p.Met365Val
ENST00000497544.3:n.684A>G
ENST00000636397.1:c.976A>G	ENSP00000489910.1:p.Met326Val
ENST00000636571.1:c.955A>G	ENSP00000490770.1:p.Met319Val
ENST00000636615.1:c.976A>G	ENSP00000490014.1:p.Met326Val
ENST00000636843.1:c.970A>G	ENSP00000490897.1:p.Met324Val
ENST00000637158.1:n.574A>G
ENST00000637381.2:n.3404A>G
ENST00000637387.1:c.973-18A>G	ENSP00000490598.1:n.973-18A>G
ENST00000637815.2:c.958A>G	ENSP00000490344.1:p.Met320Val
ENST00000637915.1:c.976A>G	ENSP00000490471.1:p.Met326Val
ENST00000637937.1:n.284A>G
ENST00000678991.1:c.*837A>G	ENSP00000503019.1:n.*837A>G
ENST00000236671.6:c.976A>G	ENSP00000236671.2:p.Met326Val
ENST00000427721.2:c.376A>G	ENSP00000415840.2:p.Met126Val
ENST00000429746.1:c.307A>G	ENSP00000402586.1:p.Met103Val
ENST00000433655.5:c.*142A>G	ENSP00000404902.1:n.*142A>G
ENST00000497544.1:n.684A>G
NM_001909.4:c.976A>G	NP_001900.1:p.Met326Val
NM_001909.5:c.976A>G MANE Select	NP_001900.1:p.Met326Val