Canonical Allele Identifier: CA314328

Gene: CTSD

Linked Data

• ClinVar Variation Id: 205343
• ClinVar RCV Id: RCV000810246 ; RCV001108709
• dbSNP Id: rs796052398
• gnomAD v4: 11-1753623-C-G
• MyVariant Identifiers: chr11:g.1774853C>G (hg19) ; chr11:g.1753623C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753623C>G , CM000673.2:g.1753623C>G	GRCh38
NC_000011.9:g.1774853C>G , CM000673.1:g.1774853C>G	GRCh37
NC_000011.8:g.1731429C>G	NCBI36
NG_008655.1:g.15370G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1119G>C MANE Select	ENSP00000236671.2:p.Met373Ile
ENST00000367196.4:c.1014G>C	ENSP00000356164.4:p.Met338Ile
ENST00000427721.3:c.544G>C
ENST00000429746.2:c.1014G>C	ENSP00000402586.2:p.Met338Ile
ENST00000433655.6:c.*285G>C	ENSP00000404902.1:n.*285G>C
ENST00000438213.6:c.1236G>C	ENSP00000415036.2:p.Met412Ile
ENST00000636397.1:c.1071+180G>C	ENSP00000489910.1:n.1071+180G>C
ENST00000636571.1:c.1098G>C	ENSP00000490770.1:p.Met366Ile
ENST00000636579.1:c.72+180G>C	ENSP00000490489.1:n.72+180G>C
ENST00000636615.1:c.1071+180G>C	ENSP00000490014.1:n.1071+180G>C
ENST00000636843.1:c.1113G>C	ENSP00000490897.1:p.Met371Ile
ENST00000637158.1:n.717G>C
ENST00000637381.2:n.3547G>C
ENST00000637387.1:c.1098G>C	ENSP00000490598.1:p.Met366Ile
ENST00000637815.2:c.1101G>C	ENSP00000490344.1:p.Met367Ile
ENST00000637915.1:c.1110G>C	ENSP00000490471.1:p.Met370Ile
ENST00000637937.1:n.427G>C
ENST00000678991.1:c.*980G>C	ENSP00000503019.1:n.*980G>C
ENST00000236671.6:c.1119G>C	ENSP00000236671.2:p.Met373Ile
ENST00000427721.2:c.471+180G>C	ENSP00000415840.2:n.471+180G>C
ENST00000429746.1:c.450G>C	ENSP00000402586.1:p.Met150Ile
ENST00000433655.5:c.*285G>C	ENSP00000404902.1:n.*285G>C
NM_001909.4:c.1119G>C	NP_001900.1:p.Met373Ile
NM_001909.5:c.1119G>C MANE Select	NP_001900.1:p.Met373Ile