Canonical Allele Identifier: CA314330

Gene: CTSD

Linked Data

• ClinVar Variation Id: 205344
• ClinVar RCV Id: RCV000187300 ; RCV002516988
• dbSNP Id: rs767863175
• ExAC: 11:1774822 T / C
• gnomAD v2: 11-1774822-T-C
• gnomAD v4: 11-1753592-T-C
• MyVariant Identifiers: chr11:g.1774822T>C (hg19) ; chr11:g.1753592T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753592T>C , CM000673.2:g.1753592T>C	GRCh38
NC_000011.9:g.1774822T>C , CM000673.1:g.1774822T>C	GRCh37
NC_000011.8:g.1731398T>C	NCBI36
NG_008655.1:g.15401A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1150A>G MANE Select	ENSP00000236671.2:p.Ile384Val
ENST00000367196.4:c.1045A>G	ENSP00000356164.4:p.Ile349Val
ENST00000427721.3:c.575A>G
ENST00000429746.2:c.1045A>G	ENSP00000402586.2:p.Ile349Val
ENST00000433655.6:c.*316A>G	ENSP00000404902.1:n.*316A>G
ENST00000438213.6:c.1267A>G	ENSP00000415036.2:p.Ile423Val
ENST00000636397.1:c.1071+211A>G	ENSP00000489910.1:n.1071+211A>G
ENST00000636571.1:c.1129A>G	ENSP00000490770.1:p.Ile377Val
ENST00000636579.1:c.72+211A>G	ENSP00000490489.1:n.72+211A>G
ENST00000636615.1:c.1071+211A>G	ENSP00000490014.1:n.1071+211A>G
ENST00000636843.1:c.1144A>G	ENSP00000490897.1:p.Ile382Val
ENST00000637158.1:n.748A>G
ENST00000637381.2:n.3578A>G
ENST00000637387.1:c.1129A>G	ENSP00000490598.1:p.Ile377Val
ENST00000637815.2:c.1132A>G	ENSP00000490344.1:p.Ile378Val
ENST00000637915.1:c.1141A>G	ENSP00000490471.1:p.Ile381Val
ENST00000637937.1:n.458A>G
ENST00000678991.1:c.*1011A>G	ENSP00000503019.1:n.*1011A>G
ENST00000236671.6:c.1150A>G	ENSP00000236671.2:p.Ile384Val
ENST00000427721.2:c.471+211A>G	ENSP00000415840.2:n.471+211A>G
ENST00000429746.1:c.481A>G	ENSP00000402586.1:p.Ile161Val
ENST00000433655.5:c.*316A>G	ENSP00000404902.1:n.*316A>G
NM_001909.4:c.1150A>G	NP_001900.1:p.Ile384Val
NM_001909.5:c.1150A>G MANE Select	NP_001900.1:p.Ile384Val