Canonical Allele Identifier: CA379092320

Gene: CTSD

Linked Data

• ClinVar Variation Id: 1016374
• ClinVar RCV Id: RCV001315368
• dbSNP Id: rs1845753565
• MyVariant Identifiers: chr11:g.1774743G>C (hg19) ; chr11:g.1753513G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753513G>C , CM000673.2:g.1753513G>C	GRCh38
NC_000011.9:g.1774743G>C , CM000673.1:g.1774743G>C	GRCh37
NC_000011.8:g.1731319G>C	NCBI36
NG_008655.1:g.15480C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.1229C>G MANE Select	ENSP00000236671.2:p.Ala410Gly
ENST00000367196.4:c.1124C>G	ENSP00000356164.4:p.Ala375Gly
ENST00000427721.3:c.634+20C>G
ENST00000429746.2:c.1124C>G	ENSP00000402586.2:p.Ala375Gly
ENST00000433655.6:c.*395C>G	ENSP00000404902.1:n.*395C>G
ENST00000438213.6:c.1346C>G	ENSP00000415036.2:p.Ala449Gly
ENST00000636397.1:c.1071+290C>G	ENSP00000489910.1:n.1071+290C>G
ENST00000636571.1:c.1208C>G	ENSP00000490770.1:p.Ala403Gly
ENST00000636579.1:c.72+290C>G	ENSP00000490489.1:n.72+290C>G
ENST00000636615.1:c.1071+290C>G	ENSP00000490014.1:n.1071+290C>G
ENST00000636843.1:c.1223C>G	ENSP00000490897.1:p.Ala408Gly
ENST00000637158.1:n.827C>G
ENST00000637381.2:n.3657C>G
ENST00000637387.1:c.1208C>G	ENSP00000490598.1:p.Ala403Gly
ENST00000637815.2:c.1211C>G	ENSP00000490344.1:p.Ala404Gly
ENST00000637915.1:c.1220C>G	ENSP00000490471.1:p.Ala407Gly
ENST00000637937.1:n.537C>G
ENST00000678991.1:c.*1090C>G	ENSP00000503019.1:n.*1090C>G
ENST00000236671.6:c.1229C>G	ENSP00000236671.2:p.Ala410Gly
ENST00000427721.2:c.471+290C>G	ENSP00000415840.2:n.471+290C>G
ENST00000429746.1:c.560C>G	ENSP00000402586.1:p.Ala187Gly
ENST00000433655.5:c.*395C>G	ENSP00000404902.1:n.*395C>G
NM_001909.4:c.1229C>G	NP_001900.1:p.Ala410Gly
NM_001909.5:c.1229C>G MANE Select	NP_001900.1:p.Ala410Gly