Canonical Allele Identifier: CA379092383

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1774773T>C (hg19) ; chr11:g.1753543T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753543T>C , CM000673.2:g.1753543T>C	GRCh38
NC_000011.9:g.1774773T>C , CM000673.1:g.1774773T>C	GRCh37
NC_000011.8:g.1731349T>C	NCBI36
NG_008655.1:g.15450A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1199A>G MANE Select	ENSP00000236671.2:p.Asp400Gly
ENST00000367196.4:c.1094A>G	ENSP00000356164.4:p.Asp365Gly
ENST00000427721.3:c.624A>G
ENST00000429746.2:c.1094A>G	ENSP00000402586.2:p.Asp365Gly
ENST00000433655.6:c.*365A>G	ENSP00000404902.1:n.*365A>G
ENST00000438213.6:c.1316A>G	ENSP00000415036.2:p.Asp439Gly
ENST00000636397.1:c.1071+260A>G	ENSP00000489910.1:n.1071+260A>G
ENST00000636571.1:c.1178A>G	ENSP00000490770.1:p.Asp393Gly
ENST00000636579.1:c.72+260A>G	ENSP00000490489.1:n.72+260A>G
ENST00000636615.1:c.1071+260A>G	ENSP00000490014.1:n.1071+260A>G
ENST00000636843.1:c.1193A>G	ENSP00000490897.1:p.Asp398Gly
ENST00000637158.1:n.797A>G
ENST00000637381.2:n.3627A>G
ENST00000637387.1:c.1178A>G	ENSP00000490598.1:p.Asp393Gly
ENST00000637815.2:c.1181A>G	ENSP00000490344.1:p.Asp394Gly
ENST00000637915.1:c.1190A>G	ENSP00000490471.1:p.Asp397Gly
ENST00000637937.1:n.507A>G
ENST00000678991.1:c.*1060A>G	ENSP00000503019.1:n.*1060A>G
ENST00000236671.6:c.1199A>G	ENSP00000236671.2:p.Asp400Gly
ENST00000427721.2:c.471+260A>G	ENSP00000415840.2:n.471+260A>G
ENST00000429746.1:c.530A>G	ENSP00000402586.1:p.Asp177Gly
ENST00000433655.5:c.*365A>G	ENSP00000404902.1:n.*365A>G
NM_001909.4:c.1199A>G	NP_001900.1:p.Asp400Gly
NM_001909.5:c.1199A>G MANE Select	NP_001900.1:p.Asp400Gly