Canonical Allele Identifier: CA379092488

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1774812T>C (hg19) ; chr11:g.1753582T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753582T>C , CM000673.2:g.1753582T>C	GRCh38
NC_000011.9:g.1774812T>C , CM000673.1:g.1774812T>C	GRCh37
NC_000011.8:g.1731388T>C	NCBI36
NG_008655.1:g.15411A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1160A>G MANE Select	ENSP00000236671.2:p.Asp387Gly
ENST00000367196.4:c.1055A>G	ENSP00000356164.4:p.Asp352Gly
ENST00000427721.3:c.585A>G
ENST00000429746.2:c.1055A>G	ENSP00000402586.2:p.Asp352Gly
ENST00000433655.6:c.*326A>G	ENSP00000404902.1:n.*326A>G
ENST00000438213.6:c.1277A>G	ENSP00000415036.2:p.Asp426Gly
ENST00000636397.1:c.1071+221A>G	ENSP00000489910.1:n.1071+221A>G
ENST00000636571.1:c.1139A>G	ENSP00000490770.1:p.Asp380Gly
ENST00000636579.1:c.72+221A>G	ENSP00000490489.1:n.72+221A>G
ENST00000636615.1:c.1071+221A>G	ENSP00000490014.1:n.1071+221A>G
ENST00000636843.1:c.1154A>G	ENSP00000490897.1:p.Asp385Gly
ENST00000637158.1:n.758A>G
ENST00000637381.2:n.3588A>G
ENST00000637387.1:c.1139A>G	ENSP00000490598.1:p.Asp380Gly
ENST00000637815.2:c.1142A>G	ENSP00000490344.1:p.Asp381Gly
ENST00000637915.1:c.1151A>G	ENSP00000490471.1:p.Asp384Gly
ENST00000637937.1:n.468A>G
ENST00000678991.1:c.*1021A>G	ENSP00000503019.1:n.*1021A>G
ENST00000236671.6:c.1160A>G	ENSP00000236671.2:p.Asp387Gly
ENST00000427721.2:c.471+221A>G	ENSP00000415840.2:n.471+221A>G
ENST00000429746.1:c.491A>G	ENSP00000402586.1:p.Asp164Gly
ENST00000433655.5:c.*326A>G	ENSP00000404902.1:n.*326A>G
NM_001909.4:c.1160A>G	NP_001900.1:p.Asp387Gly
NM_001909.5:c.1160A>G MANE Select	NP_001900.1:p.Asp387Gly