Canonical Allele Identifier: CA379093348

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1775115T>C (hg19) ; chr11:g.1753885T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753885T>C , CM000673.2:g.1753885T>C	GRCh38
NC_000011.9:g.1775115T>C , CM000673.1:g.1775115T>C	GRCh37
NC_000011.8:g.1731691T>C	NCBI36
NG_008655.1:g.15108A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.989A>G MANE Select	ENSP00000236671.2:p.Glu330Gly
ENST00000367196.4:c.884A>G	ENSP00000356164.4:p.Glu295Gly
ENST00000427721.3:c.414A>G
ENST00000429746.2:c.884A>G	ENSP00000402586.2:p.Glu295Gly
ENST00000433655.6:c.*155A>G	ENSP00000404902.1:n.*155A>G
ENST00000438213.6:c.1106A>G	ENSP00000415036.2:p.Glu369Gly
ENST00000497544.3:n.697A>G
ENST00000636397.1:c.989A>G	ENSP00000489910.1:p.Glu330Gly
ENST00000636571.1:c.968A>G	ENSP00000490770.1:p.Glu323Gly
ENST00000636615.1:c.989A>G	ENSP00000490014.1:p.Glu330Gly
ENST00000636843.1:c.983A>G	ENSP00000490897.1:p.Glu328Gly
ENST00000637158.1:n.587A>G
ENST00000637381.2:n.3417A>G
ENST00000637387.1:c.973-5A>G	ENSP00000490598.1:n.973-5A>G
ENST00000637815.2:c.971A>G	ENSP00000490344.1:p.Glu324Gly
ENST00000637915.1:c.989A>G	ENSP00000490471.1:p.Glu330Gly
ENST00000637937.1:n.297A>G
ENST00000678991.1:c.*850A>G	ENSP00000503019.1:n.*850A>G
ENST00000236671.6:c.989A>G	ENSP00000236671.2:p.Glu330Gly
ENST00000427721.2:c.389A>G	ENSP00000415840.2:p.Glu130Gly
ENST00000429746.1:c.320A>G	ENSP00000402586.1:p.Glu107Gly
ENST00000433655.5:c.*155A>G	ENSP00000404902.1:n.*155A>G
ENST00000497544.1:n.697A>G
NM_001909.4:c.989A>G	NP_001900.1:p.Glu330Gly
NM_001909.5:c.989A>G MANE Select	NP_001900.1:p.Glu330Gly