Canonical Allele Identifier: CA379093798

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1775277C>T (hg19) ; chr11:g.1754047C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1754047C>T , CM000673.2:g.1754047C>T	GRCh38
NC_000011.9:g.1775277C>T , CM000673.1:g.1775277C>T	GRCh37
NC_000011.8:g.1731853C>T	NCBI36
NG_008655.1:g.14946G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.919G>A MANE Select	ENSP00000236671.2:p.Glu307Lys
ENST00000367196.4:c.814G>A	ENSP00000356164.4:p.Glu272Lys
ENST00000427721.3:c.344G>A
ENST00000429746.2:c.814G>A	ENSP00000402586.2:p.Glu272Lys
ENST00000433655.6:c.*85G>A	ENSP00000404902.1:n.*85G>A
ENST00000438213.6:c.1036G>A	ENSP00000415036.2:p.Glu346Lys
ENST00000497544.3:n.535G>A
ENST00000636397.1:c.919G>A	ENSP00000489910.1:p.Glu307Lys
ENST00000636571.1:c.898G>A	ENSP00000490770.1:p.Glu300Lys
ENST00000636615.1:c.919G>A	ENSP00000490014.1:p.Glu307Lys
ENST00000636843.1:c.913G>A	ENSP00000490897.1:p.Glu305Lys
ENST00000637158.1:n.517G>A
ENST00000637381.2:n.3347G>A
ENST00000637387.1:c.919G>A	ENSP00000490598.1:p.Glu307Lys
ENST00000637815.2:c.901G>A	ENSP00000490344.1:p.Glu301Lys
ENST00000637915.1:c.919G>A	ENSP00000490471.1:p.Glu307Lys
ENST00000637937.1:n.227G>A
ENST00000678991.1:c.*780G>A	ENSP00000503019.1:n.*780G>A
ENST00000236671.6:c.919G>A	ENSP00000236671.2:p.Glu307Lys
ENST00000427721.2:c.319G>A	ENSP00000415840.2:p.Glu107Lys
ENST00000429746.1:c.250G>A	ENSP00000402586.1:p.Glu84Lys
ENST00000433655.5:c.*85G>A	ENSP00000404902.1:n.*85G>A
ENST00000438213.5:c.874G>A	ENSP00000415036.1:p.Glu292Lys
ENST00000497544.1:n.535G>A
NM_001909.4:c.919G>A	NP_001900.1:p.Glu307Lys
NM_001909.5:c.919G>A MANE Select	NP_001900.1:p.Glu307Lys