Canonical Allele Identifier: CA379093795

Gene: CTSD

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.919G>C MANE Select	ENSP00000236671.2:p.Glu307Gln
ENST00000367196.4:c.814G>C	ENSP00000356164.4:p.Glu272Gln
ENST00000427721.3:c.344G>C
ENST00000429746.2:c.814G>C	ENSP00000402586.2:p.Glu272Gln
ENST00000433655.6:c.*85G>C	ENSP00000404902.1:n.*85G>C
ENST00000438213.6:c.1036G>C	ENSP00000415036.2:p.Glu346Gln
ENST00000497544.3:n.535G>C
ENST00000636397.1:c.919G>C	ENSP00000489910.1:p.Glu307Gln
ENST00000636571.1:c.898G>C	ENSP00000490770.1:p.Glu300Gln
ENST00000636615.1:c.919G>C	ENSP00000490014.1:p.Glu307Gln
ENST00000636843.1:c.913G>C	ENSP00000490897.1:p.Glu305Gln
ENST00000637158.1:n.517G>C
ENST00000637381.2:n.3347G>C
ENST00000637387.1:c.919G>C	ENSP00000490598.1:p.Glu307Gln
ENST00000637815.2:c.901G>C	ENSP00000490344.1:p.Glu301Gln
ENST00000637915.1:c.919G>C	ENSP00000490471.1:p.Glu307Gln
ENST00000637937.1:n.227G>C
ENST00000678991.1:c.*780G>C	ENSP00000503019.1:n.*780G>C
ENST00000236671.6:c.919G>C	ENSP00000236671.2:p.Glu307Gln
ENST00000427721.2:c.319G>C	ENSP00000415840.2:p.Glu107Gln
ENST00000429746.1:c.250G>C	ENSP00000402586.1:p.Glu84Gln
ENST00000433655.5:c.*85G>C	ENSP00000404902.1:n.*85G>C
ENST00000438213.5:c.874G>C	ENSP00000415036.1:p.Glu292Gln
ENST00000497544.1:n.535G>C
NM_001909.4:c.919G>C	NP_001900.1:p.Glu307Gln
NM_001909.5:c.919G>C MANE Select	NP_001900.1:p.Glu307Gln