Canonical Allele Identifier: CA379097956

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1780749A>G (hg19) ; chr11:g.1759519A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1759519A>G , CM000673.2:g.1759519A>G	GRCh38
NC_000011.9:g.1780749A>G , CM000673.1:g.1780749A>G	GRCh37
NC_000011.8:g.1737325A>G	NCBI36
NG_008655.1:g.9474T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.349T>C MANE Select	ENSP00000236671.2:p.Cys117Arg
ENST00000367196.4:c.244T>C	ENSP00000356164.4:p.Cys82Arg
ENST00000429746.2:c.244T>C	ENSP00000402586.2:p.Cys82Arg
ENST00000433655.6:c.349T>C	ENSP00000404902.1:p.Cys117Arg
ENST00000438213.6:c.349T>C	ENSP00000415036.2:p.Cys117Arg
ENST00000636397.1:c.349T>C	ENSP00000489910.1:p.Cys117Arg
ENST00000636571.1:c.328T>C	ENSP00000490770.1:p.Cys110Arg
ENST00000636615.1:c.349T>C	ENSP00000490014.1:p.Cys117Arg
ENST00000636843.1:c.343T>C	ENSP00000490897.1:p.Cys115Arg
ENST00000637381.2:n.2777T>C
ENST00000637387.1:c.349T>C	ENSP00000490598.1:p.Cys117Arg
ENST00000637815.2:c.349T>C	ENSP00000490344.1:p.Cys117Arg
ENST00000637915.1:c.349T>C	ENSP00000490471.1:p.Cys117Arg
ENST00000677300.1:n.744T>C
ENST00000678991.1:c.*210T>C	ENSP00000503019.1:n.*210T>C
ENST00000236671.6:c.349T>C	ENSP00000236671.2:p.Cys117Arg
ENST00000367196.3:c.244T>C	ENSP00000356164.3:p.Cys82Arg
ENST00000433655.5:c.349T>C	ENSP00000404902.1:p.Cys117Arg
ENST00000438213.5:c.304T>C	ENSP00000415036.1:p.Cys102Arg
NM_001909.4:c.349T>C	NP_001900.1:p.Cys117Arg
NM_001909.5:c.349T>C MANE Select	NP_001900.1:p.Cys117Arg