Canonical Allele Identifier: CA379092730

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1774876A>G (hg19) ; chr11:g.1753646A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753646A>G , CM000673.2:g.1753646A>G	GRCh38
NC_000011.9:g.1774876A>G , CM000673.1:g.1774876A>G	GRCh37
NC_000011.8:g.1731452A>G	NCBI36
NG_008655.1:g.15347T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1096T>C MANE Select	ENSP00000236671.2:p.Cys366Arg
ENST00000367196.4:c.991T>C	ENSP00000356164.4:p.Cys331Arg
ENST00000427721.3:c.521T>C
ENST00000429746.2:c.991T>C	ENSP00000402586.2:p.Cys331Arg
ENST00000433655.6:c.*262T>C	ENSP00000404902.1:n.*262T>C
ENST00000438213.6:c.1213T>C	ENSP00000415036.2:p.Cys405Arg
ENST00000636397.1:c.1071+157T>C	ENSP00000489910.1:n.1071+157T>C
ENST00000636571.1:c.1075T>C	ENSP00000490770.1:p.Cys359Arg
ENST00000636579.1:c.72+157T>C	ENSP00000490489.1:n.72+157T>C
ENST00000636615.1:c.1071+157T>C	ENSP00000490014.1:n.1071+157T>C
ENST00000636843.1:c.1090T>C	ENSP00000490897.1:p.Cys364Arg
ENST00000637158.1:n.694T>C
ENST00000637381.2:n.3524T>C
ENST00000637387.1:c.1075T>C	ENSP00000490598.1:p.Cys359Arg
ENST00000637815.2:c.1078T>C	ENSP00000490344.1:p.Cys360Arg
ENST00000637915.1:c.1087T>C	ENSP00000490471.1:p.Cys363Arg
ENST00000637937.1:n.404T>C
ENST00000678991.1:c.*957T>C	ENSP00000503019.1:n.*957T>C
ENST00000236671.6:c.1096T>C	ENSP00000236671.2:p.Cys366Arg
ENST00000427721.2:c.471+157T>C	ENSP00000415840.2:n.471+157T>C
ENST00000429746.1:c.427T>C	ENSP00000402586.1:p.Cys143Arg
ENST00000433655.5:c.*262T>C	ENSP00000404902.1:n.*262T>C
NM_001909.4:c.1096T>C	NP_001900.1:p.Cys366Arg
NM_001909.5:c.1096T>C MANE Select	NP_001900.1:p.Cys366Arg