Canonical Allele Identifier: CA379092701

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1774869C>G (hg19) ; chr11:g.1753639C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753639C>G , CM000673.2:g.1753639C>G	GRCh38
NC_000011.9:g.1774869C>G , CM000673.1:g.1774869C>G	GRCh37
NC_000011.8:g.1731445C>G	NCBI36
NG_008655.1:g.15354G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1103G>C MANE Select	ENSP00000236671.2:p.Ser368Thr
ENST00000367196.4:c.998G>C	ENSP00000356164.4:p.Ser333Thr
ENST00000427721.3:c.528G>C
ENST00000429746.2:c.998G>C	ENSP00000402586.2:p.Ser333Thr
ENST00000433655.6:c.*269G>C	ENSP00000404902.1:n.*269G>C
ENST00000438213.6:c.1220G>C	ENSP00000415036.2:p.Ser407Thr
ENST00000636397.1:c.1071+164G>C	ENSP00000489910.1:n.1071+164G>C
ENST00000636571.1:c.1082G>C	ENSP00000490770.1:p.Ser361Thr
ENST00000636579.1:c.72+164G>C	ENSP00000490489.1:n.72+164G>C
ENST00000636615.1:c.1071+164G>C	ENSP00000490014.1:n.1071+164G>C
ENST00000636843.1:c.1097G>C	ENSP00000490897.1:p.Ser366Thr
ENST00000637158.1:n.701G>C
ENST00000637381.2:n.3531G>C
ENST00000637387.1:c.1082G>C	ENSP00000490598.1:p.Ser361Thr
ENST00000637815.2:c.1085G>C	ENSP00000490344.1:p.Ser362Thr
ENST00000637915.1:c.1094G>C	ENSP00000490471.1:p.Ser365Thr
ENST00000637937.1:n.411G>C
ENST00000678991.1:c.*964G>C	ENSP00000503019.1:n.*964G>C
ENST00000236671.6:c.1103G>C	ENSP00000236671.2:p.Ser368Thr
ENST00000427721.2:c.471+164G>C	ENSP00000415840.2:n.471+164G>C
ENST00000429746.1:c.434G>C	ENSP00000402586.1:p.Ser145Thr
ENST00000433655.5:c.*269G>C	ENSP00000404902.1:n.*269G>C
NM_001909.4:c.1103G>C	NP_001900.1:p.Ser368Thr
NM_001909.5:c.1103G>C MANE Select	NP_001900.1:p.Ser368Thr