Canonical Allele Identifier: CA379092755

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1774885T>G (hg19) ; chr11:g.1753655T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753655T>G , CM000673.2:g.1753655T>G	GRCh38
NC_000011.9:g.1774885T>G , CM000673.1:g.1774885T>G	GRCh37
NC_000011.8:g.1731461T>G	NCBI36
NG_008655.1:g.15338A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1087A>C MANE Select	ENSP00000236671.2:p.Lys363Gln
ENST00000367196.4:c.982A>C	ENSP00000356164.4:p.Lys328Gln
ENST00000427721.3:c.512A>C
ENST00000429746.2:c.982A>C	ENSP00000402586.2:p.Lys328Gln
ENST00000433655.6:c.*253A>C	ENSP00000404902.1:n.*253A>C
ENST00000438213.6:c.1204A>C	ENSP00000415036.2:p.Lys402Gln
ENST00000497544.3:n.795A>C
ENST00000636397.1:c.1071+148A>C	ENSP00000489910.1:n.1071+148A>C
ENST00000636571.1:c.1066A>C	ENSP00000490770.1:p.Lys356Gln
ENST00000636579.1:c.72+148A>C	ENSP00000490489.1:n.72+148A>C
ENST00000636615.1:c.1071+148A>C	ENSP00000490014.1:n.1071+148A>C
ENST00000636843.1:c.1081A>C	ENSP00000490897.1:p.Lys361Gln
ENST00000637158.1:n.685A>C
ENST00000637381.2:n.3515A>C
ENST00000637387.1:c.1066A>C	ENSP00000490598.1:p.Lys356Gln
ENST00000637815.2:c.1069A>C	ENSP00000490344.1:p.Lys357Gln
ENST00000637915.1:c.1078A>C	ENSP00000490471.1:p.Lys360Gln
ENST00000637937.1:n.395A>C
ENST00000678991.1:c.*948A>C	ENSP00000503019.1:n.*948A>C
ENST00000236671.6:c.1087A>C	ENSP00000236671.2:p.Lys363Gln
ENST00000427721.2:c.471+148A>C	ENSP00000415840.2:n.471+148A>C
ENST00000429746.1:c.418A>C	ENSP00000402586.1:p.Lys140Gln
ENST00000433655.5:c.*253A>C	ENSP00000404902.1:n.*253A>C
NM_001909.4:c.1087A>C	NP_001900.1:p.Lys363Gln
NM_001909.5:c.1087A>C MANE Select	NP_001900.1:p.Lys363Gln