Canonical Allele Identifier: CA379092317

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1774741G>C (hg19) ; chr11:g.1753511G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753511G>C , CM000673.2:g.1753511G>C	GRCh38
NC_000011.9:g.1774741G>C , CM000673.1:g.1774741G>C	GRCh37
NC_000011.8:g.1731317G>C	NCBI36
NG_008655.1:g.15482C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.1231C>G MANE Select	ENSP00000236671.2:p.Arg411Gly
ENST00000367196.4:c.1126C>G	ENSP00000356164.4:p.Arg376Gly
ENST00000427721.3:c.634+22C>G
ENST00000429746.2:c.1126C>G	ENSP00000402586.2:p.Arg376Gly
ENST00000433655.6:c.*397C>G	ENSP00000404902.1:n.*397C>G
ENST00000438213.6:c.1348C>G	ENSP00000415036.2:p.Arg450Gly
ENST00000636397.1:c.1071+292C>G	ENSP00000489910.1:n.1071+292C>G
ENST00000636571.1:c.1210C>G	ENSP00000490770.1:p.Arg404Gly
ENST00000636579.1:c.72+292C>G	ENSP00000490489.1:n.72+292C>G
ENST00000636615.1:c.1071+292C>G	ENSP00000490014.1:n.1071+292C>G
ENST00000636843.1:c.1225C>G	ENSP00000490897.1:p.Arg409Gly
ENST00000637158.1:n.829C>G
ENST00000637381.2:n.3659C>G
ENST00000637387.1:c.1210C>G	ENSP00000490598.1:p.Arg404Gly
ENST00000637815.2:c.1213C>G	ENSP00000490344.1:p.Arg405Gly
ENST00000637915.1:c.1222C>G	ENSP00000490471.1:p.Arg408Gly
ENST00000637937.1:n.539C>G
ENST00000678991.1:c.*1092C>G	ENSP00000503019.1:n.*1092C>G
ENST00000236671.6:c.1231C>G	ENSP00000236671.2:p.Arg411Gly
ENST00000427721.2:c.471+292C>G	ENSP00000415840.2:n.471+292C>G
ENST00000429746.1:c.562C>G	ENSP00000402586.1:p.Arg188Gly
ENST00000433655.5:c.*397C>G	ENSP00000404902.1:n.*397C>G
NM_001909.4:c.1231C>G	NP_001900.1:p.Arg411Gly
NM_001909.5:c.1231C>G MANE Select	NP_001900.1:p.Arg411Gly