Canonical Allele Identifier: CA379092439

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1774798G>C (hg19) ; chr11:g.1753568G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753568G>C , CM000673.2:g.1753568G>C	GRCh38
NC_000011.9:g.1774798G>C , CM000673.1:g.1774798G>C	GRCh37
NC_000011.8:g.1731374G>C	NCBI36
NG_008655.1:g.15425C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1174C>G MANE Select	ENSP00000236671.2:p.Arg392Gly
ENST00000367196.4:c.1069C>G	ENSP00000356164.4:p.Arg357Gly
ENST00000427721.3:c.599C>G
ENST00000429746.2:c.1069C>G	ENSP00000402586.2:p.Arg357Gly
ENST00000433655.6:c.*340C>G	ENSP00000404902.1:n.*340C>G
ENST00000438213.6:c.1291C>G	ENSP00000415036.2:p.Arg431Gly
ENST00000636397.1:c.1071+235C>G	ENSP00000489910.1:n.1071+235C>G
ENST00000636571.1:c.1153C>G	ENSP00000490770.1:p.Arg385Gly
ENST00000636579.1:c.72+235C>G	ENSP00000490489.1:n.72+235C>G
ENST00000636615.1:c.1071+235C>G	ENSP00000490014.1:n.1071+235C>G
ENST00000636843.1:c.1168C>G	ENSP00000490897.1:p.Arg390Gly
ENST00000637158.1:n.772C>G
ENST00000637381.2:n.3602C>G
ENST00000637387.1:c.1153C>G	ENSP00000490598.1:p.Arg385Gly
ENST00000637815.2:c.1156C>G	ENSP00000490344.1:p.Arg386Gly
ENST00000637915.1:c.1165C>G	ENSP00000490471.1:p.Arg389Gly
ENST00000637937.1:n.482C>G
ENST00000678991.1:c.*1035C>G	ENSP00000503019.1:n.*1035C>G
ENST00000236671.6:c.1174C>G	ENSP00000236671.2:p.Arg392Gly
ENST00000427721.2:c.471+235C>G	ENSP00000415840.2:n.471+235C>G
ENST00000429746.1:c.505C>G	ENSP00000402586.1:p.Arg169Gly
ENST00000433655.5:c.*340C>G	ENSP00000404902.1:n.*340C>G
NM_001909.4:c.1174C>G	NP_001900.1:p.Arg392Gly
NM_001909.5:c.1174C>G MANE Select	NP_001900.1:p.Arg392Gly