Canonical Allele Identifier: CA379092902

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1775062T>C (hg19) ; chr11:g.1753832T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753832T>C , CM000673.2:g.1753832T>C	GRCh38
NC_000011.9:g.1775062T>C , CM000673.1:g.1775062T>C	GRCh37
NC_000011.8:g.1731638T>C	NCBI36
NG_008655.1:g.15161A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1042A>G MANE Select	ENSP00000236671.2:p.Lys348Glu
ENST00000367196.4:c.937A>G	ENSP00000356164.4:p.Lys313Glu
ENST00000427721.3:c.467A>G
ENST00000429746.2:c.937A>G	ENSP00000402586.2:p.Lys313Glu
ENST00000433655.6:c.*208A>G	ENSP00000404902.1:n.*208A>G
ENST00000438213.6:c.1159A>G	ENSP00000415036.2:p.Lys387Glu
ENST00000497544.3:n.750A>G
ENST00000636397.1:c.1042A>G	ENSP00000489910.1:p.Lys348Glu
ENST00000636571.1:c.1021A>G	ENSP00000490770.1:p.Lys341Glu
ENST00000636579.1:c.43A>G	ENSP00000490489.1:p.Lys15Glu
ENST00000636615.1:c.1042A>G	ENSP00000490014.1:p.Lys348Glu
ENST00000636843.1:c.1036A>G	ENSP00000490897.1:p.Lys346Glu
ENST00000637158.1:n.640A>G
ENST00000637381.2:n.3470A>G
ENST00000637387.1:c.1021A>G	ENSP00000490598.1:p.Lys341Glu
ENST00000637815.2:c.1024A>G	ENSP00000490344.1:p.Lys342Glu
ENST00000637915.1:c.1042A>G	ENSP00000490471.1:p.Lys348Glu
ENST00000637937.1:n.350A>G
ENST00000678991.1:c.*903A>G	ENSP00000503019.1:n.*903A>G
ENST00000236671.6:c.1042A>G	ENSP00000236671.2:p.Lys348Glu
ENST00000427721.2:c.442A>G	ENSP00000415840.2:p.Lys148Glu
ENST00000429746.1:c.373A>G	ENSP00000402586.1:p.Lys125Glu
ENST00000433655.5:c.*208A>G	ENSP00000404902.1:n.*208A>G
ENST00000497544.1:n.750A>G
NM_001909.4:c.1042A>G	NP_001900.1:p.Lys348Glu
NM_001909.5:c.1042A>G MANE Select	NP_001900.1:p.Lys348Glu