Canonical Allele Identifier: CA379092877

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1775050C>T (hg19) ; chr11:g.1753820C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753820C>T , CM000673.2:g.1753820C>T	GRCh38
NC_000011.9:g.1775050C>T , CM000673.1:g.1775050C>T	GRCh37
NC_000011.8:g.1731626C>T	NCBI36
NG_008655.1:g.15173G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1054G>A MANE Select	ENSP00000236671.2:p.Glu352Lys
ENST00000367196.4:c.949G>A	ENSP00000356164.4:p.Glu317Lys
ENST00000427721.3:c.479G>A
ENST00000429746.2:c.949G>A	ENSP00000402586.2:p.Glu317Lys
ENST00000433655.6:c.*220G>A	ENSP00000404902.1:n.*220G>A
ENST00000438213.6:c.1171G>A	ENSP00000415036.2:p.Glu391Lys
ENST00000497544.3:n.762G>A
ENST00000636397.1:c.1054G>A	ENSP00000489910.1:p.Glu352Lys
ENST00000636571.1:c.1033G>A	ENSP00000490770.1:p.Glu345Lys
ENST00000636579.1:c.55G>A	ENSP00000490489.1:p.Glu19Lys
ENST00000636615.1:c.1054G>A	ENSP00000490014.1:p.Glu352Lys
ENST00000636843.1:c.1048G>A	ENSP00000490897.1:p.Glu350Lys
ENST00000637158.1:n.652G>A
ENST00000637381.2:n.3482G>A
ENST00000637387.1:c.1033G>A	ENSP00000490598.1:p.Glu345Lys
ENST00000637815.2:c.1036G>A	ENSP00000490344.1:p.Glu346Lys
ENST00000637915.1:c.1054G>A	ENSP00000490471.1:p.Glu352Lys
ENST00000637937.1:n.362G>A
ENST00000678991.1:c.*915G>A	ENSP00000503019.1:n.*915G>A
ENST00000236671.6:c.1054G>A	ENSP00000236671.2:p.Glu352Lys
ENST00000427721.2:c.454G>A	ENSP00000415840.2:p.Glu152Lys
ENST00000429746.1:c.385G>A	ENSP00000402586.1:p.Glu129Lys
ENST00000433655.5:c.*220G>A	ENSP00000404902.1:n.*220G>A
ENST00000497544.1:n.762G>A
NM_001909.4:c.1054G>A	NP_001900.1:p.Glu352Lys
NM_001909.5:c.1054G>A MANE Select	NP_001900.1:p.Glu352Lys