Canonical Allele Identifier: CA379092876

Gene: CTSD

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1054G>C MANE Select	ENSP00000236671.2:p.Glu352Gln
ENST00000367196.4:c.949G>C	ENSP00000356164.4:p.Glu317Gln
ENST00000427721.3:c.479G>C
ENST00000429746.2:c.949G>C	ENSP00000402586.2:p.Glu317Gln
ENST00000433655.6:c.*220G>C	ENSP00000404902.1:n.*220G>C
ENST00000438213.6:c.1171G>C	ENSP00000415036.2:p.Glu391Gln
ENST00000497544.3:n.762G>C
ENST00000636397.1:c.1054G>C	ENSP00000489910.1:p.Glu352Gln
ENST00000636571.1:c.1033G>C	ENSP00000490770.1:p.Glu345Gln
ENST00000636579.1:c.55G>C	ENSP00000490489.1:p.Glu19Gln
ENST00000636615.1:c.1054G>C	ENSP00000490014.1:p.Glu352Gln
ENST00000636843.1:c.1048G>C	ENSP00000490897.1:p.Glu350Gln
ENST00000637158.1:n.652G>C
ENST00000637381.2:n.3482G>C
ENST00000637387.1:c.1033G>C	ENSP00000490598.1:p.Glu345Gln
ENST00000637815.2:c.1036G>C	ENSP00000490344.1:p.Glu346Gln
ENST00000637915.1:c.1054G>C	ENSP00000490471.1:p.Glu352Gln
ENST00000637937.1:n.362G>C
ENST00000678991.1:c.*915G>C	ENSP00000503019.1:n.*915G>C
ENST00000236671.6:c.1054G>C	ENSP00000236671.2:p.Glu352Gln
ENST00000427721.2:c.454G>C	ENSP00000415840.2:p.Glu152Gln
ENST00000429746.1:c.385G>C	ENSP00000402586.1:p.Glu129Gln
ENST00000433655.5:c.*220G>C	ENSP00000404902.1:n.*220G>C
ENST00000497544.1:n.762G>C
NM_001909.4:c.1054G>C	NP_001900.1:p.Glu352Gln
NM_001909.5:c.1054G>C MANE Select	NP_001900.1:p.Glu352Gln