Canonical Allele Identifier: CA379093350

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1775115T>G (hg19) ; chr11:g.1753885T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753885T>G , CM000673.2:g.1753885T>G	GRCh38
NC_000011.9:g.1775115T>G , CM000673.1:g.1775115T>G	GRCh37
NC_000011.8:g.1731691T>G	NCBI36
NG_008655.1:g.15108A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.989A>C MANE Select	ENSP00000236671.2:p.Glu330Ala
ENST00000367196.4:c.884A>C	ENSP00000356164.4:p.Glu295Ala
ENST00000427721.3:c.414A>C
ENST00000429746.2:c.884A>C	ENSP00000402586.2:p.Glu295Ala
ENST00000433655.6:c.*155A>C	ENSP00000404902.1:n.*155A>C
ENST00000438213.6:c.1106A>C	ENSP00000415036.2:p.Glu369Ala
ENST00000497544.3:n.697A>C
ENST00000636397.1:c.989A>C	ENSP00000489910.1:p.Glu330Ala
ENST00000636571.1:c.968A>C	ENSP00000490770.1:p.Glu323Ala
ENST00000636615.1:c.989A>C	ENSP00000490014.1:p.Glu330Ala
ENST00000636843.1:c.983A>C	ENSP00000490897.1:p.Glu328Ala
ENST00000637158.1:n.587A>C
ENST00000637381.2:n.3417A>C
ENST00000637387.1:c.973-5A>C	ENSP00000490598.1:n.973-5A>C
ENST00000637815.2:c.971A>C	ENSP00000490344.1:p.Glu324Ala
ENST00000637915.1:c.989A>C	ENSP00000490471.1:p.Glu330Ala
ENST00000637937.1:n.297A>C
ENST00000678991.1:c.*850A>C	ENSP00000503019.1:n.*850A>C
ENST00000236671.6:c.989A>C	ENSP00000236671.2:p.Glu330Ala
ENST00000427721.2:c.389A>C	ENSP00000415840.2:p.Glu130Ala
ENST00000429746.1:c.320A>C	ENSP00000402586.1:p.Glu107Ala
ENST00000433655.5:c.*155A>C	ENSP00000404902.1:n.*155A>C
ENST00000497544.1:n.697A>C
NM_001909.4:c.989A>C	NP_001900.1:p.Glu330Ala
NM_001909.5:c.989A>C MANE Select	NP_001900.1:p.Glu330Ala