Canonical Allele Identifier: CA379092395

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1774779T>G (hg19) ; chr11:g.1753549T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753549T>G , CM000673.2:g.1753549T>G	GRCh38
NC_000011.9:g.1774779T>G , CM000673.1:g.1774779T>G	GRCh37
NC_000011.8:g.1731355T>G	NCBI36
NG_008655.1:g.15444A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.1193A>C MANE Select	ENSP00000236671.2:p.Asp398Ala
ENST00000367196.4:c.1088A>C	ENSP00000356164.4:p.Asp363Ala
ENST00000427721.3:c.618A>C
ENST00000429746.2:c.1088A>C	ENSP00000402586.2:p.Asp363Ala
ENST00000433655.6:c.*359A>C	ENSP00000404902.1:n.*359A>C
ENST00000438213.6:c.1310A>C	ENSP00000415036.2:p.Asp437Ala
ENST00000636397.1:c.1071+254A>C	ENSP00000489910.1:n.1071+254A>C
ENST00000636571.1:c.1172A>C	ENSP00000490770.1:p.Asp391Ala
ENST00000636579.1:c.72+254A>C	ENSP00000490489.1:n.72+254A>C
ENST00000636615.1:c.1071+254A>C	ENSP00000490014.1:n.1071+254A>C
ENST00000636843.1:c.1187A>C	ENSP00000490897.1:p.Asp396Ala
ENST00000637158.1:n.791A>C
ENST00000637381.2:n.3621A>C
ENST00000637387.1:c.1172A>C	ENSP00000490598.1:p.Asp391Ala
ENST00000637815.2:c.1175A>C	ENSP00000490344.1:p.Asp392Ala
ENST00000637915.1:c.1184A>C	ENSP00000490471.1:p.Asp395Ala
ENST00000637937.1:n.501A>C
ENST00000678991.1:c.*1054A>C	ENSP00000503019.1:n.*1054A>C
ENST00000236671.6:c.1193A>C	ENSP00000236671.2:p.Asp398Ala
ENST00000427721.2:c.471+254A>C	ENSP00000415840.2:n.471+254A>C
ENST00000429746.1:c.524A>C	ENSP00000402586.1:p.Asp175Ala
ENST00000433655.5:c.*359A>C	ENSP00000404902.1:n.*359A>C
NM_001909.4:c.1193A>C	NP_001900.1:p.Asp398Ala
NM_001909.5:c.1193A>C MANE Select	NP_001900.1:p.Asp398Ala