Canonical Allele Identifier: CA379093344

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1775114C>G (hg19) ; chr11:g.1753884C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753884C>G , CM000673.2:g.1753884C>G	GRCh38
NC_000011.9:g.1775114C>G , CM000673.1:g.1775114C>G	GRCh37
NC_000011.8:g.1731690C>G	NCBI36
NG_008655.1:g.15109G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.990G>C MANE Select	ENSP00000236671.2:p.Glu330Asp
ENST00000367196.4:c.885G>C	ENSP00000356164.4:p.Glu295Asp
ENST00000427721.3:c.415G>C
ENST00000429746.2:c.885G>C	ENSP00000402586.2:p.Glu295Asp
ENST00000433655.6:c.*156G>C	ENSP00000404902.1:n.*156G>C
ENST00000438213.6:c.1107G>C	ENSP00000415036.2:p.Glu369Asp
ENST00000497544.3:n.698G>C
ENST00000636397.1:c.990G>C	ENSP00000489910.1:p.Glu330Asp
ENST00000636571.1:c.969G>C	ENSP00000490770.1:p.Glu323Asp
ENST00000636615.1:c.990G>C	ENSP00000490014.1:p.Glu330Asp
ENST00000636843.1:c.984G>C	ENSP00000490897.1:p.Glu328Asp
ENST00000637158.1:n.588G>C
ENST00000637381.2:n.3418G>C
ENST00000637387.1:c.973-4G>C	ENSP00000490598.1:n.973-4G>C
ENST00000637815.2:c.972G>C	ENSP00000490344.1:p.Glu324Asp
ENST00000637915.1:c.990G>C	ENSP00000490471.1:p.Glu330Asp
ENST00000637937.1:n.298G>C
ENST00000678991.1:c.*851G>C	ENSP00000503019.1:n.*851G>C
ENST00000236671.6:c.990G>C	ENSP00000236671.2:p.Glu330Asp
ENST00000427721.2:c.390G>C	ENSP00000415840.2:p.Glu130Asp
ENST00000429746.1:c.321G>C	ENSP00000402586.1:p.Glu107Asp
ENST00000433655.5:c.*156G>C	ENSP00000404902.1:n.*156G>C
ENST00000497544.1:n.698G>C
NM_001909.4:c.990G>C	NP_001900.1:p.Glu330Asp
NM_001909.5:c.990G>C MANE Select	NP_001900.1:p.Glu330Asp