Canonical Allele Identifier: CA379093803

Gene: CTSD

Linked Data

• ClinVar Variation Id: 2110822
• ClinVar RCV Id: RCV003020340
• MyVariant Identifiers: chr11:g.1775278A>C (hg19) ; chr11:g.1754048A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1754048A>C , CM000673.2:g.1754048A>C	GRCh38
NC_000011.9:g.1775278A>C , CM000673.1:g.1775278A>C	GRCh37
NC_000011.8:g.1731854A>C	NCBI36
NG_008655.1:g.14945T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.918T>G MANE Select	ENSP00000236671.2:p.Asp306Glu
ENST00000367196.4:c.813T>G	ENSP00000356164.4:p.Asp271Glu
ENST00000427721.3:c.343T>G
ENST00000429746.2:c.813T>G	ENSP00000402586.2:p.Asp271Glu
ENST00000433655.6:c.*84T>G	ENSP00000404902.1:n.*84T>G
ENST00000438213.6:c.1035T>G	ENSP00000415036.2:p.Asp345Glu
ENST00000497544.3:n.534T>G
ENST00000636397.1:c.918T>G	ENSP00000489910.1:p.Asp306Glu
ENST00000636571.1:c.897T>G	ENSP00000490770.1:p.Asp299Glu
ENST00000636615.1:c.918T>G	ENSP00000490014.1:p.Asp306Glu
ENST00000636843.1:c.912T>G	ENSP00000490897.1:p.Asp304Glu
ENST00000637158.1:n.516T>G
ENST00000637381.2:n.3346T>G
ENST00000637387.1:c.918T>G	ENSP00000490598.1:p.Asp306Glu
ENST00000637815.2:c.900T>G	ENSP00000490344.1:p.Asp300Glu
ENST00000637915.1:c.918T>G	ENSP00000490471.1:p.Asp306Glu
ENST00000637937.1:n.226T>G
ENST00000678991.1:c.*779T>G	ENSP00000503019.1:n.*779T>G
ENST00000236671.6:c.918T>G	ENSP00000236671.2:p.Asp306Glu
ENST00000427721.2:c.318T>G	ENSP00000415840.2:p.Asp106Glu
ENST00000429746.1:c.249T>G	ENSP00000402586.1:p.Asp83Glu
ENST00000433655.5:c.*84T>G	ENSP00000404902.1:n.*84T>G
ENST00000438213.5:c.873T>G	ENSP00000415036.1:p.Asp291Glu
ENST00000497544.1:n.534T>G
NM_001909.4:c.918T>G	NP_001900.1:p.Asp306Glu
NM_001909.5:c.918T>G MANE Select	NP_001900.1:p.Asp306Glu