Canonical Allele Identifier: CA379093388

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1775124A>C (hg19) ; chr11:g.1753894A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753894A>C , CM000673.2:g.1753894A>C	GRCh38
NC_000011.9:g.1775124A>C , CM000673.1:g.1775124A>C	GRCh37
NC_000011.8:g.1731700A>C	NCBI36
NG_008655.1:g.15099T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.980T>G MANE Select	ENSP00000236671.2:p.Ile327Ser
ENST00000367196.4:c.875T>G	ENSP00000356164.4:p.Ile292Ser
ENST00000427721.3:c.405T>G
ENST00000429746.2:c.875T>G	ENSP00000402586.2:p.Ile292Ser
ENST00000433655.6:c.*146T>G	ENSP00000404902.1:n.*146T>G
ENST00000438213.6:c.1097T>G	ENSP00000415036.2:p.Ile366Ser
ENST00000497544.3:n.688T>G
ENST00000636397.1:c.980T>G	ENSP00000489910.1:p.Ile327Ser
ENST00000636571.1:c.959T>G	ENSP00000490770.1:p.Ile320Ser
ENST00000636615.1:c.980T>G	ENSP00000490014.1:p.Ile327Ser
ENST00000636843.1:c.974T>G	ENSP00000490897.1:p.Ile325Ser
ENST00000637158.1:n.578T>G
ENST00000637381.2:n.3408T>G
ENST00000637387.1:c.973-14T>G	ENSP00000490598.1:n.973-14T>G
ENST00000637815.2:c.962T>G	ENSP00000490344.1:p.Ile321Ser
ENST00000637915.1:c.980T>G	ENSP00000490471.1:p.Ile327Ser
ENST00000637937.1:n.288T>G
ENST00000678991.1:c.*841T>G	ENSP00000503019.1:n.*841T>G
ENST00000236671.6:c.980T>G	ENSP00000236671.2:p.Ile327Ser
ENST00000427721.2:c.380T>G	ENSP00000415840.2:p.Ile127Ser
ENST00000429746.1:c.311T>G	ENSP00000402586.1:p.Ile104Ser
ENST00000433655.5:c.*146T>G	ENSP00000404902.1:n.*146T>G
ENST00000497544.1:n.688T>G
NM_001909.4:c.980T>G	NP_001900.1:p.Ile327Ser
NM_001909.5:c.980T>G MANE Select	NP_001900.1:p.Ile327Ser