Canonical Allele Identifier: CA379093247

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1775091A>G (hg19) ; chr11:g.1753861A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753861A>G , CM000673.2:g.1753861A>G	GRCh38
NC_000011.9:g.1775091A>G , CM000673.1:g.1775091A>G	GRCh37
NC_000011.8:g.1731667A>G	NCBI36
NG_008655.1:g.15132T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1013T>C MANE Select	ENSP00000236671.2:p.Ile338Thr
ENST00000367196.4:c.908T>C	ENSP00000356164.4:p.Ile303Thr
ENST00000427721.3:c.438T>C
ENST00000429746.2:c.908T>C	ENSP00000402586.2:p.Ile303Thr
ENST00000433655.6:c.*179T>C	ENSP00000404902.1:n.*179T>C
ENST00000438213.6:c.1130T>C	ENSP00000415036.2:p.Ile377Thr
ENST00000497544.3:n.721T>C
ENST00000636397.1:c.1013T>C	ENSP00000489910.1:p.Ile338Thr
ENST00000636571.1:c.992T>C	ENSP00000490770.1:p.Ile331Thr
ENST00000636579.1:c.14T>C	ENSP00000490489.1:p.Ile5Thr
ENST00000636615.1:c.1013T>C	ENSP00000490014.1:p.Ile338Thr
ENST00000636843.1:c.1007T>C	ENSP00000490897.1:p.Ile336Thr
ENST00000637158.1:n.611T>C
ENST00000637381.2:n.3441T>C
ENST00000637387.1:c.992T>C	ENSP00000490598.1:p.Ile331Thr
ENST00000637815.2:c.995T>C	ENSP00000490344.1:p.Ile332Thr
ENST00000637915.1:c.1013T>C	ENSP00000490471.1:p.Ile338Thr
ENST00000637937.1:n.321T>C
ENST00000678991.1:c.*874T>C	ENSP00000503019.1:n.*874T>C
ENST00000236671.6:c.1013T>C	ENSP00000236671.2:p.Ile338Thr
ENST00000427721.2:c.413T>C	ENSP00000415840.2:p.Ile138Thr
ENST00000429746.1:c.344T>C	ENSP00000402586.1:p.Ile115Thr
ENST00000433655.5:c.*179T>C	ENSP00000404902.1:n.*179T>C
ENST00000497544.1:n.721T>C
NM_001909.4:c.1013T>C	NP_001900.1:p.Ile338Thr
NM_001909.5:c.1013T>C MANE Select	NP_001900.1:p.Ile338Thr