Canonical Allele Identifier: CA379095314

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1776203A>C (hg19) ; chr11:g.1754973A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1754973A>C , CM000673.2:g.1754973A>C	GRCh38
NC_000011.9:g.1776203A>C , CM000673.1:g.1776203A>C	GRCh37
NC_000011.8:g.1732779A>C	NCBI36
NG_008655.1:g.14020T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.760T>G MANE Select	ENSP00000236671.2:p.Tyr254Asp
ENST00000367196.4:c.655T>G	ENSP00000356164.4:p.Tyr219Asp
ENST00000427721.3:c.185T>G
ENST00000429746.2:c.655T>G	ENSP00000402586.2:p.Tyr219Asp
ENST00000433655.6:c.760T>G	ENSP00000404902.1:p.Tyr254Asp
ENST00000438213.6:c.760T>G	ENSP00000415036.2:p.Tyr254Asp
ENST00000497544.3:n.376T>G
ENST00000636397.1:c.760T>G	ENSP00000489910.1:p.Tyr254Asp
ENST00000636571.1:c.739T>G	ENSP00000490770.1:p.Tyr247Asp
ENST00000636615.1:c.760T>G	ENSP00000490014.1:p.Tyr254Asp
ENST00000636843.1:c.754T>G	ENSP00000490897.1:p.Tyr252Asp
ENST00000637158.1:n.358T>G
ENST00000637381.2:n.3188T>G
ENST00000637387.1:c.760T>G	ENSP00000490598.1:p.Tyr254Asp
ENST00000637815.2:c.760T>G	ENSP00000490344.1:p.Tyr254Asp
ENST00000637915.1:c.760T>G	ENSP00000490471.1:p.Tyr254Asp
ENST00000637937.1:n.68T>G
ENST00000678991.1:c.*621T>G	ENSP00000503019.1:n.*621T>G
ENST00000236671.6:c.760T>G	ENSP00000236671.2:p.Tyr254Asp
ENST00000427721.2:c.160T>G	ENSP00000415840.2:p.Tyr54Asp
ENST00000433655.5:c.760T>G	ENSP00000404902.1:p.Tyr254Asp
ENST00000438213.5:c.715T>G	ENSP00000415036.1:p.Tyr239Asp
ENST00000497544.1:n.376T>G
NM_001909.4:c.760T>G	NP_001900.1:p.Tyr254Asp
NM_001909.5:c.760T>G MANE Select	NP_001900.1:p.Tyr254Asp