Canonical Allele Identifier: CA379093137

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1775065A>C (hg19) ; chr11:g.1753835A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753835A>C , CM000673.2:g.1753835A>C	GRCh38
NC_000011.9:g.1775065A>C , CM000673.1:g.1775065A>C	GRCh37
NC_000011.8:g.1731641A>C	NCBI36
NG_008655.1:g.15158T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1039T>G MANE Select	ENSP00000236671.2:p.Tyr347Asp
ENST00000367196.4:c.934T>G	ENSP00000356164.4:p.Tyr312Asp
ENST00000427721.3:c.464T>G
ENST00000429746.2:c.934T>G	ENSP00000402586.2:p.Tyr312Asp
ENST00000433655.6:c.*205T>G	ENSP00000404902.1:n.*205T>G
ENST00000438213.6:c.1156T>G	ENSP00000415036.2:p.Tyr386Asp
ENST00000497544.3:n.747T>G
ENST00000636397.1:c.1039T>G	ENSP00000489910.1:p.Tyr347Asp
ENST00000636571.1:c.1018T>G	ENSP00000490770.1:p.Tyr340Asp
ENST00000636579.1:c.40T>G	ENSP00000490489.1:p.Tyr14Asp
ENST00000636615.1:c.1039T>G	ENSP00000490014.1:p.Tyr347Asp
ENST00000636843.1:c.1033T>G	ENSP00000490897.1:p.Tyr345Asp
ENST00000637158.1:n.637T>G
ENST00000637381.2:n.3467T>G
ENST00000637387.1:c.1018T>G	ENSP00000490598.1:p.Tyr340Asp
ENST00000637815.2:c.1021T>G	ENSP00000490344.1:p.Tyr341Asp
ENST00000637915.1:c.1039T>G	ENSP00000490471.1:p.Tyr347Asp
ENST00000637937.1:n.347T>G
ENST00000678991.1:c.*900T>G	ENSP00000503019.1:n.*900T>G
ENST00000236671.6:c.1039T>G	ENSP00000236671.2:p.Tyr347Asp
ENST00000427721.2:c.439T>G	ENSP00000415840.2:p.Tyr147Asp
ENST00000429746.1:c.370T>G	ENSP00000402586.1:p.Tyr124Asp
ENST00000433655.5:c.*205T>G	ENSP00000404902.1:n.*205T>G
ENST00000497544.1:n.747T>G
NM_001909.4:c.1039T>G	NP_001900.1:p.Tyr347Asp
NM_001909.5:c.1039T>G MANE Select	NP_001900.1:p.Tyr347Asp