Canonical Allele Identifier: CA379092468

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1774806A>T (hg19) ; chr11:g.1753576A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753576A>T , CM000673.2:g.1753576A>T	GRCh38
NC_000011.9:g.1774806A>T , CM000673.1:g.1774806A>T	GRCh37
NC_000011.8:g.1731382A>T	NCBI36
NG_008655.1:g.15417T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1166T>A MANE Select	ENSP00000236671.2:p.Phe389Tyr
ENST00000367196.4:c.1061T>A	ENSP00000356164.4:p.Phe354Tyr
ENST00000427721.3:c.591T>A
ENST00000429746.2:c.1061T>A	ENSP00000402586.2:p.Phe354Tyr
ENST00000433655.6:c.*332T>A	ENSP00000404902.1:n.*332T>A
ENST00000438213.6:c.1283T>A	ENSP00000415036.2:p.Phe428Tyr
ENST00000636397.1:c.1071+227T>A	ENSP00000489910.1:n.1071+227T>A
ENST00000636571.1:c.1145T>A	ENSP00000490770.1:p.Phe382Tyr
ENST00000636579.1:c.72+227T>A	ENSP00000490489.1:n.72+227T>A
ENST00000636615.1:c.1071+227T>A	ENSP00000490014.1:n.1071+227T>A
ENST00000636843.1:c.1160T>A	ENSP00000490897.1:p.Phe387Tyr
ENST00000637158.1:n.764T>A
ENST00000637381.2:n.3594T>A
ENST00000637387.1:c.1145T>A	ENSP00000490598.1:p.Phe382Tyr
ENST00000637815.2:c.1148T>A	ENSP00000490344.1:p.Phe383Tyr
ENST00000637915.1:c.1157T>A	ENSP00000490471.1:p.Phe386Tyr
ENST00000637937.1:n.474T>A
ENST00000678991.1:c.*1027T>A	ENSP00000503019.1:n.*1027T>A
ENST00000236671.6:c.1166T>A	ENSP00000236671.2:p.Phe389Tyr
ENST00000427721.2:c.471+227T>A	ENSP00000415840.2:n.471+227T>A
ENST00000429746.1:c.497T>A	ENSP00000402586.1:p.Phe166Tyr
ENST00000433655.5:c.*332T>A	ENSP00000404902.1:n.*332T>A
NM_001909.4:c.1166T>A	NP_001900.1:p.Phe389Tyr
NM_001909.5:c.1166T>A MANE Select	NP_001900.1:p.Phe389Tyr