Canonical Allele Identifier: CA379092681
Gene: CTSD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1753634A>T , CM000673.2:g.1753634A>T GRCh38
NC_000011.9:g.1774864A>T , CM000673.1:g.1774864A>T GRCh37
NC_000011.8:g.1731440A>T NCBI36
NG_008655.1:g.15359T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000236671.7:c.1108T>A MANE Select ENSP00000236671.2:p.Phe370Ile
ENST00000367196.4:c.1003T>A ENSP00000356164.4:p.Phe335Ile
ENST00000427721.3:c.533T>A
ENST00000429746.2:c.1003T>A ENSP00000402586.2:p.Phe335Ile
ENST00000433655.6:c.*274T>A ENSP00000404902.1:n.*274T>A
ENST00000438213.6:c.1225T>A ENSP00000415036.2:p.Phe409Ile
ENST00000636397.1:c.1071+169T>A ENSP00000489910.1:n.1071+169T>A
ENST00000636571.1:c.1087T>A ENSP00000490770.1:p.Phe363Ile
ENST00000636579.1:c.72+169T>A ENSP00000490489.1:n.72+169T>A
ENST00000636615.1:c.1071+169T>A ENSP00000490014.1:n.1071+169T>A
ENST00000636843.1:c.1102T>A ENSP00000490897.1:p.Phe368Ile
ENST00000637158.1:n.706T>A
ENST00000637381.2:n.3536T>A
ENST00000637387.1:c.1087T>A ENSP00000490598.1:p.Phe363Ile
ENST00000637815.2:c.1090T>A ENSP00000490344.1:p.Phe364Ile
ENST00000637915.1:c.1099T>A ENSP00000490471.1:p.Phe367Ile
ENST00000637937.1:n.416T>A
ENST00000678991.1:c.*969T>A ENSP00000503019.1:n.*969T>A
ENST00000236671.6:c.1108T>A ENSP00000236671.2:p.Phe370Ile
ENST00000427721.2:c.471+169T>A ENSP00000415840.2:n.471+169T>A
ENST00000429746.1:c.439T>A ENSP00000402586.1:p.Phe147Ile
ENST00000433655.5:c.*274T>A ENSP00000404902.1:n.*274T>A
NM_001909.4:c.1108T>A NP_001900.1:p.Phe370Ile
NM_001909.5:c.1108T>A MANE Select NP_001900.1:p.Phe370Ile