Canonical Allele Identifier: CA379092676
Gene: CTSD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1753632G>T , CM000673.2:g.1753632G>T GRCh38
NC_000011.9:g.1774862G>T , CM000673.1:g.1774862G>T GRCh37
NC_000011.8:g.1731438G>T NCBI36
NG_008655.1:g.15361C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000236671.7:c.1110C>A MANE Select ENSP00000236671.2:p.Phe370Leu
ENST00000367196.4:c.1005C>A ENSP00000356164.4:p.Phe335Leu
ENST00000427721.3:c.535C>A
ENST00000429746.2:c.1005C>A ENSP00000402586.2:p.Phe335Leu
ENST00000433655.6:c.*276C>A ENSP00000404902.1:n.*276C>A
ENST00000438213.6:c.1227C>A ENSP00000415036.2:p.Phe409Leu
ENST00000636397.1:c.1071+171C>A ENSP00000489910.1:n.1071+171C>A
ENST00000636571.1:c.1089C>A ENSP00000490770.1:p.Phe363Leu
ENST00000636579.1:c.72+171C>A ENSP00000490489.1:n.72+171C>A
ENST00000636615.1:c.1071+171C>A ENSP00000490014.1:n.1071+171C>A
ENST00000636843.1:c.1104C>A ENSP00000490897.1:p.Phe368Leu
ENST00000637158.1:n.708C>A
ENST00000637381.2:n.3538C>A
ENST00000637387.1:c.1089C>A ENSP00000490598.1:p.Phe363Leu
ENST00000637815.2:c.1092C>A ENSP00000490344.1:p.Phe364Leu
ENST00000637915.1:c.1101C>A ENSP00000490471.1:p.Phe367Leu
ENST00000637937.1:n.418C>A
ENST00000678991.1:c.*971C>A ENSP00000503019.1:n.*971C>A
ENST00000236671.6:c.1110C>A ENSP00000236671.2:p.Phe370Leu
ENST00000427721.2:c.471+171C>A ENSP00000415840.2:n.471+171C>A
ENST00000429746.1:c.441C>A ENSP00000402586.1:p.Phe147Leu
ENST00000433655.5:c.*276C>A ENSP00000404902.1:n.*276C>A
NM_001909.4:c.1110C>A NP_001900.1:p.Phe370Leu
NM_001909.5:c.1110C>A MANE Select NP_001900.1:p.Phe370Leu