Canonical Allele Identifier: CA379098495
Gene: CTSD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1759611C>A , CM000673.2:g.1759611C>A GRCh38
NC_000011.9:g.1780841C>A , CM000673.1:g.1780841C>A GRCh37
NC_000011.8:g.1737417C>A NCBI36
NG_008655.1:g.9382G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000236671.7:c.257G>T MANE Select ENSP00000236671.2:p.Gly86Val
ENST00000367196.4:c.152G>T ENSP00000356164.4:p.Gly51Val
ENST00000429746.2:c.152G>T ENSP00000402586.2:p.Gly51Val
ENST00000433655.6:c.257G>T ENSP00000404902.1:p.Gly86Val
ENST00000438213.6:c.257G>T ENSP00000415036.2:p.Gly86Val
ENST00000636397.1:c.257G>T ENSP00000489910.1:p.Gly86Val
ENST00000636571.1:c.236G>T ENSP00000490770.1:p.Gly79Val
ENST00000636615.1:c.257G>T ENSP00000490014.1:p.Gly86Val
ENST00000636843.1:c.251G>T ENSP00000490897.1:p.Gly84Val
ENST00000637381.2:n.2685G>T
ENST00000637387.1:c.257G>T ENSP00000490598.1:p.Gly86Val
ENST00000637815.2:c.257G>T ENSP00000490344.1:p.Gly86Val
ENST00000637915.1:c.257G>T ENSP00000490471.1:p.Gly86Val
ENST00000677300.1:n.652G>T
ENST00000678991.1:c.*118G>T ENSP00000503019.1:n.*118G>T
ENST00000236671.6:c.257G>T ENSP00000236671.2:p.Gly86Val
ENST00000367196.3:c.152G>T ENSP00000356164.3:p.Gly51Val
ENST00000433655.5:c.257G>T ENSP00000404902.1:p.Gly86Val
ENST00000438213.5:c.212G>T ENSP00000415036.1:p.Gly71Val
NM_001909.4:c.257G>T NP_001900.1:p.Gly86Val
NM_001909.5:c.257G>T MANE Select NP_001900.1:p.Gly86Val