Canonical Allele Identifier: CA5814296
Gene: CTSD HGNC NCBI

Linked Data

ClinVar Variation Id: 303841
dbSNP Id: rs368529527
gnomAD v2: 11-1782677-C-T
gnomAD v3: 11-1761447-C-T
gnomAD v4: 11-1761447-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1761447C>T , CM000673.2:g.1761447C>T GRCh38
NC_000011.9:g.1782677C>T , CM000673.1:g.1782677C>T GRCh37
NC_000011.8:g.1739253C>T NCBI36
NG_008655.1:g.7546G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000236671.7:c.90G>A MANE Select ENSP00000236671.2:p.Thr30=
ENST00000367196.4:c.-16G>A ENSP00000356164.4:n.-16G>A
ENST00000429746.2:c.-16G>A ENSP00000402586.2:n.-16G>A
ENST00000433655.6:c.90G>A ENSP00000404902.1:p.Thr30=
ENST00000438213.6:c.90G>A ENSP00000415036.2:p.Thr30=
ENST00000636397.1:c.90G>A ENSP00000489910.1:p.Thr30=
ENST00000636571.1:c.90G>A ENSP00000490770.1:p.Thr30=
ENST00000636615.1:c.90G>A ENSP00000490014.1:p.Thr30=
ENST00000636843.1:c.90G>A ENSP00000490897.1:p.Thr30=
ENST00000637381.2:n.2518G>A
ENST00000637387.1:c.90G>A ENSP00000490598.1:p.Thr30=
ENST00000637815.2:c.90G>A ENSP00000490344.1:p.Thr30=
ENST00000637915.1:c.90G>A ENSP00000490471.1:p.Thr30=
ENST00000678991.1:c.233G>A ENSP00000503019.1:p.Arg78His
ENST00000236671.6:c.90G>A ENSP00000236671.2:p.Thr30=
ENST00000367196.3:c.-16G>A ENSP00000356164.3:n.-16G>A
ENST00000433655.5:c.90G>A ENSP00000404902.1:p.Thr30=
ENST00000438213.5:c.45G>A ENSP00000415036.1:p.Thr15=
NM_001909.4:c.90G>A NP_001900.1:p.Thr30=
NM_001909.5:c.90G>A MANE Select NP_001900.1:p.Thr30=