Canonical Allele Identifier: CA276038
Gene: CTSD HGNC NCBI

Linked Data

ClinVar Variation Id: 208849
dbSNP Id: rs797045138
gnomAD v2: 11-1774776-C-T
gnomAD v4: 11-1753546-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1753546C>T , CM000673.2:g.1753546C>T GRCh38
NC_000011.9:g.1774776C>T , CM000673.1:g.1774776C>T GRCh37
NC_000011.8:g.1731352C>T NCBI36
NG_008655.1:g.15447G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000236671.7:c.1196G>A MANE Select ENSP00000236671.2:p.Arg399His
ENST00000367196.4:c.1091G>A ENSP00000356164.4:p.Arg364His
ENST00000427721.3:c.621G>A
ENST00000429746.2:c.1091G>A ENSP00000402586.2:p.Arg364His
ENST00000433655.6:c.*362G>A ENSP00000404902.1:n.*362G>A
ENST00000438213.6:c.1313G>A ENSP00000415036.2:p.Arg438His
ENST00000636397.1:c.1071+257G>A ENSP00000489910.1:n.1071+257G>A
ENST00000636571.1:c.1175G>A ENSP00000490770.1:p.Arg392His
ENST00000636579.1:c.72+257G>A ENSP00000490489.1:n.72+257G>A
ENST00000636615.1:c.1071+257G>A ENSP00000490014.1:n.1071+257G>A
ENST00000636843.1:c.1190G>A ENSP00000490897.1:p.Arg397His
ENST00000637158.1:n.794G>A
ENST00000637381.2:n.3624G>A
ENST00000637387.1:c.1175G>A ENSP00000490598.1:p.Arg392His
ENST00000637815.2:c.1178G>A ENSP00000490344.1:p.Arg393His
ENST00000637915.1:c.1187G>A ENSP00000490471.1:p.Arg396His
ENST00000637937.1:n.504G>A
ENST00000678991.1:c.*1057G>A ENSP00000503019.1:n.*1057G>A
ENST00000236671.6:c.1196G>A ENSP00000236671.2:p.Arg399His
ENST00000427721.2:c.471+257G>A ENSP00000415840.2:n.471+257G>A
ENST00000429746.1:c.527G>A ENSP00000402586.1:p.Arg176His
ENST00000433655.5:c.*362G>A ENSP00000404902.1:n.*362G>A
NM_001909.4:c.1196G>A NP_001900.1:p.Arg399His
NM_001909.5:c.1196G>A MANE Select NP_001900.1:p.Arg399His