Canonical Allele Identifier: CA152533
Gene: CTSD HGNC NCBI

Linked Data

ClinVar Variation Id: 128871
dbSNP Id: rs141981301
gnomAD v2: 11-1774835-G-A
gnomAD v3: 11-1753605-G-A
gnomAD v4: 11-1753605-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1753605G>A , CM000673.2:g.1753605G>A GRCh38
NC_000011.9:g.1774835G>A , CM000673.1:g.1774835G>A GRCh37
NC_000011.8:g.1731411G>A NCBI36
NG_008655.1:g.15388C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000236671.7:c.1137C>T MANE Select ENSP00000236671.2:p.Ser379=
ENST00000367196.4:c.1032C>T ENSP00000356164.4:p.Ser344=
ENST00000427721.3:c.562C>T
ENST00000429746.2:c.1032C>T ENSP00000402586.2:p.Ser344=
ENST00000433655.6:c.*303C>T ENSP00000404902.1:n.*303C>T
ENST00000438213.6:c.1254C>T ENSP00000415036.2:p.Ser418=
ENST00000636397.1:c.1071+198C>T ENSP00000489910.1:n.1071+198C>T
ENST00000636571.1:c.1116C>T ENSP00000490770.1:p.Ser372=
ENST00000636579.1:c.72+198C>T ENSP00000490489.1:n.72+198C>T
ENST00000636615.1:c.1071+198C>T ENSP00000490014.1:n.1071+198C>T
ENST00000636843.1:c.1131C>T ENSP00000490897.1:p.Ser377=
ENST00000637158.1:n.735C>T
ENST00000637381.2:n.3565C>T
ENST00000637387.1:c.1116C>T ENSP00000490598.1:p.Ser372=
ENST00000637815.2:c.1119C>T ENSP00000490344.1:p.Ser373=
ENST00000637915.1:c.1128C>T ENSP00000490471.1:p.Ser376=
ENST00000637937.1:n.445C>T
ENST00000678991.1:c.*998C>T ENSP00000503019.1:n.*998C>T
ENST00000236671.6:c.1137C>T ENSP00000236671.2:p.Ser379=
ENST00000427721.2:c.471+198C>T ENSP00000415840.2:n.471+198C>T
ENST00000429746.1:c.468C>T ENSP00000402586.1:p.Ser156=
ENST00000433655.5:c.*303C>T ENSP00000404902.1:n.*303C>T
NM_001909.4:c.1137C>T NP_001900.1:p.Ser379=
NM_001909.5:c.1137C>T MANE Select NP_001900.1:p.Ser379=