Canonical Allele Identifier: CA5813943
Gene: CTSD HGNC NCBI

Linked Data

ClinVar Variation Id: 409621
ClinVar RCV Id: RCV000471585
dbSNP Id: rs759803379
gnomAD v2: 11-1775027-G-A
gnomAD v3: 11-1753797-G-A
gnomAD v4: 11-1753797-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1753797G>A , CM000673.2:g.1753797G>A GRCh38
NC_000011.9:g.1775027G>A , CM000673.1:g.1775027G>A GRCh37
NC_000011.8:g.1731603G>A NCBI36
NG_008655.1:g.15196C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000236671.7:c.1071+6C>T MANE Select ENSP00000236671.2:n.1071+6C>T
ENST00000367196.4:c.966+6C>T ENSP00000356164.4:n.966+6C>T
ENST00000427721.3:c.496+6C>T
ENST00000429746.2:c.966+6C>T ENSP00000402586.2:n.966+6C>T
ENST00000433655.6:c.*237+6C>T ENSP00000404902.1:n.*237+6C>T
ENST00000438213.6:c.1188+6C>T ENSP00000415036.2:n.1188+6C>T
ENST00000497544.3:n.779+6C>T
ENST00000636397.1:c.1071+6C>T ENSP00000489910.1:n.1071+6C>T
ENST00000636571.1:c.1050+6C>T ENSP00000490770.1:n.1050+6C>T
ENST00000636579.1:c.72+6C>T ENSP00000490489.1:n.72+6C>T
ENST00000636615.1:c.1071+6C>T ENSP00000490014.1:n.1071+6C>T
ENST00000636843.1:c.1065+6C>T ENSP00000490897.1:n.1065+6C>T
ENST00000637158.1:n.669+6C>T
ENST00000637381.2:n.3499+6C>T
ENST00000637387.1:c.1050+6C>T ENSP00000490598.1:n.1050+6C>T
ENST00000637815.2:c.1053+6C>T ENSP00000490344.1:n.1053+6C>T
ENST00000637915.1:c.1071+6C>T ENSP00000490471.1:n.1071+6C>T
ENST00000637937.1:n.379+6C>T
ENST00000678991.1:c.*932+6C>T ENSP00000503019.1:n.*932+6C>T
ENST00000236671.6:c.1071+6C>T ENSP00000236671.2:n.1071+6C>T
ENST00000427721.2:c.471+6C>T ENSP00000415840.2:n.471+6C>T
ENST00000429746.1:c.402+6C>T ENSP00000402586.1:n.402+6C>T
ENST00000433655.5:c.*237+6C>T ENSP00000404902.1:n.*237+6C>T
NM_001909.4:c.1071+6C>T NP_001900.1:n.1071+6C>T
NM_001909.5:c.1071+6C>T MANE Select NP_001900.1:n.1071+6C>T