Canonical Allele Identifier: CA674232246
Gene: CTSD HGNC NCBI

Linked Data

dbSNP Id: rs745578826
gnomAD v3: 11-1753781-C-A
gnomAD v4: 11-1753781-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1753781C>A , CM000673.2:g.1753781C>A GRCh38
NC_000011.9:g.1775011C>A , CM000673.1:g.1775011C>A GRCh37
NC_000011.8:g.1731587C>A NCBI36
NG_008655.1:g.15212G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000236671.7:c.1071+22G>T MANE Select ENSP00000236671.2:n.1071+22G>T
ENST00000367196.4:c.966+22G>T ENSP00000356164.4:n.966+22G>T
ENST00000427721.3:c.496+22G>T
ENST00000429746.2:c.966+22G>T ENSP00000402586.2:n.966+22G>T
ENST00000433655.6:c.*237+22G>T ENSP00000404902.1:n.*237+22G>T
ENST00000438213.6:c.1188+22G>T ENSP00000415036.2:n.1188+22G>T
ENST00000497544.3:n.779+22G>T
ENST00000636397.1:c.1071+22G>T ENSP00000489910.1:n.1071+22G>T
ENST00000636571.1:c.1050+22G>T ENSP00000490770.1:n.1050+22G>T
ENST00000636579.1:c.72+22G>T ENSP00000490489.1:n.72+22G>T
ENST00000636615.1:c.1071+22G>T ENSP00000490014.1:n.1071+22G>T
ENST00000636843.1:c.1065+22G>T ENSP00000490897.1:n.1065+22G>T
ENST00000637158.1:n.669+22G>T
ENST00000637381.2:n.3499+22G>T
ENST00000637387.1:c.1050+22G>T ENSP00000490598.1:n.1050+22G>T
ENST00000637815.2:c.1053+22G>T ENSP00000490344.1:n.1053+22G>T
ENST00000637915.1:c.1071+22G>T ENSP00000490471.1:n.1071+22G>T
ENST00000637937.1:n.379+22G>T
ENST00000678991.1:c.*932+22G>T ENSP00000503019.1:n.*932+22G>T
ENST00000236671.6:c.1071+22G>T ENSP00000236671.2:n.1071+22G>T
ENST00000427721.2:c.471+22G>T ENSP00000415840.2:n.471+22G>T
ENST00000429746.1:c.402+22G>T ENSP00000402586.1:n.402+22G>T
ENST00000433655.5:c.*237+22G>T ENSP00000404902.1:n.*237+22G>T
NM_001909.4:c.1071+22G>T NP_001900.1:n.1071+22G>T
NM_001909.5:c.1071+22G>T MANE Select NP_001900.1:n.1071+22G>T