Canonical Allele Identifier: CA379092693
Gene: CTSD HGNC NCBI

Linked Data

ClinVar Variation Id: 1022422
ClinVar RCV Id: RCV001322328
dbSNP Id: rs1845755979
gnomAD v4: 11-1753637-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1753637C>T , CM000673.2:g.1753637C>T GRCh38
NC_000011.9:g.1774867C>T , CM000673.1:g.1774867C>T GRCh37
NC_000011.8:g.1731443C>T NCBI36
NG_008655.1:g.15356G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000236671.7:c.1105G>A MANE Select ENSP00000236671.2:p.Gly369Ser
ENST00000367196.4:c.1000G>A ENSP00000356164.4:p.Gly334Ser
ENST00000427721.3:c.530G>A
ENST00000429746.2:c.1000G>A ENSP00000402586.2:p.Gly334Ser
ENST00000433655.6:c.*271G>A ENSP00000404902.1:n.*271G>A
ENST00000438213.6:c.1222G>A ENSP00000415036.2:p.Gly408Ser
ENST00000636397.1:c.1071+166G>A ENSP00000489910.1:n.1071+166G>A
ENST00000636571.1:c.1084G>A ENSP00000490770.1:p.Gly362Ser
ENST00000636579.1:c.72+166G>A ENSP00000490489.1:n.72+166G>A
ENST00000636615.1:c.1071+166G>A ENSP00000490014.1:n.1071+166G>A
ENST00000636843.1:c.1099G>A ENSP00000490897.1:p.Gly367Ser
ENST00000637158.1:n.703G>A
ENST00000637381.2:n.3533G>A
ENST00000637387.1:c.1084G>A ENSP00000490598.1:p.Gly362Ser
ENST00000637815.2:c.1087G>A ENSP00000490344.1:p.Gly363Ser
ENST00000637915.1:c.1096G>A ENSP00000490471.1:p.Gly366Ser
ENST00000637937.1:n.413G>A
ENST00000678991.1:c.*966G>A ENSP00000503019.1:n.*966G>A
ENST00000236671.6:c.1105G>A ENSP00000236671.2:p.Gly369Ser
ENST00000427721.2:c.471+166G>A ENSP00000415840.2:n.471+166G>A
ENST00000429746.1:c.436G>A ENSP00000402586.1:p.Gly146Ser
ENST00000433655.5:c.*271G>A ENSP00000404902.1:n.*271G>A
NM_001909.4:c.1105G>A NP_001900.1:p.Gly369Ser
NM_001909.5:c.1105G>A MANE Select NP_001900.1:p.Gly369Ser