Canonical Allele Identifier: CA5813899
Gene: CTSD HGNC NCBI

Linked Data

ClinVar Variation Id: 1056900
ClinVar RCV Id: RCV001365795
dbSNP Id: rs545364302
gnomAD v2: 11-1774896-G-A
gnomAD v3: 11-1753666-G-A
gnomAD v4: 11-1753666-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1753666G>A , CM000673.2:g.1753666G>A GRCh38
NC_000011.9:g.1774896G>A , CM000673.1:g.1774896G>A GRCh37
NC_000011.8:g.1731472G>A NCBI36
NG_008655.1:g.15327C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000236671.7:c.1076C>T MANE Select ENSP00000236671.2:p.Ser359Leu
ENST00000367196.4:c.971C>T ENSP00000356164.4:p.Ser324Leu
ENST00000427721.3:c.501C>T
ENST00000429746.2:c.971C>T ENSP00000402586.2:p.Ser324Leu
ENST00000433655.6:c.*242C>T ENSP00000404902.1:n.*242C>T
ENST00000438213.6:c.1193C>T ENSP00000415036.2:p.Ser398Leu
ENST00000497544.3:n.784C>T
ENST00000636397.1:c.1071+137C>T ENSP00000489910.1:n.1071+137C>T
ENST00000636571.1:c.1055C>T ENSP00000490770.1:p.Ser352Leu
ENST00000636579.1:c.72+137C>T ENSP00000490489.1:n.72+137C>T
ENST00000636615.1:c.1071+137C>T ENSP00000490014.1:n.1071+137C>T
ENST00000636843.1:c.1070C>T ENSP00000490897.1:p.Ser357Leu
ENST00000637158.1:n.674C>T
ENST00000637381.2:n.3504C>T
ENST00000637387.1:c.1055C>T ENSP00000490598.1:p.Ser352Leu
ENST00000637815.2:c.1058C>T ENSP00000490344.1:p.Ser353Leu
ENST00000637915.1:c.1072-5C>T ENSP00000490471.1:n.1072-5C>T
ENST00000637937.1:n.384C>T
ENST00000678991.1:c.*937C>T ENSP00000503019.1:n.*937C>T
ENST00000236671.6:c.1076C>T ENSP00000236671.2:p.Ser359Leu
ENST00000427721.2:c.471+137C>T ENSP00000415840.2:n.471+137C>T
ENST00000429746.1:c.407C>T ENSP00000402586.1:p.Ser136Leu
ENST00000433655.5:c.*242C>T ENSP00000404902.1:n.*242C>T
NM_001909.4:c.1076C>T NP_001900.1:p.Ser359Leu
NM_001909.5:c.1076C>T MANE Select NP_001900.1:p.Ser359Leu