Canonical Allele Identifier: CA379093786
Gene: CTSD HGNC NCBI

Linked Data

gnomAD v4: 11-1754046-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1754046T>C , CM000673.2:g.1754046T>C GRCh38
NC_000011.9:g.1775276T>C , CM000673.1:g.1775276T>C GRCh37
NC_000011.8:g.1731852T>C NCBI36
NG_008655.1:g.14947A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000236671.7:c.920A>G MANE Select ENSP00000236671.2:p.Glu307Gly
ENST00000367196.4:c.815A>G ENSP00000356164.4:p.Glu272Gly
ENST00000427721.3:c.345A>G
ENST00000429746.2:c.815A>G ENSP00000402586.2:p.Glu272Gly
ENST00000433655.6:c.*86A>G ENSP00000404902.1:n.*86A>G
ENST00000438213.6:c.1037A>G ENSP00000415036.2:p.Glu346Gly
ENST00000497544.3:n.536A>G
ENST00000636397.1:c.920A>G ENSP00000489910.1:p.Glu307Gly
ENST00000636571.1:c.899A>G ENSP00000490770.1:p.Glu300Gly
ENST00000636615.1:c.920A>G ENSP00000490014.1:p.Glu307Gly
ENST00000636843.1:c.914A>G ENSP00000490897.1:p.Glu305Gly
ENST00000637158.1:n.518A>G
ENST00000637381.2:n.3348A>G
ENST00000637387.1:c.920A>G ENSP00000490598.1:p.Glu307Gly
ENST00000637815.2:c.902A>G ENSP00000490344.1:p.Glu301Gly
ENST00000637915.1:c.920A>G ENSP00000490471.1:p.Glu307Gly
ENST00000637937.1:n.228A>G
ENST00000678991.1:c.*781A>G ENSP00000503019.1:n.*781A>G
ENST00000236671.6:c.920A>G ENSP00000236671.2:p.Glu307Gly
ENST00000427721.2:c.320A>G ENSP00000415840.2:p.Glu107Gly
ENST00000429746.1:c.251A>G ENSP00000402586.1:p.Glu84Gly
ENST00000433655.5:c.*86A>G ENSP00000404902.1:n.*86A>G
ENST00000438213.5:c.875A>G ENSP00000415036.1:p.Glu292Gly
ENST00000497544.1:n.536A>G
NM_001909.4:c.920A>G NP_001900.1:p.Glu307Gly
NM_001909.5:c.920A>G MANE Select NP_001900.1:p.Glu307Gly