Canonical Allele Identifier: CA2611926813
Gene: CTSD HGNC NCBI

Linked Data

gnomAD v4: 11-1753452-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1753452T>C , CM000673.2:g.1753452T>C GRCh38
NC_000011.9:g.1774682T>C , CM000673.1:g.1774682T>C GRCh37
NC_000011.8:g.1731258T>C NCBI36
NG_008655.1:g.15541A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000236671.7:c.*51A>G MANE Select ENSP00000236671.2:n.*51A>G
ENST00000367196.4:c.*51A>G ENSP00000356164.4:n.*51A>G
ENST00000427721.3:c.634+81A>G
ENST00000429746.2:c.*51A>G ENSP00000402586.2:n.*51A>G
ENST00000433655.6:c.*456A>G ENSP00000404902.1:n.*456A>G
ENST00000438213.6:c.*51A>G ENSP00000415036.2:n.*51A>G
ENST00000636397.1:c.1071+351A>G ENSP00000489910.1:n.1071+351A>G
ENST00000636571.1:c.*51A>G ENSP00000490770.1:n.*51A>G
ENST00000636579.1:c.72+351A>G ENSP00000490489.1:n.72+351A>G
ENST00000636615.1:c.1071+351A>G ENSP00000490014.1:n.1071+351A>G
ENST00000636843.1:c.*51A>G ENSP00000490897.1:n.*51A>G
ENST00000637158.1:n.888A>G
ENST00000637381.2:n.3718A>G
ENST00000637387.1:c.*51A>G ENSP00000490598.1:n.*51A>G
ENST00000637815.2:c.*51A>G ENSP00000490344.1:n.*51A>G
ENST00000637915.1:c.*51A>G ENSP00000490471.1:n.*51A>G
ENST00000637937.1:n.598A>G
ENST00000678991.1:c.*1151A>G ENSP00000503019.1:n.*1151A>G
ENST00000236671.6:c.*51A>G ENSP00000236671.2:n.*51A>G
ENST00000427721.2:c.471+351A>G ENSP00000415840.2:n.471+351A>G
ENST00000429746.1:c.621A>G ENSP00000402586.1:n.621A>G
ENST00000433655.5:c.*456A>G ENSP00000404902.1:n.*456A>G
NM_001909.4:c.*51A>G NP_001900.1:n.*51A>G
NM_001909.5:c.*51A>G MANE Select NP_001900.1:n.*51A>G