Canonical Allele Identifier: CA2611926782
Gene: CTSD HGNC NCBI

Linked Data

gnomAD v4: 11-1753435-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1753435C>A , CM000673.2:g.1753435C>A GRCh38
NC_000011.9:g.1774665C>A , CM000673.1:g.1774665C>A GRCh37
NC_000011.8:g.1731241C>A NCBI36
NG_008655.1:g.15558G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000236671.7:c.*68G>T MANE Select ENSP00000236671.2:n.*68G>T
ENST00000367196.4:c.*68G>T ENSP00000356164.4:n.*68G>T
ENST00000427721.3:c.634+98G>T
ENST00000429746.2:c.*68G>T ENSP00000402586.2:n.*68G>T
ENST00000433655.6:c.*473G>T ENSP00000404902.1:n.*473G>T
ENST00000438213.6:c.*68G>T ENSP00000415036.2:n.*68G>T
ENST00000636397.1:c.1071+368G>T ENSP00000489910.1:n.1071+368G>T
ENST00000636571.1:c.*68G>T ENSP00000490770.1:n.*68G>T
ENST00000636579.1:c.72+368G>T ENSP00000490489.1:n.72+368G>T
ENST00000636615.1:c.1071+368G>T ENSP00000490014.1:n.1071+368G>T
ENST00000636843.1:c.*68G>T ENSP00000490897.1:n.*68G>T
ENST00000637158.1:n.905G>T
ENST00000637381.2:n.3735G>T
ENST00000637387.1:c.*68G>T ENSP00000490598.1:n.*68G>T
ENST00000637815.2:c.*68G>T ENSP00000490344.1:n.*68G>T
ENST00000637915.1:c.*68G>T ENSP00000490471.1:n.*68G>T
ENST00000637937.1:n.615G>T
ENST00000678991.1:c.*1168G>T ENSP00000503019.1:n.*1168G>T
ENST00000236671.6:c.*68G>T ENSP00000236671.2:n.*68G>T
ENST00000427721.2:c.471+368G>T ENSP00000415840.2:n.471+368G>T
ENST00000429746.1:c.638G>T ENSP00000402586.1:n.638G>T
ENST00000433655.5:c.*473G>T ENSP00000404902.1:n.*473G>T
NM_001909.4:c.*68G>T NP_001900.1:n.*68G>T
NM_001909.5:c.*68G>T MANE Select NP_001900.1:n.*68G>T