Canonical Allele Identifier: CA2611926814
Gene: CTSD HGNC NCBI

Linked Data

gnomAD v4: 11-1753453-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1753453G>T , CM000673.2:g.1753453G>T GRCh38
NC_000011.9:g.1774683G>T , CM000673.1:g.1774683G>T GRCh37
NC_000011.8:g.1731259G>T NCBI36
NG_008655.1:g.15540C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000236671.7:c.*50C>A MANE Select ENSP00000236671.2:n.*50C>A
ENST00000367196.4:c.*50C>A ENSP00000356164.4:n.*50C>A
ENST00000427721.3:c.634+80C>A
ENST00000429746.2:c.*50C>A ENSP00000402586.2:n.*50C>A
ENST00000433655.6:c.*455C>A ENSP00000404902.1:n.*455C>A
ENST00000438213.6:c.*50C>A ENSP00000415036.2:n.*50C>A
ENST00000636397.1:c.1071+350C>A ENSP00000489910.1:n.1071+350C>A
ENST00000636571.1:c.*50C>A ENSP00000490770.1:n.*50C>A
ENST00000636579.1:c.72+350C>A ENSP00000490489.1:n.72+350C>A
ENST00000636615.1:c.1071+350C>A ENSP00000490014.1:n.1071+350C>A
ENST00000636843.1:c.*50C>A ENSP00000490897.1:n.*50C>A
ENST00000637158.1:n.887C>A
ENST00000637381.2:n.3717C>A
ENST00000637387.1:c.*50C>A ENSP00000490598.1:n.*50C>A
ENST00000637815.2:c.*50C>A ENSP00000490344.1:n.*50C>A
ENST00000637915.1:c.*50C>A ENSP00000490471.1:n.*50C>A
ENST00000637937.1:n.597C>A
ENST00000678991.1:c.*1150C>A ENSP00000503019.1:n.*1150C>A
ENST00000236671.6:c.*50C>A ENSP00000236671.2:n.*50C>A
ENST00000427721.2:c.471+350C>A ENSP00000415840.2:n.471+350C>A
ENST00000429746.1:c.620C>A ENSP00000402586.1:n.620C>A
ENST00000433655.5:c.*455C>A ENSP00000404902.1:n.*455C>A
NM_001909.4:c.*50C>A NP_001900.1:n.*50C>A
NM_001909.5:c.*50C>A MANE Select NP_001900.1:n.*50C>A