Canonical Allele Identifier: CA2611926909
Gene: CTSD HGNC NCBI

Linked Data

gnomAD v4: 11-1753499-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1753499G>T , CM000673.2:g.1753499G>T GRCh38
NC_000011.9:g.1774729G>T , CM000673.1:g.1774729G>T GRCh37
NC_000011.8:g.1731305G>T NCBI36
NG_008655.1:g.15494C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000236671.7:c.*4C>A MANE Select ENSP00000236671.2:n.*4C>A
ENST00000367196.4:c.*4C>A ENSP00000356164.4:n.*4C>A
ENST00000427721.3:c.634+34C>A
ENST00000429746.2:c.*4C>A ENSP00000402586.2:n.*4C>A
ENST00000433655.6:c.*409C>A ENSP00000404902.1:n.*409C>A
ENST00000438213.6:c.*4C>A ENSP00000415036.2:n.*4C>A
ENST00000636397.1:c.1071+304C>A ENSP00000489910.1:n.1071+304C>A
ENST00000636571.1:c.*4C>A ENSP00000490770.1:n.*4C>A
ENST00000636579.1:c.72+304C>A ENSP00000490489.1:n.72+304C>A
ENST00000636615.1:c.1071+304C>A ENSP00000490014.1:n.1071+304C>A
ENST00000636843.1:c.*4C>A ENSP00000490897.1:n.*4C>A
ENST00000637158.1:n.841C>A
ENST00000637381.2:n.3671C>A
ENST00000637387.1:c.*4C>A ENSP00000490598.1:n.*4C>A
ENST00000637815.2:c.*4C>A ENSP00000490344.1:n.*4C>A
ENST00000637915.1:c.*4C>A ENSP00000490471.1:n.*4C>A
ENST00000637937.1:n.551C>A
ENST00000678991.1:c.*1104C>A ENSP00000503019.1:n.*1104C>A
ENST00000236671.6:c.*4C>A ENSP00000236671.2:n.*4C>A
ENST00000427721.2:c.471+304C>A ENSP00000415840.2:n.471+304C>A
ENST00000429746.1:c.574C>A ENSP00000402586.1:n.574C>A
ENST00000433655.5:c.*409C>A ENSP00000404902.1:n.*409C>A
NM_001909.4:c.*4C>A NP_001900.1:n.*4C>A
NM_001909.5:c.*4C>A MANE Select NP_001900.1:n.*4C>A