Canonical Allele Identifier: CA379092659
Gene: CTSD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1753627C>A , CM000673.2:g.1753627C>A GRCh38
NC_000011.9:g.1774857C>A , CM000673.1:g.1774857C>A GRCh37
NC_000011.8:g.1731433C>A NCBI36
NG_008655.1:g.15366G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000236671.7:c.1115G>T MANE Select ENSP00000236671.2:p.Gly372Val
ENST00000367196.4:c.1010G>T ENSP00000356164.4:p.Gly337Val
ENST00000427721.3:c.540G>T
ENST00000429746.2:c.1010G>T ENSP00000402586.2:p.Gly337Val
ENST00000433655.6:c.*281G>T ENSP00000404902.1:n.*281G>T
ENST00000438213.6:c.1232G>T ENSP00000415036.2:p.Gly411Val
ENST00000636397.1:c.1071+176G>T ENSP00000489910.1:n.1071+176G>T
ENST00000636571.1:c.1094G>T ENSP00000490770.1:p.Gly365Val
ENST00000636579.1:c.72+176G>T ENSP00000490489.1:n.72+176G>T
ENST00000636615.1:c.1071+176G>T ENSP00000490014.1:n.1071+176G>T
ENST00000636843.1:c.1109G>T ENSP00000490897.1:p.Gly370Val
ENST00000637158.1:n.713G>T
ENST00000637381.2:n.3543G>T
ENST00000637387.1:c.1094G>T ENSP00000490598.1:p.Gly365Val
ENST00000637815.2:c.1097G>T ENSP00000490344.1:p.Gly366Val
ENST00000637915.1:c.1106G>T ENSP00000490471.1:p.Gly369Val
ENST00000637937.1:n.423G>T
ENST00000678991.1:c.*976G>T ENSP00000503019.1:n.*976G>T
ENST00000236671.6:c.1115G>T ENSP00000236671.2:p.Gly372Val
ENST00000427721.2:c.471+176G>T ENSP00000415840.2:n.471+176G>T
ENST00000429746.1:c.446G>T ENSP00000402586.1:p.Gly149Val
ENST00000433655.5:c.*281G>T ENSP00000404902.1:n.*281G>T
NM_001909.4:c.1115G>T NP_001900.1:p.Gly372Val
NM_001909.5:c.1115G>T MANE Select NP_001900.1:p.Gly372Val