Canonical Allele Identifier: CA1947825116
Gene: CTSD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1753567C= , CM000673.2:g.1753567C= GRCh38
NC_000011.9:g.1774797C= , CM000673.1:g.1774797C= GRCh37
NC_000011.8:g.1731373C= NCBI36
NG_008655.1:g.15426G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000236671.7:c.1175G= MANE Select ENSP00000236671.2:p.Arg392=
ENST00000367196.4:c.1070G= ENSP00000356164.4:p.Arg357=
ENST00000427721.3:c.600G=
ENST00000429746.2:c.1070G= ENSP00000402586.2:p.Arg357=
ENST00000433655.6:c.*341G= ENSP00000404902.1:n.*341G=
ENST00000438213.6:c.1292G= ENSP00000415036.2:p.Arg431=
ENST00000636397.1:c.1071+236G= ENSP00000489910.1:n.1071+236G=
ENST00000636571.1:c.1154G= ENSP00000490770.1:p.Arg385=
ENST00000636579.1:c.72+236G= ENSP00000490489.1:n.72+236G=
ENST00000636615.1:c.1071+236G= ENSP00000490014.1:n.1071+236G=
ENST00000636843.1:c.1169G= ENSP00000490897.1:p.Arg390=
ENST00000637158.1:n.773G=
ENST00000637381.2:n.3603G=
ENST00000637387.1:c.1154G= ENSP00000490598.1:p.Arg385=
ENST00000637815.2:c.1157G= ENSP00000490344.1:p.Arg386=
ENST00000637915.1:c.1166G= ENSP00000490471.1:p.Arg389=
ENST00000637937.1:n.483G=
ENST00000678991.1:c.*1036G= ENSP00000503019.1:n.*1036G=
ENST00000236671.6:c.1175G= ENSP00000236671.2:p.Arg392=
ENST00000427721.2:c.471+236G= ENSP00000415840.2:n.471+236G=
ENST00000429746.1:c.506G= ENSP00000402586.1:p.Arg169=
ENST00000433655.5:c.*341G= ENSP00000404902.1:n.*341G=
NM_001909.4:c.1175G= NP_001900.1:p.Arg392=
NM_001909.5:c.1175G= MANE Select NP_001900.1:p.Arg392=