Canonical Allele Identifier: CA1947825097
Gene: CTSD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1753523C= , CM000673.2:g.1753523C= GRCh38
NC_000011.9:g.1774753C= , CM000673.1:g.1774753C= GRCh37
NC_000011.8:g.1731329C= NCBI36
NG_008655.1:g.15470G=

Transcript Alleles

HGVS Amino-acid change
ENST00000236671.7:c.1219G= MANE Select ENSP00000236671.2:p.Ala407=
ENST00000367196.4:c.1114G= ENSP00000356164.4:p.Ala372=
ENST00000427721.3:c.634+10G=
ENST00000429746.2:c.1114G= ENSP00000402586.2:p.Ala372=
ENST00000433655.6:c.*385G= ENSP00000404902.1:n.*385G=
ENST00000438213.6:c.1336G= ENSP00000415036.2:p.Ala446=
ENST00000636397.1:c.1071+280G= ENSP00000489910.1:n.1071+280G=
ENST00000636571.1:c.1198G= ENSP00000490770.1:p.Ala400=
ENST00000636579.1:c.72+280G= ENSP00000490489.1:n.72+280G=
ENST00000636615.1:c.1071+280G= ENSP00000490014.1:n.1071+280G=
ENST00000636843.1:c.1213G= ENSP00000490897.1:p.Ala405=
ENST00000637158.1:n.817G=
ENST00000637381.2:n.3647G=
ENST00000637387.1:c.1198G= ENSP00000490598.1:p.Ala400=
ENST00000637815.2:c.1201G= ENSP00000490344.1:p.Ala401=
ENST00000637915.1:c.1210G= ENSP00000490471.1:p.Ala404=
ENST00000637937.1:n.527G=
ENST00000678991.1:c.*1080G= ENSP00000503019.1:n.*1080G=
ENST00000236671.6:c.1219G= ENSP00000236671.2:p.Ala407=
ENST00000427721.2:c.471+280G= ENSP00000415840.2:n.471+280G=
ENST00000429746.1:c.550G= ENSP00000402586.1:p.Ala184=
ENST00000433655.5:c.*385G= ENSP00000404902.1:n.*385G=
NM_001909.4:c.1219G= NP_001900.1:p.Ala407=
NM_001909.5:c.1219G= MANE Select NP_001900.1:p.Ala407=