Canonical Allele Identifier: CA1947825155
Gene: CTSD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1753641C= , CM000673.2:g.1753641C= GRCh38
NC_000011.9:g.1774871C= , CM000673.1:g.1774871C= GRCh37
NC_000011.8:g.1731447C= NCBI36
NG_008655.1:g.15352G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000236671.7:c.1101G= MANE Select ENSP00000236671.2:p.Leu367=
ENST00000367196.4:c.996G= ENSP00000356164.4:p.Leu332=
ENST00000427721.3:c.526G=
ENST00000429746.2:c.996G= ENSP00000402586.2:p.Leu332=
ENST00000433655.6:c.*267G= ENSP00000404902.1:n.*267G=
ENST00000438213.6:c.1218G= ENSP00000415036.2:p.Leu406=
ENST00000636397.1:c.1071+162G= ENSP00000489910.1:n.1071+162G=
ENST00000636571.1:c.1080G= ENSP00000490770.1:p.Leu360=
ENST00000636579.1:c.72+162G= ENSP00000490489.1:n.72+162G=
ENST00000636615.1:c.1071+162G= ENSP00000490014.1:n.1071+162G=
ENST00000636843.1:c.1095G= ENSP00000490897.1:p.Leu365=
ENST00000637158.1:n.699G=
ENST00000637381.2:n.3529G=
ENST00000637387.1:c.1080G= ENSP00000490598.1:p.Leu360=
ENST00000637815.2:c.1083G= ENSP00000490344.1:p.Leu361=
ENST00000637915.1:c.1092G= ENSP00000490471.1:p.Leu364=
ENST00000637937.1:n.409G=
ENST00000678991.1:c.*962G= ENSP00000503019.1:n.*962G=
ENST00000236671.6:c.1101G= ENSP00000236671.2:p.Leu367=
ENST00000427721.2:c.471+162G= ENSP00000415840.2:n.471+162G=
ENST00000429746.1:c.432G= ENSP00000402586.1:p.Leu144=
ENST00000433655.5:c.*267G= ENSP00000404902.1:n.*267G=
NM_001909.4:c.1101G= NP_001900.1:p.Leu367=
NM_001909.5:c.1101G= MANE Select NP_001900.1:p.Leu367=