Canonical Allele Identifier: CA1947825134
Gene: CTSD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1753606C= , CM000673.2:g.1753606C= GRCh38
NC_000011.9:g.1774836C= , CM000673.1:g.1774836C= GRCh37
NC_000011.8:g.1731412C= NCBI36
NG_008655.1:g.15387G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000236671.7:c.1136G= MANE Select ENSP00000236671.2:p.Ser379=
ENST00000367196.4:c.1031G= ENSP00000356164.4:p.Ser344=
ENST00000427721.3:c.561G=
ENST00000429746.2:c.1031G= ENSP00000402586.2:p.Ser344=
ENST00000433655.6:c.*302G= ENSP00000404902.1:n.*302G=
ENST00000438213.6:c.1253G= ENSP00000415036.2:p.Ser418=
ENST00000636397.1:c.1071+197G= ENSP00000489910.1:n.1071+197G=
ENST00000636571.1:c.1115G= ENSP00000490770.1:p.Ser372=
ENST00000636579.1:c.72+197G= ENSP00000490489.1:n.72+197G=
ENST00000636615.1:c.1071+197G= ENSP00000490014.1:n.1071+197G=
ENST00000636843.1:c.1130G= ENSP00000490897.1:p.Ser377=
ENST00000637158.1:n.734G=
ENST00000637381.2:n.3564G=
ENST00000637387.1:c.1115G= ENSP00000490598.1:p.Ser372=
ENST00000637815.2:c.1118G= ENSP00000490344.1:p.Ser373=
ENST00000637915.1:c.1127G= ENSP00000490471.1:p.Ser376=
ENST00000637937.1:n.444G=
ENST00000678991.1:c.*997G= ENSP00000503019.1:n.*997G=
ENST00000236671.6:c.1136G= ENSP00000236671.2:p.Ser379=
ENST00000427721.2:c.471+197G= ENSP00000415840.2:n.471+197G=
ENST00000429746.1:c.467G= ENSP00000402586.1:p.Ser156=
ENST00000433655.5:c.*302G= ENSP00000404902.1:n.*302G=
NM_001909.4:c.1136G= NP_001900.1:p.Ser379=
NM_001909.5:c.1136G= MANE Select NP_001900.1:p.Ser379=