Canonical Allele Identifier: CA379098441
Gene: CTSD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1759596C>A , CM000673.2:g.1759596C>A GRCh38
NC_000011.9:g.1780826C>A , CM000673.1:g.1780826C>A GRCh37
NC_000011.8:g.1737402C>A NCBI36
NG_008655.1:g.9397G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000236671.7:c.272G>T MANE Select ENSP00000236671.2:p.Cys91Phe
ENST00000367196.4:c.167G>T ENSP00000356164.4:p.Cys56Phe
ENST00000429746.2:c.167G>T ENSP00000402586.2:p.Cys56Phe
ENST00000433655.6:c.272G>T ENSP00000404902.1:p.Cys91Phe
ENST00000438213.6:c.272G>T ENSP00000415036.2:p.Cys91Phe
ENST00000636397.1:c.272G>T ENSP00000489910.1:p.Cys91Phe
ENST00000636571.1:c.251G>T ENSP00000490770.1:p.Cys84Phe
ENST00000636615.1:c.272G>T ENSP00000490014.1:p.Cys91Phe
ENST00000636843.1:c.266G>T ENSP00000490897.1:p.Cys89Phe
ENST00000637381.2:n.2700G>T
ENST00000637387.1:c.272G>T ENSP00000490598.1:p.Cys91Phe
ENST00000637815.2:c.272G>T ENSP00000490344.1:p.Cys91Phe
ENST00000637915.1:c.272G>T ENSP00000490471.1:p.Cys91Phe
ENST00000677300.1:n.667G>T
ENST00000678991.1:c.*133G>T ENSP00000503019.1:n.*133G>T
ENST00000236671.6:c.272G>T ENSP00000236671.2:p.Cys91Phe
ENST00000367196.3:c.167G>T ENSP00000356164.3:p.Cys56Phe
ENST00000433655.5:c.272G>T ENSP00000404902.1:p.Cys91Phe
ENST00000438213.5:c.227G>T ENSP00000415036.1:p.Cys76Phe
NM_001909.4:c.272G>T NP_001900.1:p.Cys91Phe
NM_001909.5:c.272G>T MANE Select NP_001900.1:p.Cys91Phe