Canonical Allele Identifier: CA379095971
Gene: CTSD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1757394G>T , CM000673.2:g.1757394G>T GRCh38
NC_000011.9:g.1778624G>T , CM000673.1:g.1778624G>T GRCh37
NC_000011.8:g.1735200G>T NCBI36
NG_008655.1:g.11599C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000236671.7:c.634C>A MANE Select ENSP00000236671.2:p.Leu212Met
ENST00000367196.4:c.529C>A ENSP00000356164.4:p.Leu177Met
ENST00000427721.3:c.59C>A
ENST00000429746.2:c.529C>A ENSP00000402586.2:p.Leu177Met
ENST00000433655.6:c.634C>A ENSP00000404902.1:p.Leu212Met
ENST00000438213.6:c.634C>A ENSP00000415036.2:p.Leu212Met
ENST00000636397.1:c.634C>A ENSP00000489910.1:p.Leu212Met
ENST00000636571.1:c.613C>A ENSP00000490770.1:p.Leu205Met
ENST00000636615.1:c.634C>A ENSP00000490014.1:p.Leu212Met
ENST00000636843.1:c.628C>A ENSP00000490897.1:p.Leu210Met
ENST00000637158.1:n.232C>A
ENST00000637381.2:n.3062C>A
ENST00000637387.1:c.634C>A ENSP00000490598.1:p.Leu212Met
ENST00000637815.2:c.634C>A ENSP00000490344.1:p.Leu212Met
ENST00000637915.1:c.634C>A ENSP00000490471.1:p.Leu212Met
ENST00000677300.1:n.1029C>A
ENST00000678991.1:c.*495C>A ENSP00000503019.1:n.*495C>A
ENST00000236671.6:c.634C>A ENSP00000236671.2:p.Leu212Met
ENST00000367196.3:c.529C>A ENSP00000356164.3:p.Leu177Met
ENST00000427721.2:c.34C>A ENSP00000415840.2:p.Leu12Met
ENST00000433655.5:c.634C>A ENSP00000404902.1:p.Leu212Met
ENST00000438213.5:c.589C>A ENSP00000415036.1:p.Leu197Met
NM_001909.4:c.634C>A NP_001900.1:p.Leu212Met
NM_001909.5:c.634C>A MANE Select NP_001900.1:p.Leu212Met