Canonical Allele Identifier: CA379093146
Gene: CTSD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1753837C>T , CM000673.2:g.1753837C>T GRCh38
NC_000011.9:g.1775067C>T , CM000673.1:g.1775067C>T GRCh37
NC_000011.8:g.1731643C>T NCBI36
NG_008655.1:g.15156G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000236671.7:c.1037G>A MANE Select ENSP00000236671.2:p.Gly346Asp
ENST00000367196.4:c.932G>A ENSP00000356164.4:p.Gly311Asp
ENST00000427721.3:c.462G>A
ENST00000429746.2:c.932G>A ENSP00000402586.2:p.Gly311Asp
ENST00000433655.6:c.*203G>A ENSP00000404902.1:n.*203G>A
ENST00000438213.6:c.1154G>A ENSP00000415036.2:p.Gly385Asp
ENST00000497544.3:n.745G>A
ENST00000636397.1:c.1037G>A ENSP00000489910.1:p.Gly346Asp
ENST00000636571.1:c.1016G>A ENSP00000490770.1:p.Gly339Asp
ENST00000636579.1:c.38G>A ENSP00000490489.1:p.Gly13Asp
ENST00000636615.1:c.1037G>A ENSP00000490014.1:p.Gly346Asp
ENST00000636843.1:c.1031G>A ENSP00000490897.1:p.Gly344Asp
ENST00000637158.1:n.635G>A
ENST00000637381.2:n.3465G>A
ENST00000637387.1:c.1016G>A ENSP00000490598.1:p.Gly339Asp
ENST00000637815.2:c.1019G>A ENSP00000490344.1:p.Gly340Asp
ENST00000637915.1:c.1037G>A ENSP00000490471.1:p.Gly346Asp
ENST00000637937.1:n.345G>A
ENST00000678991.1:c.*898G>A ENSP00000503019.1:n.*898G>A
ENST00000236671.6:c.1037G>A ENSP00000236671.2:p.Gly346Asp
ENST00000427721.2:c.437G>A ENSP00000415840.2:p.Gly146Asp
ENST00000429746.1:c.368G>A ENSP00000402586.1:p.Gly123Asp
ENST00000433655.5:c.*203G>A ENSP00000404902.1:n.*203G>A
ENST00000497544.1:n.745G>A
NM_001909.4:c.1037G>A NP_001900.1:p.Gly346Asp
NM_001909.5:c.1037G>A MANE Select NP_001900.1:p.Gly346Asp