Canonical Allele Identifier: CA379093153
Gene: CTSD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1753838C>T , CM000673.2:g.1753838C>T GRCh38
NC_000011.9:g.1775068C>T , CM000673.1:g.1775068C>T GRCh37
NC_000011.8:g.1731644C>T NCBI36
NG_008655.1:g.15155G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000236671.7:c.1036G>A MANE Select ENSP00000236671.2:p.Gly346Ser
ENST00000367196.4:c.931G>A ENSP00000356164.4:p.Gly311Ser
ENST00000427721.3:c.461G>A
ENST00000429746.2:c.931G>A ENSP00000402586.2:p.Gly311Ser
ENST00000433655.6:c.*202G>A ENSP00000404902.1:n.*202G>A
ENST00000438213.6:c.1153G>A ENSP00000415036.2:p.Gly385Ser
ENST00000497544.3:n.744G>A
ENST00000636397.1:c.1036G>A ENSP00000489910.1:p.Gly346Ser
ENST00000636571.1:c.1015G>A ENSP00000490770.1:p.Gly339Ser
ENST00000636579.1:c.37G>A ENSP00000490489.1:p.Gly13Ser
ENST00000636615.1:c.1036G>A ENSP00000490014.1:p.Gly346Ser
ENST00000636843.1:c.1030G>A ENSP00000490897.1:p.Gly344Ser
ENST00000637158.1:n.634G>A
ENST00000637381.2:n.3464G>A
ENST00000637387.1:c.1015G>A ENSP00000490598.1:p.Gly339Ser
ENST00000637815.2:c.1018G>A ENSP00000490344.1:p.Gly340Ser
ENST00000637915.1:c.1036G>A ENSP00000490471.1:p.Gly346Ser
ENST00000637937.1:n.344G>A
ENST00000678991.1:c.*897G>A ENSP00000503019.1:n.*897G>A
ENST00000236671.6:c.1036G>A ENSP00000236671.2:p.Gly346Ser
ENST00000427721.2:c.436G>A ENSP00000415840.2:p.Gly146Ser
ENST00000429746.1:c.367G>A ENSP00000402586.1:p.Gly123Ser
ENST00000433655.5:c.*202G>A ENSP00000404902.1:n.*202G>A
ENST00000497544.1:n.744G>A
NM_001909.4:c.1036G>A NP_001900.1:p.Gly346Ser
NM_001909.5:c.1036G>A MANE Select NP_001900.1:p.Gly346Ser