Canonical Allele Identifier: CA5814148

Gene: CTSD

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1757517C>T , CM000673.2:g.1757517C>T	GRCh38
NC_000011.9:g.1778747C>T , CM000673.1:g.1778747C>T	GRCh37
NC_000011.8:g.1735323C>T	NCBI36
NG_008655.1:g.11476G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001909.5:c.511G>A MANE Select	NP_001900.1:p.Gly171Ser
ENST00000236671.7:c.511G>A MANE Select	ENSP00000236671.2:p.Gly171Ser
NM_001909.4:c.511G>A	NP_001900.1:p.Gly171Ser
ENST00000236671.6:c.511G>A	ENSP00000236671.2:p.Gly171Ser
ENST00000367196.3:c.406G>A	ENSP00000356164.3:p.Gly136Ser
ENST00000367196.4:c.406G>A	ENSP00000356164.4:p.Gly136Ser
ENST00000427721.2:c.-90G>A	ENSP00000415840.2:n.-90G>A
ENST00000429746.2:c.406G>A	ENSP00000402586.2:p.Gly136Ser
ENST00000433655.5:c.511G>A	ENSP00000404902.1:p.Gly171Ser
ENST00000433655.6:c.511G>A	ENSP00000404902.1:p.Gly171Ser
ENST00000438213.5:c.466G>A	ENSP00000415036.1:p.Gly156Ser
ENST00000438213.6:c.511G>A	ENSP00000415036.2:p.Gly171Ser
ENST00000636397.1:c.511G>A	ENSP00000489910.1:p.Gly171Ser
ENST00000636571.1:c.490G>A	ENSP00000490770.1:p.Gly164Ser
ENST00000636615.1:c.511G>A	ENSP00000490014.1:p.Gly171Ser
ENST00000636843.1:c.505G>A	ENSP00000490897.1:p.Gly169Ser
ENST00000637158.1:n.109G>A
ENST00000637381.2:n.2939G>A
ENST00000637387.1:c.511G>A	ENSP00000490598.1:p.Gly171Ser
ENST00000637815.2:c.511G>A	ENSP00000490344.1:p.Gly171Ser
ENST00000637915.1:c.511G>A	ENSP00000490471.1:p.Gly171Ser
ENST00000677300.1:n.906G>A
ENST00000678991.1:c.*372G>A	ENSP00000503019.1:n.*372G>A