Canonical Allele Identifier: CA1947825268

Gene: CTSD

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753817C= , CM000673.2:g.1753817C=	GRCh38
NC_000011.9:g.1775047C= , CM000673.1:g.1775047C=	GRCh37
NC_000011.8:g.1731623C=	NCBI36
NG_008655.1:g.15176G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1057G= MANE Select	ENSP00000236671.2:p.Asp353=
ENST00000367196.4:c.952G=	ENSP00000356164.4:p.Asp318=
ENST00000427721.3:c.482G=
ENST00000429746.2:c.952G=	ENSP00000402586.2:p.Asp318=
ENST00000433655.6:c.*223G=	ENSP00000404902.1:n.*223G=
ENST00000438213.6:c.1174G=	ENSP00000415036.2:p.Asp392=
ENST00000497544.3:n.765G=
ENST00000636397.1:c.1057G=	ENSP00000489910.1:p.Asp353=
ENST00000636571.1:c.1036G=	ENSP00000490770.1:p.Asp346=
ENST00000636579.1:c.58G=	ENSP00000490489.1:p.Asp20=
ENST00000636615.1:c.1057G=	ENSP00000490014.1:p.Asp353=
ENST00000636843.1:c.1051G=	ENSP00000490897.1:p.Asp351=
ENST00000637158.1:n.655G=
ENST00000637381.2:n.3485G=
ENST00000637387.1:c.1036G=	ENSP00000490598.1:p.Asp346=
ENST00000637815.2:c.1039G=	ENSP00000490344.1:p.Asp347=
ENST00000637915.1:c.1057G=	ENSP00000490471.1:p.Asp353=
ENST00000637937.1:n.365G=
ENST00000678991.1:c.*918G=	ENSP00000503019.1:n.*918G=
ENST00000236671.6:c.1057G=	ENSP00000236671.2:p.Asp353=
ENST00000427721.2:c.457G=	ENSP00000415840.2:p.Asp153=
ENST00000429746.1:c.388G=	ENSP00000402586.1:p.Asp130=
ENST00000433655.5:c.*223G=	ENSP00000404902.1:n.*223G=
ENST00000497544.1:n.765G=
NM_001909.4:c.1057G=	NP_001900.1:p.Asp353=
NM_001909.5:c.1057G= MANE Select	NP_001900.1:p.Asp353=