Canonical Allele Identifier: CA1947825122

Gene: CTSD

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753580C= , CM000673.2:g.1753580C=	GRCh38
NC_000011.9:g.1774810C= , CM000673.1:g.1774810C=	GRCh37
NC_000011.8:g.1731386C=	NCBI36
NG_008655.1:g.15413G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1162G= MANE Select	ENSP00000236671.2:p.Val388=
ENST00000367196.4:c.1057G=	ENSP00000356164.4:p.Val353=
ENST00000427721.3:c.587G=
ENST00000429746.2:c.1057G=	ENSP00000402586.2:p.Val353=
ENST00000433655.6:c.*328G=	ENSP00000404902.1:n.*328G=
ENST00000438213.6:c.1279G=	ENSP00000415036.2:p.Val427=
ENST00000636397.1:c.1071+223G=	ENSP00000489910.1:n.1071+223G=
ENST00000636571.1:c.1141G=	ENSP00000490770.1:p.Val381=
ENST00000636579.1:c.72+223G=	ENSP00000490489.1:n.72+223G=
ENST00000636615.1:c.1071+223G=	ENSP00000490014.1:n.1071+223G=
ENST00000636843.1:c.1156G=	ENSP00000490897.1:p.Val386=
ENST00000637158.1:n.760G=
ENST00000637381.2:n.3590G=
ENST00000637387.1:c.1141G=	ENSP00000490598.1:p.Val381=
ENST00000637815.2:c.1144G=	ENSP00000490344.1:p.Val382=
ENST00000637915.1:c.1153G=	ENSP00000490471.1:p.Val385=
ENST00000637937.1:n.470G=
ENST00000678991.1:c.*1023G=	ENSP00000503019.1:n.*1023G=
ENST00000236671.6:c.1162G=	ENSP00000236671.2:p.Val388=
ENST00000427721.2:c.471+223G=	ENSP00000415840.2:n.471+223G=
ENST00000429746.1:c.493G=	ENSP00000402586.1:p.Val165=
ENST00000433655.5:c.*328G=	ENSP00000404902.1:n.*328G=
NM_001909.4:c.1162G=	NP_001900.1:p.Val388=
NM_001909.5:c.1162G= MANE Select	NP_001900.1:p.Val388=