Canonical Allele Identifier: CA1947825372

Gene: CTSD

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753996C= , CM000673.2:g.1753996C=	GRCh38
NC_000011.9:g.1775226C= , CM000673.1:g.1775226C=	GRCh37
NC_000011.8:g.1731802C=	NCBI36
NG_008655.1:g.14997G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.970G= MANE Select	ENSP00000236671.2:p.Glu324=
ENST00000367196.4:c.865G=	ENSP00000356164.4:p.Glu289=
ENST00000427721.3:c.395G=
ENST00000429746.2:c.865G=	ENSP00000402586.2:p.Glu289=
ENST00000433655.6:c.*136G=	ENSP00000404902.1:n.*136G=
ENST00000438213.6:c.1087G=	ENSP00000415036.2:p.Glu363=
ENST00000497544.3:n.586G=
ENST00000636397.1:c.970G=	ENSP00000489910.1:p.Glu324=
ENST00000636571.1:c.949G=	ENSP00000490770.1:p.Glu317=
ENST00000636615.1:c.970G=	ENSP00000490014.1:p.Glu324=
ENST00000636843.1:c.964G=	ENSP00000490897.1:p.Glu322=
ENST00000637158.1:n.568G=
ENST00000637381.2:n.3398G=
ENST00000637387.1:c.970G=	ENSP00000490598.1:p.Glu324=
ENST00000637815.2:c.952G=	ENSP00000490344.1:p.Glu318=
ENST00000637915.1:c.970G=	ENSP00000490471.1:p.Glu324=
ENST00000637937.1:n.278G=
ENST00000678991.1:c.*831G=	ENSP00000503019.1:n.*831G=
ENST00000236671.6:c.970G=	ENSP00000236671.2:p.Glu324=
ENST00000427721.2:c.370G=	ENSP00000415840.2:p.Glu124=
ENST00000429746.1:c.301G=	ENSP00000402586.1:p.Glu101=
ENST00000433655.5:c.*136G=	ENSP00000404902.1:n.*136G=
ENST00000497544.1:n.586G=
NM_001909.4:c.970G=	NP_001900.1:p.Glu324=
NM_001909.5:c.970G= MANE Select	NP_001900.1:p.Glu324=