Canonical Allele Identifier: CA1947827594

Gene: CTSD

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1757394G= , CM000673.2:g.1757394G=	GRCh38
NC_000011.9:g.1778624G= , CM000673.1:g.1778624G=	GRCh37
NC_000011.8:g.1735200G=	NCBI36
NG_008655.1:g.11599C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.634C= MANE Select	ENSP00000236671.2:p.Leu212=
ENST00000367196.4:c.529C=	ENSP00000356164.4:p.Leu177=
ENST00000427721.3:c.59C=
ENST00000429746.2:c.529C=	ENSP00000402586.2:p.Leu177=
ENST00000433655.6:c.634C=	ENSP00000404902.1:p.Leu212=
ENST00000438213.6:c.634C=	ENSP00000415036.2:p.Leu212=
ENST00000636397.1:c.634C=	ENSP00000489910.1:p.Leu212=
ENST00000636571.1:c.613C=	ENSP00000490770.1:p.Leu205=
ENST00000636615.1:c.634C=	ENSP00000490014.1:p.Leu212=
ENST00000636843.1:c.628C=	ENSP00000490897.1:p.Leu210=
ENST00000637158.1:n.232C=
ENST00000637381.2:n.3062C=
ENST00000637387.1:c.634C=	ENSP00000490598.1:p.Leu212=
ENST00000637815.2:c.634C=	ENSP00000490344.1:p.Leu212=
ENST00000637915.1:c.634C=	ENSP00000490471.1:p.Leu212=
ENST00000677300.1:n.1029C=
ENST00000678991.1:c.*495C=	ENSP00000503019.1:n.*495C=
ENST00000236671.6:c.634C=	ENSP00000236671.2:p.Leu212=
ENST00000367196.3:c.529C=	ENSP00000356164.3:p.Leu177=
ENST00000427721.2:c.34C=	ENSP00000415840.2:p.Leu12=
ENST00000433655.5:c.634C=	ENSP00000404902.1:p.Leu212=
ENST00000438213.5:c.589C=	ENSP00000415036.1:p.Leu197=
NM_001909.4:c.634C=	NP_001900.1:p.Leu212=
NM_001909.5:c.634C= MANE Select	NP_001900.1:p.Leu212=