Canonical Allele Identifier: CA1947825128

Gene: CTSD

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753596G= , CM000673.2:g.1753596G=	GRCh38
NC_000011.9:g.1774826G= , CM000673.1:g.1774826G=	GRCh37
NC_000011.8:g.1731402G=	NCBI36
NG_008655.1:g.15397C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1146C= MANE Select	ENSP00000236671.2:p.Leu382=
ENST00000367196.4:c.1041C=	ENSP00000356164.4:p.Leu347=
ENST00000427721.3:c.571C=
ENST00000429746.2:c.1041C=	ENSP00000402586.2:p.Leu347=
ENST00000433655.6:c.*312C=	ENSP00000404902.1:n.*312C=
ENST00000438213.6:c.1263C=	ENSP00000415036.2:p.Leu421=
ENST00000636397.1:c.1071+207C=	ENSP00000489910.1:n.1071+207C=
ENST00000636571.1:c.1125C=	ENSP00000490770.1:p.Leu375=
ENST00000636579.1:c.72+207C=	ENSP00000490489.1:n.72+207C=
ENST00000636615.1:c.1071+207C=	ENSP00000490014.1:n.1071+207C=
ENST00000636843.1:c.1140C=	ENSP00000490897.1:p.Leu380=
ENST00000637158.1:n.744C=
ENST00000637381.2:n.3574C=
ENST00000637387.1:c.1125C=	ENSP00000490598.1:p.Leu375=
ENST00000637815.2:c.1128C=	ENSP00000490344.1:p.Leu376=
ENST00000637915.1:c.1137C=	ENSP00000490471.1:p.Leu379=
ENST00000637937.1:n.454C=
ENST00000678991.1:c.*1007C=	ENSP00000503019.1:n.*1007C=
ENST00000236671.6:c.1146C=	ENSP00000236671.2:p.Leu382=
ENST00000427721.2:c.471+207C=	ENSP00000415840.2:n.471+207C=
ENST00000429746.1:c.477C=	ENSP00000402586.1:p.Leu159=
ENST00000433655.5:c.*312C=	ENSP00000404902.1:n.*312C=
NM_001909.4:c.1146C=	NP_001900.1:p.Leu382=
NM_001909.5:c.1146C= MANE Select	NP_001900.1:p.Leu382=