Canonical Allele Identifier: CA1947825274

Gene: CTSD

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753829G= , CM000673.2:g.1753829G=	GRCh38
NC_000011.9:g.1775059G= , CM000673.1:g.1775059G=	GRCh37
NC_000011.8:g.1731635G=	NCBI36
NG_008655.1:g.15164C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1045C= MANE Select	ENSP00000236671.2:p.Leu349=
ENST00000367196.4:c.940C=	ENSP00000356164.4:p.Leu314=
ENST00000427721.3:c.470C=
ENST00000429746.2:c.940C=	ENSP00000402586.2:p.Leu314=
ENST00000433655.6:c.*211C=	ENSP00000404902.1:n.*211C=
ENST00000438213.6:c.1162C=	ENSP00000415036.2:p.Leu388=
ENST00000497544.3:n.753C=
ENST00000636397.1:c.1045C=	ENSP00000489910.1:p.Leu349=
ENST00000636571.1:c.1024C=	ENSP00000490770.1:p.Leu342=
ENST00000636579.1:c.46C=	ENSP00000490489.1:p.Leu16=
ENST00000636615.1:c.1045C=	ENSP00000490014.1:p.Leu349=
ENST00000636843.1:c.1039C=	ENSP00000490897.1:p.Leu347=
ENST00000637158.1:n.643C=
ENST00000637381.2:n.3473C=
ENST00000637387.1:c.1024C=	ENSP00000490598.1:p.Leu342=
ENST00000637815.2:c.1027C=	ENSP00000490344.1:p.Leu343=
ENST00000637915.1:c.1045C=	ENSP00000490471.1:p.Leu349=
ENST00000637937.1:n.353C=
ENST00000678991.1:c.*906C=	ENSP00000503019.1:n.*906C=
ENST00000236671.6:c.1045C=	ENSP00000236671.2:p.Leu349=
ENST00000427721.2:c.445C=	ENSP00000415840.2:p.Leu149=
ENST00000429746.1:c.376C=	ENSP00000402586.1:p.Leu126=
ENST00000433655.5:c.*211C=	ENSP00000404902.1:n.*211C=
ENST00000497544.1:n.753C=
NM_001909.4:c.1045C=	NP_001900.1:p.Leu349=
NM_001909.5:c.1045C= MANE Select	NP_001900.1:p.Leu349=