Canonical Allele Identifier: CA1947825379

Gene: CTSD

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1754013A= , CM000673.2:g.1754013A=	GRCh38
NC_000011.9:g.1775243A= , CM000673.1:g.1775243A=	GRCh37
NC_000011.8:g.1731819A=	NCBI36
NG_008655.1:g.14980T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.953T= MANE Select	ENSP00000236671.2:p.Val318=
ENST00000367196.4:c.848T=	ENSP00000356164.4:p.Val283=
ENST00000427721.3:c.378T=
ENST00000429746.2:c.848T=	ENSP00000402586.2:p.Val283=
ENST00000433655.6:c.*119T=	ENSP00000404902.1:n.*119T=
ENST00000438213.6:c.1070T=	ENSP00000415036.2:p.Val357=
ENST00000497544.3:n.569T=
ENST00000636397.1:c.953T=	ENSP00000489910.1:p.Val318=
ENST00000636571.1:c.932T=	ENSP00000490770.1:p.Val311=
ENST00000636615.1:c.953T=	ENSP00000490014.1:p.Val318=
ENST00000636843.1:c.947T=	ENSP00000490897.1:p.Val316=
ENST00000637158.1:n.551T=
ENST00000637381.2:n.3381T=
ENST00000637387.1:c.953T=	ENSP00000490598.1:p.Val318=
ENST00000637815.2:c.935T=	ENSP00000490344.1:p.Val312=
ENST00000637915.1:c.953T=	ENSP00000490471.1:p.Val318=
ENST00000637937.1:n.261T=
ENST00000678991.1:c.*814T=	ENSP00000503019.1:n.*814T=
ENST00000236671.6:c.953T=	ENSP00000236671.2:p.Val318=
ENST00000427721.2:c.353T=	ENSP00000415840.2:p.Val118=
ENST00000429746.1:c.284T=	ENSP00000402586.1:p.Val95=
ENST00000433655.5:c.*119T=	ENSP00000404902.1:n.*119T=
ENST00000497544.1:n.569T=
NM_001909.4:c.953T=	NP_001900.1:p.Val318=
NM_001909.5:c.953T= MANE Select	NP_001900.1:p.Val318=