Canonical Allele Identifier: CA471988375

Gene: CTSD

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1759553G>T , CM000673.2:g.1759553G>T	GRCh38
NC_000011.9:g.1780783G>T , CM000673.1:g.1780783G>T	GRCh37
NC_000011.8:g.1737359G>T	NCBI36
NG_008655.1:g.9440C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001909.5:c.315C>A MANE Select	NP_001900.1:p.Val105=
ENST00000236671.7:c.315C>A MANE Select	ENSP00000236671.2:p.Val105=
NM_001909.4:c.315C>A	NP_001900.1:p.Val105=
ENST00000236671.6:c.315C>A	ENSP00000236671.2:p.Val105=
ENST00000367196.3:c.210C>A	ENSP00000356164.3:p.Val70=
ENST00000367196.4:c.210C>A	ENSP00000356164.4:p.Val70=
ENST00000429746.2:c.210C>A	ENSP00000402586.2:p.Val70=
ENST00000433655.5:c.315C>A	ENSP00000404902.1:p.Val105=
ENST00000433655.6:c.315C>A	ENSP00000404902.1:p.Val105=
ENST00000438213.5:c.270C>A	ENSP00000415036.1:p.Val90=
ENST00000438213.6:c.315C>A	ENSP00000415036.2:p.Val105=
ENST00000636397.1:c.315C>A	ENSP00000489910.1:p.Val105=
ENST00000636571.1:c.294C>A	ENSP00000490770.1:p.Val98=
ENST00000636615.1:c.315C>A	ENSP00000490014.1:p.Val105=
ENST00000636843.1:c.309C>A	ENSP00000490897.1:p.Val103=
ENST00000637381.2:n.2743C>A
ENST00000637387.1:c.315C>A	ENSP00000490598.1:p.Val105=
ENST00000637815.2:c.315C>A	ENSP00000490344.1:p.Val105=
ENST00000637915.1:c.315C>A	ENSP00000490471.1:p.Val105=
ENST00000677300.1:n.710C>A
ENST00000678991.1:c.*176C>A	ENSP00000503019.1:n.*176C>A