Canonical Allele Identifier: CA5814129

Gene: CTSD

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1757414C>T , CM000673.2:g.1757414C>T	GRCh38
NC_000011.9:g.1778644C>T , CM000673.1:g.1778644C>T	GRCh37
NC_000011.8:g.1735220C>T	NCBI36
NG_008655.1:g.11579G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001909.5:c.614G>A MANE Select	NP_001900.1:p.Arg205His
ENST00000236671.7:c.614G>A MANE Select	ENSP00000236671.2:p.Arg205His
NM_001909.4:c.614G>A	NP_001900.1:p.Arg205His
ENST00000236671.6:c.614G>A	ENSP00000236671.2:p.Arg205His
ENST00000367196.3:c.509G>A	ENSP00000356164.3:p.Arg170His
ENST00000367196.4:c.509G>A	ENSP00000356164.4:p.Arg170His
ENST00000427721.2:c.14G>A	ENSP00000415840.2:p.Arg5His
ENST00000427721.3:c.39G>A
ENST00000429746.2:c.509G>A	ENSP00000402586.2:p.Arg170His
ENST00000433655.5:c.614G>A	ENSP00000404902.1:p.Arg205His
ENST00000433655.6:c.614G>A	ENSP00000404902.1:p.Arg205His
ENST00000438213.5:c.569G>A	ENSP00000415036.1:p.Arg190His
ENST00000438213.6:c.614G>A	ENSP00000415036.2:p.Arg205His
ENST00000636397.1:c.614G>A	ENSP00000489910.1:p.Arg205His
ENST00000636571.1:c.593G>A	ENSP00000490770.1:p.Arg198His
ENST00000636615.1:c.614G>A	ENSP00000490014.1:p.Arg205His
ENST00000636843.1:c.608G>A	ENSP00000490897.1:p.Arg203His
ENST00000637158.1:n.212G>A
ENST00000637381.2:n.3042G>A
ENST00000637387.1:c.614G>A	ENSP00000490598.1:p.Arg205His
ENST00000637815.2:c.614G>A	ENSP00000490344.1:p.Arg205His
ENST00000637915.1:c.614G>A	ENSP00000490471.1:p.Arg205His
ENST00000677300.1:n.1009G>A
ENST00000678991.1:c.*475G>A	ENSP00000503019.1:n.*475G>A