Canonical Allele Identifier: CA472140532

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1774838G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753608G>T , CM000673.2:g.1753608G>T	GRCh38
NC_000011.9:g.1774838G>T , CM000673.1:g.1774838G>T	GRCh37
NC_000011.8:g.1731414G>T	NCBI36
NG_008655.1:g.15385C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1134C>A MANE Select	ENSP00000236671.2:p.Pro378=
ENST00000367196.4:c.1029C>A	ENSP00000356164.4:p.Pro343=
ENST00000427721.3:c.559C>A
ENST00000429746.2:c.1029C>A	ENSP00000402586.2:p.Pro343=
ENST00000433655.6:c.*300C>A	ENSP00000404902.1:n.*300C>A
ENST00000438213.6:c.1251C>A	ENSP00000415036.2:p.Pro417=
ENST00000636397.1:c.1071+195C>A	ENSP00000489910.1:n.1071+195C>A
ENST00000636571.1:c.1113C>A	ENSP00000490770.1:p.Pro371=
ENST00000636579.1:c.72+195C>A	ENSP00000490489.1:n.72+195C>A
ENST00000636615.1:c.1071+195C>A	ENSP00000490014.1:n.1071+195C>A
ENST00000636843.1:c.1128C>A	ENSP00000490897.1:p.Pro376=
ENST00000637158.1:n.732C>A
ENST00000637381.2:n.3562C>A
ENST00000637387.1:c.1113C>A	ENSP00000490598.1:p.Pro371=
ENST00000637815.2:c.1116C>A	ENSP00000490344.1:p.Pro372=
ENST00000637915.1:c.1125C>A	ENSP00000490471.1:p.Pro375=
ENST00000637937.1:n.442C>A
ENST00000678991.1:c.*995C>A	ENSP00000503019.1:n.*995C>A
ENST00000236671.6:c.1134C>A	ENSP00000236671.2:p.Pro378=
ENST00000427721.2:c.471+195C>A	ENSP00000415840.2:n.471+195C>A
ENST00000429746.1:c.465C>A	ENSP00000402586.1:p.Pro155=
ENST00000433655.5:c.*300C>A	ENSP00000404902.1:n.*300C>A
NM_001909.4:c.1134C>A	NP_001900.1:p.Pro378=
NM_001909.5:c.1134C>A MANE Select	NP_001900.1:p.Pro378=