Canonical Allele Identifier: CA472139717

Gene: CTSD

Linked Data

• ClinVar Variation Id: 2818599
• ClinVar RCV Id: RCV003648236
• MyVariant Identifiers: chr11:g.1774778G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753548G>A , CM000673.2:g.1753548G>A	GRCh38
NC_000011.9:g.1774778G>A , CM000673.1:g.1774778G>A	GRCh37
NC_000011.8:g.1731354G>A	NCBI36
NG_008655.1:g.15445C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.1194C>T MANE Select	ENSP00000236671.2:p.Asp398=
ENST00000367196.4:c.1089C>T	ENSP00000356164.4:p.Asp363=
ENST00000427721.3:c.619C>T
ENST00000429746.2:c.1089C>T	ENSP00000402586.2:p.Asp363=
ENST00000433655.6:c.*360C>T	ENSP00000404902.1:n.*360C>T
ENST00000438213.6:c.1311C>T	ENSP00000415036.2:p.Asp437=
ENST00000636397.1:c.1071+255C>T	ENSP00000489910.1:n.1071+255C>T
ENST00000636571.1:c.1173C>T	ENSP00000490770.1:p.Asp391=
ENST00000636579.1:c.72+255C>T	ENSP00000490489.1:n.72+255C>T
ENST00000636615.1:c.1071+255C>T	ENSP00000490014.1:n.1071+255C>T
ENST00000636843.1:c.1188C>T	ENSP00000490897.1:p.Asp396=
ENST00000637158.1:n.792C>T
ENST00000637381.2:n.3622C>T
ENST00000637387.1:c.1173C>T	ENSP00000490598.1:p.Asp391=
ENST00000637815.2:c.1176C>T	ENSP00000490344.1:p.Asp392=
ENST00000637915.1:c.1185C>T	ENSP00000490471.1:p.Asp395=
ENST00000637937.1:n.502C>T
ENST00000678991.1:c.*1055C>T	ENSP00000503019.1:n.*1055C>T
ENST00000236671.6:c.1194C>T	ENSP00000236671.2:p.Asp398=
ENST00000427721.2:c.471+255C>T	ENSP00000415840.2:n.471+255C>T
ENST00000429746.1:c.525C>T	ENSP00000402586.1:p.Asp175=
ENST00000433655.5:c.*360C>T	ENSP00000404902.1:n.*360C>T
NM_001909.4:c.1194C>T	NP_001900.1:p.Asp398=
NM_001909.5:c.1194C>T MANE Select	NP_001900.1:p.Asp398=