Canonical Allele Identifier: CA379092362

Gene: CTSD

Linked Data

• gnomAD v4: 11-1753534-C-T
• MyVariant Identifiers: chr11:g.1774764C>T (hg19) ; chr11:g.1753534C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753534C>T , CM000673.2:g.1753534C>T	GRCh38
NC_000011.9:g.1774764C>T , CM000673.1:g.1774764C>T	GRCh37
NC_000011.8:g.1731340C>T	NCBI36
NG_008655.1:g.15459G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1208G>A MANE Select	ENSP00000236671.2:p.Arg403Lys
ENST00000367196.4:c.1103G>A	ENSP00000356164.4:p.Arg368Lys
ENST00000427721.3:c.633G>A
ENST00000429746.2:c.1103G>A	ENSP00000402586.2:p.Arg368Lys
ENST00000433655.6:c.*374G>A	ENSP00000404902.1:n.*374G>A
ENST00000438213.6:c.1325G>A	ENSP00000415036.2:p.Arg442Lys
ENST00000636397.1:c.1071+269G>A	ENSP00000489910.1:n.1071+269G>A
ENST00000636571.1:c.1187G>A	ENSP00000490770.1:p.Arg396Lys
ENST00000636579.1:c.72+269G>A	ENSP00000490489.1:n.72+269G>A
ENST00000636615.1:c.1071+269G>A	ENSP00000490014.1:n.1071+269G>A
ENST00000636843.1:c.1202G>A	ENSP00000490897.1:p.Arg401Lys
ENST00000637158.1:n.806G>A
ENST00000637381.2:n.3636G>A
ENST00000637387.1:c.1187G>A	ENSP00000490598.1:p.Arg396Lys
ENST00000637815.2:c.1190G>A	ENSP00000490344.1:p.Arg397Lys
ENST00000637915.1:c.1199G>A	ENSP00000490471.1:p.Arg400Lys
ENST00000637937.1:n.516G>A
ENST00000678991.1:c.*1069G>A	ENSP00000503019.1:n.*1069G>A
ENST00000236671.6:c.1208G>A	ENSP00000236671.2:p.Arg403Lys
ENST00000427721.2:c.471+269G>A	ENSP00000415840.2:n.471+269G>A
ENST00000429746.1:c.539G>A	ENSP00000402586.1:p.Arg180Lys
ENST00000433655.5:c.*374G>A	ENSP00000404902.1:n.*374G>A
NM_001909.4:c.1208G>A	NP_001900.1:p.Arg403Lys
NM_001909.5:c.1208G>A MANE Select	NP_001900.1:p.Arg403Lys