Canonical Allele Identifier: CA379095900

Gene: CTSD

Linked Data

• gnomAD v4: 11-1757363-T-A
• MyVariant Identifiers: chr11:g.1778593T>A (hg19) ; chr11:g.1757363T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1757363T>A , CM000673.2:g.1757363T>A	GRCh38
NC_000011.9:g.1778593T>A , CM000673.1:g.1778593T>A	GRCh37
NC_000011.8:g.1735169T>A	NCBI36
NG_008655.1:g.11630A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.665A>T MANE Select	ENSP00000236671.2:p.Lys222Met
ENST00000367196.4:c.560A>T	ENSP00000356164.4:p.Lys187Met
ENST00000427721.3:c.90A>T
ENST00000429746.2:c.560A>T	ENSP00000402586.2:p.Lys187Met
ENST00000433655.6:c.665A>T	ENSP00000404902.1:p.Lys222Met
ENST00000438213.6:c.665A>T	ENSP00000415036.2:p.Lys222Met
ENST00000636397.1:c.665A>T	ENSP00000489910.1:p.Lys222Met
ENST00000636571.1:c.644A>T	ENSP00000490770.1:p.Lys215Met
ENST00000636615.1:c.665A>T	ENSP00000490014.1:p.Lys222Met
ENST00000636843.1:c.659A>T	ENSP00000490897.1:p.Lys220Met
ENST00000637158.1:n.263A>T
ENST00000637381.2:n.3093A>T
ENST00000637387.1:c.665A>T	ENSP00000490598.1:p.Lys222Met
ENST00000637815.2:c.665A>T	ENSP00000490344.1:p.Lys222Met
ENST00000637915.1:c.665A>T	ENSP00000490471.1:p.Lys222Met
ENST00000677300.1:n.1060A>T
ENST00000678991.1:c.*526A>T	ENSP00000503019.1:n.*526A>T
ENST00000236671.6:c.665A>T	ENSP00000236671.2:p.Lys222Met
ENST00000367196.3:c.560A>T	ENSP00000356164.3:p.Lys187Met
ENST00000427721.2:c.65A>T	ENSP00000415840.2:p.Lys22Met
ENST00000433655.5:c.665A>T	ENSP00000404902.1:p.Lys222Met
ENST00000438213.5:c.620A>T	ENSP00000415036.1:p.Lys207Met
NM_001909.4:c.665A>T	NP_001900.1:p.Lys222Met
NM_001909.5:c.665A>T MANE Select	NP_001900.1:p.Lys222Met