Canonical Allele Identifier: CA379093362

Gene: CTSD

Linked Data

• gnomAD v4: 11-1753888-C-T
• MyVariant Identifiers: chr11:g.1775118C>T (hg19) ; chr11:g.1753888C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753888C>T , CM000673.2:g.1753888C>T	GRCh38
NC_000011.9:g.1775118C>T , CM000673.1:g.1775118C>T	GRCh37
NC_000011.8:g.1731694C>T	NCBI36
NG_008655.1:g.15105G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.986G>A MANE Select	ENSP00000236671.2:p.Cys329Tyr
ENST00000367196.4:c.881G>A	ENSP00000356164.4:p.Cys294Tyr
ENST00000427721.3:c.411G>A
ENST00000429746.2:c.881G>A	ENSP00000402586.2:p.Cys294Tyr
ENST00000433655.6:c.*152G>A	ENSP00000404902.1:n.*152G>A
ENST00000438213.6:c.1103G>A	ENSP00000415036.2:p.Cys368Tyr
ENST00000497544.3:n.694G>A
ENST00000636397.1:c.986G>A	ENSP00000489910.1:p.Cys329Tyr
ENST00000636571.1:c.965G>A	ENSP00000490770.1:p.Cys322Tyr
ENST00000636615.1:c.986G>A	ENSP00000490014.1:p.Cys329Tyr
ENST00000636843.1:c.980G>A	ENSP00000490897.1:p.Cys327Tyr
ENST00000637158.1:n.584G>A
ENST00000637381.2:n.3414G>A
ENST00000637387.1:c.973-8G>A	ENSP00000490598.1:n.973-8G>A
ENST00000637815.2:c.968G>A	ENSP00000490344.1:p.Cys323Tyr
ENST00000637915.1:c.986G>A	ENSP00000490471.1:p.Cys329Tyr
ENST00000637937.1:n.294G>A
ENST00000678991.1:c.*847G>A	ENSP00000503019.1:n.*847G>A
ENST00000236671.6:c.986G>A	ENSP00000236671.2:p.Cys329Tyr
ENST00000427721.2:c.386G>A	ENSP00000415840.2:p.Cys129Tyr
ENST00000429746.1:c.317G>A	ENSP00000402586.1:p.Cys106Tyr
ENST00000433655.5:c.*152G>A	ENSP00000404902.1:n.*152G>A
ENST00000497544.1:n.694G>A
NM_001909.4:c.986G>A	NP_001900.1:p.Cys329Tyr
NM_001909.5:c.986G>A MANE Select	NP_001900.1:p.Cys329Tyr