Canonical Allele Identifier: CA379098249

Gene: CTSD

Linked Data

• gnomAD v4: 11-1759556-C-A
• MyVariant Identifiers: chr11:g.1780786C>A (hg19) ; chr11:g.1759556C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1759556C>A , CM000673.2:g.1759556C>A	GRCh38
NC_000011.9:g.1780786C>A , CM000673.1:g.1780786C>A	GRCh37
NC_000011.8:g.1737362C>A	NCBI36
NG_008655.1:g.9437G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.312G>T MANE Select	ENSP00000236671.2:p.Trp104Cys
ENST00000367196.4:c.207G>T	ENSP00000356164.4:p.Trp69Cys
ENST00000429746.2:c.207G>T	ENSP00000402586.2:p.Trp69Cys
ENST00000433655.6:c.312G>T	ENSP00000404902.1:p.Trp104Cys
ENST00000438213.6:c.312G>T	ENSP00000415036.2:p.Trp104Cys
ENST00000636397.1:c.312G>T	ENSP00000489910.1:p.Trp104Cys
ENST00000636571.1:c.291G>T	ENSP00000490770.1:p.Trp97Cys
ENST00000636615.1:c.312G>T	ENSP00000490014.1:p.Trp104Cys
ENST00000636843.1:c.306G>T	ENSP00000490897.1:p.Trp102Cys
ENST00000637381.2:n.2740G>T
ENST00000637387.1:c.312G>T	ENSP00000490598.1:p.Trp104Cys
ENST00000637815.2:c.312G>T	ENSP00000490344.1:p.Trp104Cys
ENST00000637915.1:c.312G>T	ENSP00000490471.1:p.Trp104Cys
ENST00000677300.1:n.707G>T
ENST00000678991.1:c.*173G>T	ENSP00000503019.1:n.*173G>T
ENST00000236671.6:c.312G>T	ENSP00000236671.2:p.Trp104Cys
ENST00000367196.3:c.207G>T	ENSP00000356164.3:p.Trp69Cys
ENST00000433655.5:c.312G>T	ENSP00000404902.1:p.Trp104Cys
ENST00000438213.5:c.267G>T	ENSP00000415036.1:p.Trp89Cys
NM_001909.4:c.312G>T	NP_001900.1:p.Trp104Cys
NM_001909.5:c.312G>T MANE Select	NP_001900.1:p.Trp104Cys