Canonical Allele Identifier: CA674231716

Gene: CTSD

Linked Data

• dbSNP Id: rs1296439510
• gnomAD v3: 11-1753447-C-T
• gnomAD v4: 11-1753447-C-T
• MyVariant Identifiers: chr11:g.1774677C>T (hg19) ; chr11:g.1753447C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753447C>T , CM000673.2:g.1753447C>T	GRCh38
NC_000011.9:g.1774677C>T , CM000673.1:g.1774677C>T	GRCh37
NC_000011.8:g.1731253C>T	NCBI36
NG_008655.1:g.15546G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.*56G>A MANE Select	ENSP00000236671.2:n.*56G>A
ENST00000367196.4:c.*56G>A	ENSP00000356164.4:n.*56G>A
ENST00000427721.3:c.634+86G>A
ENST00000429746.2:c.*56G>A	ENSP00000402586.2:n.*56G>A
ENST00000433655.6:c.*461G>A	ENSP00000404902.1:n.*461G>A
ENST00000438213.6:c.*56G>A	ENSP00000415036.2:n.*56G>A
ENST00000636397.1:c.1071+356G>A	ENSP00000489910.1:n.1071+356G>A
ENST00000636571.1:c.*56G>A	ENSP00000490770.1:n.*56G>A
ENST00000636579.1:c.72+356G>A	ENSP00000490489.1:n.72+356G>A
ENST00000636615.1:c.1071+356G>A	ENSP00000490014.1:n.1071+356G>A
ENST00000636843.1:c.*56G>A	ENSP00000490897.1:n.*56G>A
ENST00000637158.1:n.893G>A
ENST00000637381.2:n.3723G>A
ENST00000637387.1:c.*56G>A	ENSP00000490598.1:n.*56G>A
ENST00000637815.2:c.*56G>A	ENSP00000490344.1:n.*56G>A
ENST00000637915.1:c.*56G>A	ENSP00000490471.1:n.*56G>A
ENST00000637937.1:n.603G>A
ENST00000678991.1:c.*1156G>A	ENSP00000503019.1:n.*1156G>A
ENST00000236671.6:c.*56G>A	ENSP00000236671.2:n.*56G>A
ENST00000427721.2:c.471+356G>A	ENSP00000415840.2:n.471+356G>A
ENST00000429746.1:c.626G>A	ENSP00000402586.1:n.626G>A
ENST00000433655.5:c.*461G>A	ENSP00000404902.1:n.*461G>A
NM_001909.4:c.*56G>A	NP_001900.1:n.*56G>A
NM_001909.5:c.*56G>A MANE Select	NP_001900.1:n.*56G>A