Canonical Allele Identifier: CA934399314

Gene: CTSD

Linked Data

• dbSNP Id: rs1845757143
• gnomAD v3: 11-1753709-C-A
• gnomAD v4: 11-1753709-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753709C>A , CM000673.2:g.1753709C>A	GRCh38
NC_000011.9:g.1774939C>A , CM000673.1:g.1774939C>A	GRCh37
NC_000011.8:g.1731515C>A	NCBI36
NG_008655.1:g.15284G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1072-39G>T MANE Select	ENSP00000236671.2:n.1072-39G>T
ENST00000367196.4:c.967-39G>T	ENSP00000356164.4:n.967-39G>T
ENST00000427721.3:c.497-39G>T
ENST00000429746.2:c.967-39G>T	ENSP00000402586.2:n.967-39G>T
ENST00000433655.6:c.*238-39G>T	ENSP00000404902.1:n.*238-39G>T
ENST00000438213.6:c.1189-39G>T	ENSP00000415036.2:n.1189-39G>T
ENST00000497544.3:n.780-39G>T
ENST00000636397.1:c.1071+94G>T	ENSP00000489910.1:n.1071+94G>T
ENST00000636571.1:c.1051-39G>T	ENSP00000490770.1:n.1051-39G>T
ENST00000636579.1:c.72+94G>T	ENSP00000490489.1:n.72+94G>T
ENST00000636615.1:c.1071+94G>T	ENSP00000490014.1:n.1071+94G>T
ENST00000636843.1:c.1066-39G>T	ENSP00000490897.1:n.1066-39G>T
ENST00000637158.1:n.670-39G>T
ENST00000637381.2:n.3500-39G>T
ENST00000637387.1:c.1051-39G>T	ENSP00000490598.1:n.1051-39G>T
ENST00000637815.2:c.1054-39G>T	ENSP00000490344.1:n.1054-39G>T
ENST00000637915.1:c.1072-48G>T	ENSP00000490471.1:n.1072-48G>T
ENST00000637937.1:n.380-39G>T
ENST00000678991.1:c.*933-39G>T	ENSP00000503019.1:n.*933-39G>T
ENST00000236671.6:c.1072-39G>T	ENSP00000236671.2:n.1072-39G>T
ENST00000427721.2:c.471+94G>T	ENSP00000415840.2:n.471+94G>T
ENST00000429746.1:c.403-39G>T	ENSP00000402586.1:n.403-39G>T
ENST00000433655.5:c.*238-39G>T	ENSP00000404902.1:n.*238-39G>T
NM_001909.4:c.1072-39G>T	NP_001900.1:n.1072-39G>T
NM_001909.5:c.1072-39G>T MANE Select	NP_001900.1:n.1072-39G>T