Canonical Allele Identifier: CA934399206

Gene: CTSD

Linked Data

• dbSNP Id: rs1845751775
• gnomAD v3: 11-1753416-G-A
• gnomAD v4: 11-1753416-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753416G>A , CM000673.2:g.1753416G>A	GRCh38
NC_000011.9:g.1774646G>A , CM000673.1:g.1774646G>A	GRCh37
NC_000011.8:g.1731222G>A	NCBI36
NG_008655.1:g.15577C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.*87C>T MANE Select	ENSP00000236671.2:n.*87C>T
ENST00000367196.4:c.*87C>T	ENSP00000356164.4:n.*87C>T
ENST00000427721.3:c.634+117C>T
ENST00000429746.2:c.*87C>T	ENSP00000402586.2:n.*87C>T
ENST00000433655.6:c.*492C>T	ENSP00000404902.1:n.*492C>T
ENST00000438213.6:c.*87C>T	ENSP00000415036.2:n.*87C>T
ENST00000636397.1:c.1071+387C>T	ENSP00000489910.1:n.1071+387C>T
ENST00000636571.1:c.*87C>T	ENSP00000490770.1:n.*87C>T
ENST00000636579.1:c.72+387C>T	ENSP00000490489.1:n.72+387C>T
ENST00000636615.1:c.1071+387C>T	ENSP00000490014.1:n.1071+387C>T
ENST00000636843.1:c.*87C>T	ENSP00000490897.1:n.*87C>T
ENST00000637158.1:n.924C>T
ENST00000637381.2:n.3754C>T
ENST00000637387.1:c.*87C>T	ENSP00000490598.1:n.*87C>T
ENST00000637815.2:c.*87C>T	ENSP00000490344.1:n.*87C>T
ENST00000637915.1:c.*87C>T	ENSP00000490471.1:n.*87C>T
ENST00000637937.1:n.634C>T
ENST00000678991.1:c.*1187C>T	ENSP00000503019.1:n.*1187C>T
ENST00000236671.6:c.*87C>T	ENSP00000236671.2:n.*87C>T
ENST00000427721.2:c.471+387C>T	ENSP00000415840.2:n.471+387C>T
ENST00000429746.1:c.657C>T	ENSP00000402586.1:n.657C>T
ENST00000433655.5:c.*492C>T	ENSP00000404902.1:n.*492C>T
NM_001909.4:c.*87C>T	NP_001900.1:n.*87C>T
NM_001909.5:c.*87C>T MANE Select	NP_001900.1:n.*87C>T