Canonical Allele Identifier: CA2838592447

Gene: CTSD

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753432C>A , CM000673.2:g.1753432C>A	GRCh38
NC_000011.9:g.1774662C>A , CM000673.1:g.1774662C>A	GRCh37
NC_000011.8:g.1731238C>A	NCBI36
NG_008655.1:g.15561G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.*71G>T MANE Select	ENSP00000236671.2:n.*71G>T
ENST00000367196.4:c.*71G>T	ENSP00000356164.4:n.*71G>T
ENST00000427721.3:c.634+101G>T
ENST00000429746.2:c.*71G>T	ENSP00000402586.2:n.*71G>T
ENST00000433655.6:c.*476G>T	ENSP00000404902.1:n.*476G>T
ENST00000438213.6:c.*71G>T	ENSP00000415036.2:n.*71G>T
ENST00000636397.1:c.1071+371G>T	ENSP00000489910.1:n.1071+371G>T
ENST00000636571.1:c.*71G>T	ENSP00000490770.1:n.*71G>T
ENST00000636579.1:c.72+371G>T	ENSP00000490489.1:n.72+371G>T
ENST00000636615.1:c.1071+371G>T	ENSP00000490014.1:n.1071+371G>T
ENST00000636843.1:c.*71G>T	ENSP00000490897.1:n.*71G>T
ENST00000637158.1:n.908G>T
ENST00000637381.2:n.3738G>T
ENST00000637387.1:c.*71G>T	ENSP00000490598.1:n.*71G>T
ENST00000637815.2:c.*71G>T	ENSP00000490344.1:n.*71G>T
ENST00000637915.1:c.*71G>T	ENSP00000490471.1:n.*71G>T
ENST00000637937.1:n.618G>T
ENST00000678991.1:c.*1171G>T	ENSP00000503019.1:n.*1171G>T
ENST00000236671.6:c.*71G>T	ENSP00000236671.2:n.*71G>T
ENST00000427721.2:c.471+371G>T	ENSP00000415840.2:n.471+371G>T
ENST00000429746.1:c.641G>T	ENSP00000402586.1:n.641G>T
ENST00000433655.5:c.*476G>T	ENSP00000404902.1:n.*476G>T
NM_001909.4:c.*71G>T	NP_001900.1:n.*71G>T
NM_001909.5:c.*71G>T MANE Select	NP_001900.1:n.*71G>T