Canonical Allele Identifier: CA2839581013

Gene: CTSD

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753450C>A , CM000673.2:g.1753450C>A	GRCh38
NC_000011.9:g.1774680C>A , CM000673.1:g.1774680C>A	GRCh37
NC_000011.8:g.1731256C>A	NCBI36
NG_008655.1:g.15543G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.*53G>T MANE Select	ENSP00000236671.2:n.*53G>T
ENST00000367196.4:c.*53G>T	ENSP00000356164.4:n.*53G>T
ENST00000427721.3:c.634+83G>T
ENST00000429746.2:c.*53G>T	ENSP00000402586.2:n.*53G>T
ENST00000433655.6:c.*458G>T	ENSP00000404902.1:n.*458G>T
ENST00000438213.6:c.*53G>T	ENSP00000415036.2:n.*53G>T
ENST00000636397.1:c.1071+353G>T	ENSP00000489910.1:n.1071+353G>T
ENST00000636571.1:c.*53G>T	ENSP00000490770.1:n.*53G>T
ENST00000636579.1:c.72+353G>T	ENSP00000490489.1:n.72+353G>T
ENST00000636615.1:c.1071+353G>T	ENSP00000490014.1:n.1071+353G>T
ENST00000636843.1:c.*53G>T	ENSP00000490897.1:n.*53G>T
ENST00000637158.1:n.890G>T
ENST00000637381.2:n.3720G>T
ENST00000637387.1:c.*53G>T	ENSP00000490598.1:n.*53G>T
ENST00000637815.2:c.*53G>T	ENSP00000490344.1:n.*53G>T
ENST00000637915.1:c.*53G>T	ENSP00000490471.1:n.*53G>T
ENST00000637937.1:n.600G>T
ENST00000678991.1:c.*1153G>T	ENSP00000503019.1:n.*1153G>T
ENST00000236671.6:c.*53G>T	ENSP00000236671.2:n.*53G>T
ENST00000427721.2:c.471+353G>T	ENSP00000415840.2:n.471+353G>T
ENST00000429746.1:c.623G>T	ENSP00000402586.1:n.623G>T
ENST00000433655.5:c.*458G>T	ENSP00000404902.1:n.*458G>T
NM_001909.4:c.*53G>T	NP_001900.1:n.*53G>T
NM_001909.5:c.*53G>T MANE Select	NP_001900.1:n.*53G>T