Canonical Allele Identifier: CA379094229

Gene: CTSD

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1754140T>G , CM000673.2:g.1754140T>G	GRCh38
NC_000011.9:g.1775370T>G , CM000673.1:g.1775370T>G	GRCh37
NC_000011.8:g.1731946T>G	NCBI36
NG_008655.1:g.14853A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001909.5:c.828-2A>C MANE Select	NP_001900.1:n.828-2A>C
ENST00000236671.7:c.828-2A>C MANE Select	ENSP00000236671.2:n.828-2A>C
NM_001909.4:c.828-2A>C	NP_001900.1:n.828-2A>C
ENST00000236671.6:c.828-2A>C	ENSP00000236671.2:n.828-2A>C
ENST00000367196.4:c.723-2A>C	ENSP00000356164.4:n.723-2A>C
ENST00000427721.2:c.228-2A>C	ENSP00000415840.2:n.228-2A>C
ENST00000427721.3:c.253-2A>C
ENST00000429746.1:c.157A>C	ENSP00000402586.1:p.Arg53=
ENST00000429746.2:c.723-2A>C	ENSP00000402586.2:n.723-2A>C
ENST00000433655.5:c.*1-9A>C	ENSP00000404902.1:n.*1-9A>C
ENST00000433655.6:c.*1-9A>C	ENSP00000404902.1:n.*1-9A>C
ENST00000438213.5:c.783-2A>C	ENSP00000415036.1:n.783-2A>C
ENST00000438213.6:c.943A>C	ENSP00000415036.2:p.Arg315=
ENST00000497544.1:n.444-2A>C
ENST00000497544.3:n.444-2A>C
ENST00000636397.1:c.828-2A>C	ENSP00000489910.1:n.828-2A>C
ENST00000636571.1:c.807-2A>C	ENSP00000490770.1:n.807-2A>C
ENST00000636615.1:c.828-2A>C	ENSP00000490014.1:n.828-2A>C
ENST00000636843.1:c.822-2A>C	ENSP00000490897.1:n.822-2A>C
ENST00000637158.1:n.426-2A>C
ENST00000637381.2:n.3256-2A>C
ENST00000637387.1:c.828-2A>C	ENSP00000490598.1:n.828-2A>C
ENST00000637815.2:c.810-2A>C	ENSP00000490344.1:n.810-2A>C
ENST00000637915.1:c.828-2A>C	ENSP00000490471.1:n.828-2A>C
ENST00000637937.1:n.136-2A>C
ENST00000678991.1:c.*689-2A>C	ENSP00000503019.1:n.*689-2A>C