Canonical Allele Identifier: CA314322

Gene: CTSD

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1754089T>G , CM000673.2:g.1754089T>G	GRCh38
NC_000011.9:g.1775319T>G , CM000673.1:g.1775319T>G	GRCh37
NC_000011.8:g.1731895T>G	NCBI36
NG_008655.1:g.14904A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001909.5:c.877A>C MANE Select	NP_001900.1:p.Ile293Leu
ENST00000236671.7:c.877A>C MANE Select	ENSP00000236671.2:p.Ile293Leu
NM_001909.4:c.877A>C	NP_001900.1:p.Ile293Leu
ENST00000236671.6:c.877A>C	ENSP00000236671.2:p.Ile293Leu
ENST00000367196.4:c.772A>C	ENSP00000356164.4:p.Ile258Leu
ENST00000427721.2:c.277A>C	ENSP00000415840.2:p.Ile93Leu
ENST00000427721.3:c.302A>C
ENST00000429746.1:c.208A>C	ENSP00000402586.1:p.Ile70Leu
ENST00000429746.2:c.772A>C	ENSP00000402586.2:p.Ile258Leu
ENST00000433655.5:c.*43A>C	ENSP00000404902.1:n.*43A>C
ENST00000433655.6:c.*43A>C	ENSP00000404902.1:n.*43A>C
ENST00000438213.5:c.832A>C	ENSP00000415036.1:p.Ile278Leu
ENST00000438213.6:c.994A>C	ENSP00000415036.2:p.Ile332Leu
ENST00000497544.1:n.493A>C
ENST00000497544.3:n.493A>C
ENST00000636397.1:c.877A>C	ENSP00000489910.1:p.Ile293Leu
ENST00000636571.1:c.856A>C	ENSP00000490770.1:p.Ile286Leu
ENST00000636615.1:c.877A>C	ENSP00000490014.1:p.Ile293Leu
ENST00000636843.1:c.871A>C	ENSP00000490897.1:p.Ile291Leu
ENST00000637158.1:n.475A>C
ENST00000637381.2:n.3305A>C
ENST00000637387.1:c.877A>C	ENSP00000490598.1:p.Ile293Leu
ENST00000637815.2:c.859A>C	ENSP00000490344.1:p.Ile287Leu
ENST00000637915.1:c.877A>C	ENSP00000490471.1:p.Ile293Leu
ENST00000637937.1:n.185A>C
ENST00000678991.1:c.*738A>C	ENSP00000503019.1:n.*738A>C