Canonical Allele Identifier: CA2580082667

Gene: CTSD

Linked Data

• ClinVar Variation Id: 2023674
• ClinVar RCV Id: RCV002875910

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753987C>G , CM000673.2:g.1753987C>G	GRCh38
NC_000011.9:g.1775217C>G , CM000673.1:g.1775217C>G	GRCh37
NC_000011.8:g.1731793C>G	NCBI36
NG_008655.1:g.15006G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.972+7G>C MANE Select	ENSP00000236671.2:n.972+7G>C
ENST00000367196.4:c.867+7G>C	ENSP00000356164.4:n.867+7G>C
ENST00000427721.3:c.397+7G>C
ENST00000429746.2:c.867+7G>C	ENSP00000402586.2:n.867+7G>C
ENST00000433655.6:c.*138+7G>C	ENSP00000404902.1:n.*138+7G>C
ENST00000438213.6:c.1089+7G>C	ENSP00000415036.2:n.1089+7G>C
ENST00000497544.3:n.595G>C
ENST00000636397.1:c.972+7G>C	ENSP00000489910.1:n.972+7G>C
ENST00000636571.1:c.951+7G>C	ENSP00000490770.1:n.951+7G>C
ENST00000636615.1:c.972+7G>C	ENSP00000490014.1:n.972+7G>C
ENST00000636843.1:c.966+7G>C	ENSP00000490897.1:n.966+7G>C
ENST00000637158.1:n.570+7G>C
ENST00000637381.2:n.3400+7G>C
ENST00000637387.1:c.972+7G>C	ENSP00000490598.1:n.972+7G>C
ENST00000637815.2:c.954+7G>C	ENSP00000490344.1:n.954+7G>C
ENST00000637915.1:c.972+7G>C	ENSP00000490471.1:n.972+7G>C
ENST00000637937.1:n.280+7G>C
ENST00000678991.1:c.*833+7G>C	ENSP00000503019.1:n.*833+7G>C
ENST00000236671.6:c.972+7G>C	ENSP00000236671.2:n.972+7G>C
ENST00000427721.2:c.372+7G>C	ENSP00000415840.2:n.372+7G>C
ENST00000429746.1:c.303+7G>C	ENSP00000402586.1:n.303+7G>C
ENST00000433655.5:c.*138+7G>C	ENSP00000404902.1:n.*138+7G>C
ENST00000497544.1:n.595G>C
NM_001909.4:c.972+7G>C	NP_001900.1:n.972+7G>C
NM_001909.5:c.972+7G>C MANE Select	NP_001900.1:n.972+7G>C