Canonical Allele Identifier: CA5813980

Gene: CTSD

Linked Data

• ClinVar Variation Id: 287377
• ClinVar RCV Id: RCV000389907 ; RCV000725998 ; RCV001434058 ; RCV003940033
• dbSNP Id: rs531682785
• ExAC: 11:1775214 C / T
• gnomAD v2: 11-1775214-C-T
• gnomAD v3: 11-1753984-C-T
• gnomAD v4: 11-1753984-C-T
• MyVariant Identifiers: chr11:g.1775214C>T (hg19) ; chr11:g.1753984C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753984C>T , CM000673.2:g.1753984C>T	GRCh38
NC_000011.9:g.1775214C>T , CM000673.1:g.1775214C>T	GRCh37
NC_000011.8:g.1731790C>T	NCBI36
NG_008655.1:g.15009G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.972+10G>A MANE Select	ENSP00000236671.2:n.972+10G>A
ENST00000367196.4:c.867+10G>A	ENSP00000356164.4:n.867+10G>A
ENST00000427721.3:c.397+10G>A
ENST00000429746.2:c.867+10G>A	ENSP00000402586.2:n.867+10G>A
ENST00000433655.6:c.*138+10G>A	ENSP00000404902.1:n.*138+10G>A
ENST00000438213.6:c.1089+10G>A	ENSP00000415036.2:n.1089+10G>A
ENST00000497544.3:n.598G>A
ENST00000636397.1:c.972+10G>A	ENSP00000489910.1:n.972+10G>A
ENST00000636571.1:c.951+10G>A	ENSP00000490770.1:n.951+10G>A
ENST00000636615.1:c.972+10G>A	ENSP00000490014.1:n.972+10G>A
ENST00000636843.1:c.966+10G>A	ENSP00000490897.1:n.966+10G>A
ENST00000637158.1:n.570+10G>A
ENST00000637381.2:n.3400+10G>A
ENST00000637387.1:c.972+10G>A	ENSP00000490598.1:n.972+10G>A
ENST00000637815.2:c.954+10G>A	ENSP00000490344.1:n.954+10G>A
ENST00000637915.1:c.972+10G>A	ENSP00000490471.1:n.972+10G>A
ENST00000637937.1:n.280+10G>A
ENST00000678991.1:c.*833+10G>A	ENSP00000503019.1:n.*833+10G>A
ENST00000236671.6:c.972+10G>A	ENSP00000236671.2:n.972+10G>A
ENST00000427721.2:c.372+10G>A	ENSP00000415840.2:n.372+10G>A
ENST00000429746.1:c.303+10G>A	ENSP00000402586.1:n.303+10G>A
ENST00000433655.5:c.*138+10G>A	ENSP00000404902.1:n.*138+10G>A
ENST00000497544.1:n.598G>A
NM_001909.4:c.972+10G>A	NP_001900.1:n.972+10G>A
NM_001909.5:c.972+10G>A MANE Select	NP_001900.1:n.972+10G>A