Canonical Allele Identifier: CA314362

Gene: CTSD

Linked Data

• ClinVar Variation Id: 205360
• ClinVar RCV Id: RCV000864860 ; RCV001711476 ; RCV003144152 ; RCV002314714
• dbSNP Id: rs374540411
• ExAC: 11:1775270 C / T
• gnomAD v2: 11-1775270-C-T
• gnomAD v3: 11-1754040-C-T
• gnomAD v4: 11-1754040-C-T
• COSMIC: COSM3769261
• MyVariant Identifiers: chr11:g.1775270C>T (hg19) ; chr11:g.1754040C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1754040C>T , CM000673.2:g.1754040C>T	GRCh38
NC_000011.9:g.1775270C>T , CM000673.1:g.1775270C>T	GRCh37
NC_000011.8:g.1731846C>T	NCBI36
NG_008655.1:g.14953G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.926G>A MANE Select	ENSP00000236671.2:p.Arg309His
ENST00000367196.4:c.821G>A	ENSP00000356164.4:p.Arg274His
ENST00000427721.3:c.351G>A
ENST00000429746.2:c.821G>A	ENSP00000402586.2:p.Arg274His
ENST00000433655.6:c.*92G>A	ENSP00000404902.1:n.*92G>A
ENST00000438213.6:c.1043G>A	ENSP00000415036.2:p.Arg348His
ENST00000497544.3:n.542G>A
ENST00000636397.1:c.926G>A	ENSP00000489910.1:p.Arg309His
ENST00000636571.1:c.905G>A	ENSP00000490770.1:p.Arg302His
ENST00000636615.1:c.926G>A	ENSP00000490014.1:p.Arg309His
ENST00000636843.1:c.920G>A	ENSP00000490897.1:p.Arg307His
ENST00000637158.1:n.524G>A
ENST00000637381.2:n.3354G>A
ENST00000637387.1:c.926G>A	ENSP00000490598.1:p.Arg309His
ENST00000637815.2:c.908G>A	ENSP00000490344.1:p.Arg303His
ENST00000637915.1:c.926G>A	ENSP00000490471.1:p.Arg309His
ENST00000637937.1:n.234G>A
ENST00000678991.1:c.*787G>A	ENSP00000503019.1:n.*787G>A
ENST00000236671.6:c.926G>A	ENSP00000236671.2:p.Arg309His
ENST00000427721.2:c.326G>A	ENSP00000415840.2:p.Arg109His
ENST00000429746.1:c.257G>A	ENSP00000402586.1:p.Arg86His
ENST00000433655.5:c.*92G>A	ENSP00000404902.1:n.*92G>A
ENST00000438213.5:c.881G>A	ENSP00000415036.1:p.Arg294His
ENST00000497544.1:n.542G>A
NM_001909.4:c.926G>A	NP_001900.1:p.Arg309His
NM_001909.5:c.926G>A MANE Select	NP_001900.1:p.Arg309His