Canonical Allele Identifier: CA314332

Gene: CTSD

Linked Data

• ClinVar Variation Id: 2194329
• ClinVar RCV Id: RCV002637091 ; RCV002612476
• dbSNP Id: rs374531851
• ExAC: 11:1774797 C / T
• gnomAD v2: 11-1774797-C-T
• gnomAD v3: 11-1753567-C-T
• gnomAD v4: 11-1753567-C-T
• COSMIC: COSM2092141
• MyVariant Identifiers: chr11:g.1774797C>T (hg19) ; chr11:g.1753567C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753567C>T , CM000673.2:g.1753567C>T	GRCh38
NC_000011.9:g.1774797C>T , CM000673.1:g.1774797C>T	GRCh37
NC_000011.8:g.1731373C>T	NCBI36
NG_008655.1:g.15426G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1175G>A MANE Select	ENSP00000236671.2:p.Arg392His
ENST00000367196.4:c.1070G>A	ENSP00000356164.4:p.Arg357His
ENST00000427721.3:c.600G>A
ENST00000429746.2:c.1070G>A	ENSP00000402586.2:p.Arg357His
ENST00000433655.6:c.*341G>A	ENSP00000404902.1:n.*341G>A
ENST00000438213.6:c.1292G>A	ENSP00000415036.2:p.Arg431His
ENST00000636397.1:c.1071+236G>A	ENSP00000489910.1:n.1071+236G>A
ENST00000636571.1:c.1154G>A	ENSP00000490770.1:p.Arg385His
ENST00000636579.1:c.72+236G>A	ENSP00000490489.1:n.72+236G>A
ENST00000636615.1:c.1071+236G>A	ENSP00000490014.1:n.1071+236G>A
ENST00000636843.1:c.1169G>A	ENSP00000490897.1:p.Arg390His
ENST00000637158.1:n.773G>A
ENST00000637381.2:n.3603G>A
ENST00000637387.1:c.1154G>A	ENSP00000490598.1:p.Arg385His
ENST00000637815.2:c.1157G>A	ENSP00000490344.1:p.Arg386His
ENST00000637915.1:c.1166G>A	ENSP00000490471.1:p.Arg389His
ENST00000637937.1:n.483G>A
ENST00000678991.1:c.*1036G>A	ENSP00000503019.1:n.*1036G>A
ENST00000236671.6:c.1175G>A	ENSP00000236671.2:p.Arg392His
ENST00000427721.2:c.471+236G>A	ENSP00000415840.2:n.471+236G>A
ENST00000429746.1:c.506G>A	ENSP00000402586.1:p.Arg169His
ENST00000433655.5:c.*341G>A	ENSP00000404902.1:n.*341G>A
NM_001909.4:c.1175G>A	NP_001900.1:p.Arg392His
NM_001909.5:c.1175G>A MANE Select	NP_001900.1:p.Arg392His