Canonical Allele Identifier: CA5813885

Gene: CTSD

Linked Data

• ClinVar Variation Id: 498487
• ClinVar RCV Id: RCV000597487 ; RCV000698402 ; RCV003352933
• dbSNP Id: rs764522039
• ExAC: 11:1774813 C / T
• gnomAD v2: 11-1774813-C-T
• gnomAD v3: 11-1753583-C-T
• gnomAD v4: 11-1753583-C-T
• MyVariant Identifiers: chr11:g.1774813C>T (hg19) ; chr11:g.1753583C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753583C>T , CM000673.2:g.1753583C>T	GRCh38
NC_000011.9:g.1774813C>T , CM000673.1:g.1774813C>T	GRCh37
NC_000011.8:g.1731389C>T	NCBI36
NG_008655.1:g.15410G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.1159G>A MANE Select	ENSP00000236671.2:p.Asp387Asn
ENST00000367196.4:c.1054G>A	ENSP00000356164.4:p.Asp352Asn
ENST00000427721.3:c.584G>A
ENST00000429746.2:c.1054G>A	ENSP00000402586.2:p.Asp352Asn
ENST00000433655.6:c.*325G>A	ENSP00000404902.1:n.*325G>A
ENST00000438213.6:c.1276G>A	ENSP00000415036.2:p.Asp426Asn
ENST00000636397.1:c.1071+220G>A	ENSP00000489910.1:n.1071+220G>A
ENST00000636571.1:c.1138G>A	ENSP00000490770.1:p.Asp380Asn
ENST00000636579.1:c.72+220G>A	ENSP00000490489.1:n.72+220G>A
ENST00000636615.1:c.1071+220G>A	ENSP00000490014.1:n.1071+220G>A
ENST00000636843.1:c.1153G>A	ENSP00000490897.1:p.Asp385Asn
ENST00000637158.1:n.757G>A
ENST00000637381.2:n.3587G>A
ENST00000637387.1:c.1138G>A	ENSP00000490598.1:p.Asp380Asn
ENST00000637815.2:c.1141G>A	ENSP00000490344.1:p.Asp381Asn
ENST00000637915.1:c.1150G>A	ENSP00000490471.1:p.Asp384Asn
ENST00000637937.1:n.467G>A
ENST00000678991.1:c.*1020G>A	ENSP00000503019.1:n.*1020G>A
ENST00000236671.6:c.1159G>A	ENSP00000236671.2:p.Asp387Asn
ENST00000427721.2:c.471+220G>A	ENSP00000415840.2:n.471+220G>A
ENST00000429746.1:c.490G>A	ENSP00000402586.1:p.Asp164Asn
ENST00000433655.5:c.*325G>A	ENSP00000404902.1:n.*325G>A
NM_001909.4:c.1159G>A	NP_001900.1:p.Asp387Asn
NM_001909.5:c.1159G>A MANE Select	NP_001900.1:p.Asp387Asn