Canonical Allele Identifier: CA472139769

Gene: CTSD

Linked Data

• ClinVar Variation Id: 597707
• ClinVar RCV Id: RCV002536507
• dbSNP Id: rs1565018468
• gnomAD v4: 11-1753557-A-C
• MyVariant Identifiers: chr11:g.1774787A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753557A>C , CM000673.2:g.1753557A>C	GRCh38
NC_000011.9:g.1774787A>C , CM000673.1:g.1774787A>C	GRCh37
NC_000011.8:g.1731363A>C	NCBI36
NG_008655.1:g.15436T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.1185T>G MANE Select	ENSP00000236671.2:p.Thr395=
ENST00000367196.4:c.1080T>G	ENSP00000356164.4:p.Thr360=
ENST00000427721.3:c.610T>G
ENST00000429746.2:c.1080T>G	ENSP00000402586.2:p.Thr360=
ENST00000433655.6:c.*351T>G	ENSP00000404902.1:n.*351T>G
ENST00000438213.6:c.1302T>G	ENSP00000415036.2:p.Thr434=
ENST00000636397.1:c.1071+246T>G	ENSP00000489910.1:n.1071+246T>G
ENST00000636571.1:c.1164T>G	ENSP00000490770.1:p.Thr388=
ENST00000636579.1:c.72+246T>G	ENSP00000490489.1:n.72+246T>G
ENST00000636615.1:c.1071+246T>G	ENSP00000490014.1:n.1071+246T>G
ENST00000636843.1:c.1179T>G	ENSP00000490897.1:p.Thr393=
ENST00000637158.1:n.783T>G
ENST00000637381.2:n.3613T>G
ENST00000637387.1:c.1164T>G	ENSP00000490598.1:p.Thr388=
ENST00000637815.2:c.1167T>G	ENSP00000490344.1:p.Thr389=
ENST00000637915.1:c.1176T>G	ENSP00000490471.1:p.Thr392=
ENST00000637937.1:n.493T>G
ENST00000678991.1:c.*1046T>G	ENSP00000503019.1:n.*1046T>G
ENST00000236671.6:c.1185T>G	ENSP00000236671.2:p.Thr395=
ENST00000427721.2:c.471+246T>G	ENSP00000415840.2:n.471+246T>G
ENST00000429746.1:c.516T>G	ENSP00000402586.1:p.Thr172=
ENST00000433655.5:c.*351T>G	ENSP00000404902.1:n.*351T>G
NM_001909.4:c.1185T>G	NP_001900.1:p.Thr395=
NM_001909.5:c.1185T>G MANE Select	NP_001900.1:p.Thr395=