Canonical Allele Identifier: CA216168638

Gene: CTSD

Linked Data

• ClinVar Variation Id: 2171095
• ClinVar RCV Id: RCV003088774
• dbSNP Id: rs900408135
• gnomAD v2: 11-1774811-G-A
• gnomAD v3: 11-1753581-G-A
• gnomAD v4: 11-1753581-G-A
• MyVariant Identifiers: chr11:g.1774811G>A (hg19) ; chr11:g.1753581G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753581G>A , CM000673.2:g.1753581G>A	GRCh38
NC_000011.9:g.1774811G>A , CM000673.1:g.1774811G>A	GRCh37
NC_000011.8:g.1731387G>A	NCBI36
NG_008655.1:g.15412C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1161C>T MANE Select	ENSP00000236671.2:p.Asp387=
ENST00000367196.4:c.1056C>T	ENSP00000356164.4:p.Asp352=
ENST00000427721.3:c.586C>T
ENST00000429746.2:c.1056C>T	ENSP00000402586.2:p.Asp352=
ENST00000433655.6:c.*327C>T	ENSP00000404902.1:n.*327C>T
ENST00000438213.6:c.1278C>T	ENSP00000415036.2:p.Asp426=
ENST00000636397.1:c.1071+222C>T	ENSP00000489910.1:n.1071+222C>T
ENST00000636571.1:c.1140C>T	ENSP00000490770.1:p.Asp380=
ENST00000636579.1:c.72+222C>T	ENSP00000490489.1:n.72+222C>T
ENST00000636615.1:c.1071+222C>T	ENSP00000490014.1:n.1071+222C>T
ENST00000636843.1:c.1155C>T	ENSP00000490897.1:p.Asp385=
ENST00000637158.1:n.759C>T
ENST00000637381.2:n.3589C>T
ENST00000637387.1:c.1140C>T	ENSP00000490598.1:p.Asp380=
ENST00000637815.2:c.1143C>T	ENSP00000490344.1:p.Asp381=
ENST00000637915.1:c.1152C>T	ENSP00000490471.1:p.Asp384=
ENST00000637937.1:n.469C>T
ENST00000678991.1:c.*1022C>T	ENSP00000503019.1:n.*1022C>T
ENST00000236671.6:c.1161C>T	ENSP00000236671.2:p.Asp387=
ENST00000427721.2:c.471+222C>T	ENSP00000415840.2:n.471+222C>T
ENST00000429746.1:c.492C>T	ENSP00000402586.1:p.Asp164=
ENST00000433655.5:c.*327C>T	ENSP00000404902.1:n.*327C>T
NM_001909.4:c.1161C>T	NP_001900.1:p.Asp387=
NM_001909.5:c.1161C>T MANE Select	NP_001900.1:p.Asp387=