Canonical Allele Identifier: CA290532

Gene: CTSD

Linked Data

• ClinVar Variation Id: 137045
• ClinVar RCV Id: RCV000124630 ; RCV000632755
• dbSNP Id: rs145821780
• ExAC: 11:1774850 G / A
• gnomAD v2: 11-1774850-G-A
• gnomAD v3: 11-1753620-G-A
• gnomAD v4: 11-1753620-G-A
• MyVariant Identifiers: chr11:g.1774850G>A (hg19) ; chr11:g.1753620G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753620G>A , CM000673.2:g.1753620G>A	GRCh38
NC_000011.9:g.1774850G>A , CM000673.1:g.1774850G>A	GRCh37
NC_000011.8:g.1731426G>A	NCBI36
NG_008655.1:g.15373C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1122C>T MANE Select	ENSP00000236671.2:p.Asp374=
ENST00000367196.4:c.1017C>T	ENSP00000356164.4:p.Asp339=
ENST00000427721.3:c.547C>T
ENST00000429746.2:c.1017C>T	ENSP00000402586.2:p.Asp339=
ENST00000433655.6:c.*288C>T	ENSP00000404902.1:n.*288C>T
ENST00000438213.6:c.1239C>T	ENSP00000415036.2:p.Asp413=
ENST00000636397.1:c.1071+183C>T	ENSP00000489910.1:n.1071+183C>T
ENST00000636571.1:c.1101C>T	ENSP00000490770.1:p.Asp367=
ENST00000636579.1:c.72+183C>T	ENSP00000490489.1:n.72+183C>T
ENST00000636615.1:c.1071+183C>T	ENSP00000490014.1:n.1071+183C>T
ENST00000636843.1:c.1116C>T	ENSP00000490897.1:p.Asp372=
ENST00000637158.1:n.720C>T
ENST00000637381.2:n.3550C>T
ENST00000637387.1:c.1101C>T	ENSP00000490598.1:p.Asp367=
ENST00000637815.2:c.1104C>T	ENSP00000490344.1:p.Asp368=
ENST00000637915.1:c.1113C>T	ENSP00000490471.1:p.Asp371=
ENST00000637937.1:n.430C>T
ENST00000678991.1:c.*983C>T	ENSP00000503019.1:n.*983C>T
ENST00000236671.6:c.1122C>T	ENSP00000236671.2:p.Asp374=
ENST00000427721.2:c.471+183C>T	ENSP00000415840.2:n.471+183C>T
ENST00000429746.1:c.453C>T	ENSP00000402586.1:p.Asp151=
ENST00000433655.5:c.*288C>T	ENSP00000404902.1:n.*288C>T
NM_001909.4:c.1122C>T	NP_001900.1:p.Asp374=
NM_001909.5:c.1122C>T MANE Select	NP_001900.1:p.Asp374=