Canonical Allele Identifier: CA290528

Gene: CTSD

Linked Data

• ClinVar Variation Id: 137042
• ClinVar RCV Id: RCV000124626 ; RCV000475449 ; RCV001103554 ; RCV003915248
• dbSNP Id: rs374010531
• ExAC: 11:1775026 C / T
• gnomAD v2: 11-1775026-C-T
• gnomAD v3: 11-1753796-C-T
• gnomAD v4: 11-1753796-C-T
• MyVariant Identifiers: chr11:g.1775026C>T (hg19) ; chr11:g.1753796C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753796C>T , CM000673.2:g.1753796C>T	GRCh38
NC_000011.9:g.1775026C>T , CM000673.1:g.1775026C>T	GRCh37
NC_000011.8:g.1731602C>T	NCBI36
NG_008655.1:g.15197G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1071+7G>A MANE Select	ENSP00000236671.2:n.1071+7G>A
ENST00000367196.4:c.966+7G>A	ENSP00000356164.4:n.966+7G>A
ENST00000427721.3:c.496+7G>A
ENST00000429746.2:c.966+7G>A	ENSP00000402586.2:n.966+7G>A
ENST00000433655.6:c.*237+7G>A	ENSP00000404902.1:n.*237+7G>A
ENST00000438213.6:c.1188+7G>A	ENSP00000415036.2:n.1188+7G>A
ENST00000497544.3:n.779+7G>A
ENST00000636397.1:c.1071+7G>A	ENSP00000489910.1:n.1071+7G>A
ENST00000636571.1:c.1050+7G>A	ENSP00000490770.1:n.1050+7G>A
ENST00000636579.1:c.72+7G>A	ENSP00000490489.1:n.72+7G>A
ENST00000636615.1:c.1071+7G>A	ENSP00000490014.1:n.1071+7G>A
ENST00000636843.1:c.1065+7G>A	ENSP00000490897.1:n.1065+7G>A
ENST00000637158.1:n.669+7G>A
ENST00000637381.2:n.3499+7G>A
ENST00000637387.1:c.1050+7G>A	ENSP00000490598.1:n.1050+7G>A
ENST00000637815.2:c.1053+7G>A	ENSP00000490344.1:n.1053+7G>A
ENST00000637915.1:c.1071+7G>A	ENSP00000490471.1:n.1071+7G>A
ENST00000637937.1:n.379+7G>A
ENST00000678991.1:c.*932+7G>A	ENSP00000503019.1:n.*932+7G>A
ENST00000236671.6:c.1071+7G>A	ENSP00000236671.2:n.1071+7G>A
ENST00000427721.2:c.471+7G>A	ENSP00000415840.2:n.471+7G>A
ENST00000429746.1:c.402+7G>A	ENSP00000402586.1:n.402+7G>A
ENST00000433655.5:c.*237+7G>A	ENSP00000404902.1:n.*237+7G>A
NM_001909.4:c.1071+7G>A	NP_001900.1:n.1071+7G>A
NM_001909.5:c.1071+7G>A MANE Select	NP_001900.1:n.1071+7G>A