Canonical Allele Identifier: CA5814123

Gene: CTSD

Linked Data

• ClinVar Variation Id: 949418
• ClinVar RCV Id: RCV001220875 ; RCV002356940
• dbSNP Id: rs779469223
• ExAC: 11:1778627 C / T
• gnomAD v2: 11-1778627-C-T
• gnomAD v3: 11-1757397-C-T
• gnomAD v4: 11-1757397-C-T
• MyVariant Identifiers: chr11:g.1778627C>T (hg19) ; chr11:g.1757397C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1757397C>T , CM000673.2:g.1757397C>T	GRCh38
NC_000011.9:g.1778627C>T , CM000673.1:g.1778627C>T	GRCh37
NC_000011.8:g.1735203C>T	NCBI36
NG_008655.1:g.11596G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.631G>A MANE Select	ENSP00000236671.2:p.Val211Met
ENST00000367196.4:c.526G>A	ENSP00000356164.4:p.Val176Met
ENST00000427721.3:c.56G>A
ENST00000429746.2:c.526G>A	ENSP00000402586.2:p.Val176Met
ENST00000433655.6:c.631G>A	ENSP00000404902.1:p.Val211Met
ENST00000438213.6:c.631G>A	ENSP00000415036.2:p.Val211Met
ENST00000636397.1:c.631G>A	ENSP00000489910.1:p.Val211Met
ENST00000636571.1:c.610G>A	ENSP00000490770.1:p.Val204Met
ENST00000636615.1:c.631G>A	ENSP00000490014.1:p.Val211Met
ENST00000636843.1:c.625G>A	ENSP00000490897.1:p.Val209Met
ENST00000637158.1:n.229G>A
ENST00000637381.2:n.3059G>A
ENST00000637387.1:c.631G>A	ENSP00000490598.1:p.Val211Met
ENST00000637815.2:c.631G>A	ENSP00000490344.1:p.Val211Met
ENST00000637915.1:c.631G>A	ENSP00000490471.1:p.Val211Met
ENST00000677300.1:n.1026G>A
ENST00000678991.1:c.*492G>A	ENSP00000503019.1:n.*492G>A
ENST00000236671.6:c.631G>A	ENSP00000236671.2:p.Val211Met
ENST00000367196.3:c.526G>A	ENSP00000356164.3:p.Val176Met
ENST00000427721.2:c.31G>A	ENSP00000415840.2:p.Val11Met
ENST00000433655.5:c.631G>A	ENSP00000404902.1:p.Val211Met
ENST00000438213.5:c.586G>A	ENSP00000415036.1:p.Val196Met
NM_001909.4:c.631G>A	NP_001900.1:p.Val211Met
NM_001909.5:c.631G>A MANE Select	NP_001900.1:p.Val211Met