Canonical Allele Identifier: CA5813953

Gene: CTSD

Linked Data

• dbSNP Id: rs779665398
• ExAC: 11:1775119 A / T
• gnomAD v2: 11-1775119-A-T
• gnomAD v3: 11-1753889-A-T
• gnomAD v4: 11-1753889-A-T
• MyVariant Identifiers: chr11:g.1775119A>T (hg19) ; chr11:g.1753889A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753889A>T , CM000673.2:g.1753889A>T	GRCh38
NC_000011.9:g.1775119A>T , CM000673.1:g.1775119A>T	GRCh37
NC_000011.8:g.1731695A>T	NCBI36
NG_008655.1:g.15104T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.985T>A MANE Select	ENSP00000236671.2:p.Cys329Ser
ENST00000367196.4:c.880T>A	ENSP00000356164.4:p.Cys294Ser
ENST00000427721.3:c.410T>A
ENST00000429746.2:c.880T>A	ENSP00000402586.2:p.Cys294Ser
ENST00000433655.6:c.*151T>A	ENSP00000404902.1:n.*151T>A
ENST00000438213.6:c.1102T>A	ENSP00000415036.2:p.Cys368Ser
ENST00000497544.3:n.693T>A
ENST00000636397.1:c.985T>A	ENSP00000489910.1:p.Cys329Ser
ENST00000636571.1:c.964T>A	ENSP00000490770.1:p.Cys322Ser
ENST00000636615.1:c.985T>A	ENSP00000490014.1:p.Cys329Ser
ENST00000636843.1:c.979T>A	ENSP00000490897.1:p.Cys327Ser
ENST00000637158.1:n.583T>A
ENST00000637381.2:n.3413T>A
ENST00000637387.1:c.973-9T>A	ENSP00000490598.1:n.973-9T>A
ENST00000637815.2:c.967T>A	ENSP00000490344.1:p.Cys323Ser
ENST00000637915.1:c.985T>A	ENSP00000490471.1:p.Cys329Ser
ENST00000637937.1:n.293T>A
ENST00000678991.1:c.*846T>A	ENSP00000503019.1:n.*846T>A
ENST00000236671.6:c.985T>A	ENSP00000236671.2:p.Cys329Ser
ENST00000427721.2:c.385T>A	ENSP00000415840.2:p.Cys129Ser
ENST00000429746.1:c.316T>A	ENSP00000402586.1:p.Cys106Ser
ENST00000433655.5:c.*151T>A	ENSP00000404902.1:n.*151T>A
ENST00000497544.1:n.693T>A
NM_001909.4:c.985T>A	NP_001900.1:p.Cys329Ser
NM_001909.5:c.985T>A MANE Select	NP_001900.1:p.Cys329Ser