Canonical Allele Identifier: CA5814285

Gene: CTSD

Linked Data

• ClinVar Variation Id: 3019320
• ClinVar RCV Id: RCV003871951
• dbSNP Id: rs765036377
• ExAC: 11:1782647 C / T
• gnomAD v2: 11-1782647-C-T
• gnomAD v3: 11-1761417-C-T
• gnomAD v4: 11-1761417-C-T
• MyVariant Identifiers: chr11:g.1782647C>T (hg19) ; chr11:g.1761417C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1761417C>T , CM000673.2:g.1761417C>T	GRCh38
NC_000011.9:g.1782647C>T , CM000673.1:g.1782647C>T	GRCh37
NC_000011.8:g.1739223C>T	NCBI36
NG_008655.1:g.7576G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.120G>A MANE Select	ENSP00000236671.2:p.Gly40=
ENST00000367196.4:c.15G>A	ENSP00000356164.4:p.Gly5=
ENST00000429746.2:c.15G>A	ENSP00000402586.2:p.Gly5=
ENST00000433655.6:c.120G>A	ENSP00000404902.1:p.Gly40=
ENST00000438213.6:c.120G>A	ENSP00000415036.2:p.Gly40=
ENST00000636397.1:c.120G>A	ENSP00000489910.1:p.Gly40=
ENST00000636571.1:c.120G>A	ENSP00000490770.1:p.Gly40=
ENST00000636615.1:c.120G>A	ENSP00000490014.1:p.Gly40=
ENST00000636843.1:c.120G>A	ENSP00000490897.1:p.Gly40=
ENST00000637381.2:n.2548G>A
ENST00000637387.1:c.120G>A	ENSP00000490598.1:p.Gly40=
ENST00000637815.2:c.120G>A	ENSP00000490344.1:p.Gly40=
ENST00000637915.1:c.120G>A	ENSP00000490471.1:p.Gly40=
ENST00000678991.1:c.263G>A	ENSP00000503019.1:p.Gly88Glu
ENST00000236671.6:c.120G>A	ENSP00000236671.2:p.Gly40=
ENST00000367196.3:c.15G>A	ENSP00000356164.3:p.Gly5=
ENST00000433655.5:c.120G>A	ENSP00000404902.1:p.Gly40=
ENST00000438213.5:c.75G>A	ENSP00000415036.1:p.Gly25=
NM_001909.4:c.120G>A	NP_001900.1:p.Gly40=
NM_001909.5:c.120G>A MANE Select	NP_001900.1:p.Gly40=