Canonical Allele Identifier: CA314364

Gene: CTSD

Linked Data

• ClinVar Variation Id: 205361
• ClinVar RCV Id: RCV000187318 ; RCV001044040
• dbSNP Id: rs373170074
• gnomAD v2: 11-1775240-G-A
• gnomAD v3: 11-1754010-G-A
• gnomAD v4: 11-1754010-G-A
• COSMIC: COSM925521
• MyVariant Identifiers: chr11:g.1775240G>A (hg19) ; chr11:g.1754010G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1754010G>A , CM000673.2:g.1754010G>A	GRCh38
NC_000011.9:g.1775240G>A , CM000673.1:g.1775240G>A	GRCh37
NC_000011.8:g.1731816G>A	NCBI36
NG_008655.1:g.14983C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.956C>T MANE Select	ENSP00000236671.2:p.Pro319Leu
ENST00000367196.4:c.851C>T	ENSP00000356164.4:p.Pro284Leu
ENST00000427721.3:c.381C>T
ENST00000429746.2:c.851C>T	ENSP00000402586.2:p.Pro284Leu
ENST00000433655.6:c.*122C>T	ENSP00000404902.1:n.*122C>T
ENST00000438213.6:c.1073C>T	ENSP00000415036.2:p.Pro358Leu
ENST00000497544.3:n.572C>T
ENST00000636397.1:c.956C>T	ENSP00000489910.1:p.Pro319Leu
ENST00000636571.1:c.935C>T	ENSP00000490770.1:p.Pro312Leu
ENST00000636615.1:c.956C>T	ENSP00000490014.1:p.Pro319Leu
ENST00000636843.1:c.950C>T	ENSP00000490897.1:p.Pro317Leu
ENST00000637158.1:n.554C>T
ENST00000637381.2:n.3384C>T
ENST00000637387.1:c.956C>T	ENSP00000490598.1:p.Pro319Leu
ENST00000637815.2:c.938C>T	ENSP00000490344.1:p.Pro313Leu
ENST00000637915.1:c.956C>T	ENSP00000490471.1:p.Pro319Leu
ENST00000637937.1:n.264C>T
ENST00000678991.1:c.*817C>T	ENSP00000503019.1:n.*817C>T
ENST00000236671.6:c.956C>T	ENSP00000236671.2:p.Pro319Leu
ENST00000427721.2:c.356C>T	ENSP00000415840.2:p.Pro119Leu
ENST00000429746.1:c.287C>T	ENSP00000402586.1:p.Pro96Leu
ENST00000433655.5:c.*122C>T	ENSP00000404902.1:n.*122C>T
ENST00000497544.1:n.572C>T
NM_001909.4:c.956C>T	NP_001900.1:p.Pro319Leu
NM_001909.5:c.956C>T MANE Select	NP_001900.1:p.Pro319Leu