Canonical Allele Identifier: CA5813950

Gene: CTSD

Linked Data

• ClinVar Variation Id: 282729
• ClinVar RCV Id: RCV000308097 ; RCV000725129 ; RCV001084655 ; RCV002429217
• dbSNP Id: rs147800688
• ExAC: 11:1775095 C / T
• gnomAD v2: 11-1775095-C-T
• gnomAD v3: 11-1753865-C-T
• gnomAD v4: 11-1753865-C-T
• MyVariant Identifiers: chr11:g.1775095C>T (hg19) ; chr11:g.1753865C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753865C>T , CM000673.2:g.1753865C>T	GRCh38
NC_000011.9:g.1775095C>T , CM000673.1:g.1775095C>T	GRCh37
NC_000011.8:g.1731671C>T	NCBI36
NG_008655.1:g.15128G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1009G>A MANE Select	ENSP00000236671.2:p.Ala337Thr
ENST00000367196.4:c.904G>A	ENSP00000356164.4:p.Ala302Thr
ENST00000427721.3:c.434G>A
ENST00000429746.2:c.904G>A	ENSP00000402586.2:p.Ala302Thr
ENST00000433655.6:c.*175G>A	ENSP00000404902.1:n.*175G>A
ENST00000438213.6:c.1126G>A	ENSP00000415036.2:p.Ala376Thr
ENST00000497544.3:n.717G>A
ENST00000636397.1:c.1009G>A	ENSP00000489910.1:p.Ala337Thr
ENST00000636571.1:c.988G>A	ENSP00000490770.1:p.Ala330Thr
ENST00000636579.1:c.10G>A	ENSP00000490489.1:p.Ala4Thr
ENST00000636615.1:c.1009G>A	ENSP00000490014.1:p.Ala337Thr
ENST00000636843.1:c.1003G>A	ENSP00000490897.1:p.Ala335Thr
ENST00000637158.1:n.607G>A
ENST00000637381.2:n.3437G>A
ENST00000637387.1:c.988G>A	ENSP00000490598.1:p.Ala330Thr
ENST00000637815.2:c.991G>A	ENSP00000490344.1:p.Ala331Thr
ENST00000637915.1:c.1009G>A	ENSP00000490471.1:p.Ala337Thr
ENST00000637937.1:n.317G>A
ENST00000678991.1:c.*870G>A	ENSP00000503019.1:n.*870G>A
ENST00000236671.6:c.1009G>A	ENSP00000236671.2:p.Ala337Thr
ENST00000427721.2:c.409G>A	ENSP00000415840.2:p.Ala137Thr
ENST00000429746.1:c.340G>A	ENSP00000402586.1:p.Ala114Thr
ENST00000433655.5:c.*175G>A	ENSP00000404902.1:n.*175G>A
ENST00000497544.1:n.717G>A
NM_001909.4:c.1009G>A	NP_001900.1:p.Ala337Thr
NM_001909.5:c.1009G>A MANE Select	NP_001900.1:p.Ala337Thr