Canonical Allele Identifier: CA5813878

Gene: CTSD

Linked Data

• ClinVar Variation Id: 579889
• ClinVar RCV Id: RCV000703279 ; RCV000767946
• dbSNP Id: rs778724059
• ExAC: 11:1774789 T / C
• gnomAD v2: 11-1774789-T-C
• gnomAD v3: 11-1753559-T-C
• gnomAD v4: 11-1753559-T-C
• MyVariant Identifiers: chr11:g.1774789T>C (hg19) ; chr11:g.1753559T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753559T>C , CM000673.2:g.1753559T>C	GRCh38
NC_000011.9:g.1774789T>C , CM000673.1:g.1774789T>C	GRCh37
NC_000011.8:g.1731365T>C	NCBI36
NG_008655.1:g.15434A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.1183A>G MANE Select	ENSP00000236671.2:p.Thr395Ala
ENST00000367196.4:c.1078A>G	ENSP00000356164.4:p.Thr360Ala
ENST00000427721.3:c.608A>G
ENST00000429746.2:c.1078A>G	ENSP00000402586.2:p.Thr360Ala
ENST00000433655.6:c.*349A>G	ENSP00000404902.1:n.*349A>G
ENST00000438213.6:c.1300A>G	ENSP00000415036.2:p.Thr434Ala
ENST00000636397.1:c.1071+244A>G	ENSP00000489910.1:n.1071+244A>G
ENST00000636571.1:c.1162A>G	ENSP00000490770.1:p.Thr388Ala
ENST00000636579.1:c.72+244A>G	ENSP00000490489.1:n.72+244A>G
ENST00000636615.1:c.1071+244A>G	ENSP00000490014.1:n.1071+244A>G
ENST00000636843.1:c.1177A>G	ENSP00000490897.1:p.Thr393Ala
ENST00000637158.1:n.781A>G
ENST00000637381.2:n.3611A>G
ENST00000637387.1:c.1162A>G	ENSP00000490598.1:p.Thr388Ala
ENST00000637815.2:c.1165A>G	ENSP00000490344.1:p.Thr389Ala
ENST00000637915.1:c.1174A>G	ENSP00000490471.1:p.Thr392Ala
ENST00000637937.1:n.491A>G
ENST00000678991.1:c.*1044A>G	ENSP00000503019.1:n.*1044A>G
ENST00000236671.6:c.1183A>G	ENSP00000236671.2:p.Thr395Ala
ENST00000427721.2:c.471+244A>G	ENSP00000415840.2:n.471+244A>G
ENST00000429746.1:c.514A>G	ENSP00000402586.1:p.Thr172Ala
ENST00000433655.5:c.*349A>G	ENSP00000404902.1:n.*349A>G
NM_001909.4:c.1183A>G	NP_001900.1:p.Thr395Ala
NM_001909.5:c.1183A>G MANE Select	NP_001900.1:p.Thr395Ala