Canonical Allele Identifier: CA5813908

Gene: CTSD

Linked Data

• ClinVar Variation Id: 670819
• ClinVar RCV Id: RCV000829988
• dbSNP Id: rs112379600
• ExAC: 11:1774934 A / G
• gnomAD v2: 11-1774934-A-G
• gnomAD v3: 11-1753704-A-G
• gnomAD v4: 11-1753704-A-G
• MyVariant Identifiers: chr11:g.1774934A>G (hg19) ; chr11:g.1753704A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753704A>G , CM000673.2:g.1753704A>G	GRCh38
NC_000011.9:g.1774934A>G , CM000673.1:g.1774934A>G	GRCh37
NC_000011.8:g.1731510A>G	NCBI36
NG_008655.1:g.15289T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1072-34T>C MANE Select	ENSP00000236671.2:n.1072-34T>C
ENST00000367196.4:c.967-34T>C	ENSP00000356164.4:n.967-34T>C
ENST00000427721.3:c.497-34T>C
ENST00000429746.2:c.967-34T>C	ENSP00000402586.2:n.967-34T>C
ENST00000433655.6:c.*238-34T>C	ENSP00000404902.1:n.*238-34T>C
ENST00000438213.6:c.1189-34T>C	ENSP00000415036.2:n.1189-34T>C
ENST00000497544.3:n.780-34T>C
ENST00000636397.1:c.1071+99T>C	ENSP00000489910.1:n.1071+99T>C
ENST00000636571.1:c.1051-34T>C	ENSP00000490770.1:n.1051-34T>C
ENST00000636579.1:c.72+99T>C	ENSP00000490489.1:n.72+99T>C
ENST00000636615.1:c.1071+99T>C	ENSP00000490014.1:n.1071+99T>C
ENST00000636843.1:c.1066-34T>C	ENSP00000490897.1:n.1066-34T>C
ENST00000637158.1:n.670-34T>C
ENST00000637381.2:n.3500-34T>C
ENST00000637387.1:c.1051-34T>C	ENSP00000490598.1:n.1051-34T>C
ENST00000637815.2:c.1054-34T>C	ENSP00000490344.1:n.1054-34T>C
ENST00000637915.1:c.1072-43T>C	ENSP00000490471.1:n.1072-43T>C
ENST00000637937.1:n.380-34T>C
ENST00000678991.1:c.*933-34T>C	ENSP00000503019.1:n.*933-34T>C
ENST00000236671.6:c.1072-34T>C	ENSP00000236671.2:n.1072-34T>C
ENST00000427721.2:c.471+99T>C	ENSP00000415840.2:n.471+99T>C
ENST00000429746.1:c.403-34T>C	ENSP00000402586.1:n.403-34T>C
ENST00000433655.5:c.*238-34T>C	ENSP00000404902.1:n.*238-34T>C
NM_001909.4:c.1072-34T>C	NP_001900.1:n.1072-34T>C
NM_001909.5:c.1072-34T>C MANE Select	NP_001900.1:n.1072-34T>C