Canonical Allele Identifier: CA10634225

Gene: CTSD

Linked Data

• ClinVar Variation Id: 303822
• ClinVar RCV Id: RCV000328943
• dbSNP Id: rs8839
• gnomAD v2: 11-1774136-T-G
• gnomAD v3: 11-1752906-T-G
• gnomAD v4: 11-1752906-T-G
• MyVariant Identifiers: chr11:g.1774136T>G (hg19) ; chr11:g.1752906T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1752906T>G , CM000673.2:g.1752906T>G	GRCh38
NC_000011.9:g.1774136T>G , CM000673.1:g.1774136T>G	GRCh37
NC_000011.8:g.1730712T>G	NCBI36
NG_008655.1:g.16087A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.*597A>C MANE Select	ENSP00000236671.2:n.*597A>C
ENST00000367196.4:c.*597A>C	ENSP00000356164.4:n.*597A>C
ENST00000427721.3:c.634+627A>C
ENST00000429746.2:c.*597A>C	ENSP00000402586.2:n.*597A>C
ENST00000433655.6:c.*1002A>C	ENSP00000404902.1:n.*1002A>C
ENST00000636397.1:c.1071+897A>C	ENSP00000489910.1:n.1071+897A>C
ENST00000636579.1:c.72+897A>C	ENSP00000490489.1:n.72+897A>C
ENST00000636615.1:c.1071+897A>C	ENSP00000490014.1:n.1071+897A>C
ENST00000637381.2:n.4264A>C
ENST00000637815.2:c.*597A>C	ENSP00000490344.1:n.*597A>C
ENST00000637915.1:c.*597A>C	ENSP00000490471.1:n.*597A>C
ENST00000637937.1:n.1144A>C
ENST00000678991.1:c.*1697A>C	ENSP00000503019.1:n.*1697A>C
ENST00000236671.6:c.*597A>C	ENSP00000236671.2:n.*597A>C
ENST00000427721.2:c.471+897A>C	ENSP00000415840.2:n.471+897A>C
ENST00000433655.5:c.*1002A>C	ENSP00000404902.1:n.*1002A>C
NM_001909.4:c.*597A>C	NP_001900.1:n.*597A>C
NM_001909.5:c.*597A>C MANE Select	NP_001900.1:n.*597A>C