Canonical Allele Identifier: CA379092770

Gene: CTSD

Linked Data

• gnomAD v4: 11-1753660-G-A
• MyVariant Identifiers: chr11:g.1774890G>A (hg19) ; chr11:g.1753660G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753660G>A , CM000673.2:g.1753660G>A	GRCh38
NC_000011.9:g.1774890G>A , CM000673.1:g.1774890G>A	GRCh37
NC_000011.8:g.1731466G>A	NCBI36
NG_008655.1:g.15333C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1082C>T MANE Select	ENSP00000236671.2:p.Ala361Val
ENST00000367196.4:c.977C>T	ENSP00000356164.4:p.Ala326Val
ENST00000427721.3:c.507C>T
ENST00000429746.2:c.977C>T	ENSP00000402586.2:p.Ala326Val
ENST00000433655.6:c.*248C>T	ENSP00000404902.1:n.*248C>T
ENST00000438213.6:c.1199C>T	ENSP00000415036.2:p.Ala400Val
ENST00000497544.3:n.790C>T
ENST00000636397.1:c.1071+143C>T	ENSP00000489910.1:n.1071+143C>T
ENST00000636571.1:c.1061C>T	ENSP00000490770.1:p.Ala354Val
ENST00000636579.1:c.72+143C>T	ENSP00000490489.1:n.72+143C>T
ENST00000636615.1:c.1071+143C>T	ENSP00000490014.1:n.1071+143C>T
ENST00000636843.1:c.1076C>T	ENSP00000490897.1:p.Ala359Val
ENST00000637158.1:n.680C>T
ENST00000637381.2:n.3510C>T
ENST00000637387.1:c.1061C>T	ENSP00000490598.1:p.Ala354Val
ENST00000637815.2:c.1064C>T	ENSP00000490344.1:p.Ala355Val
ENST00000637915.1:c.1073C>T	ENSP00000490471.1:p.Ala358Val
ENST00000637937.1:n.390C>T
ENST00000678991.1:c.*943C>T	ENSP00000503019.1:n.*943C>T
ENST00000236671.6:c.1082C>T	ENSP00000236671.2:p.Ala361Val
ENST00000427721.2:c.471+143C>T	ENSP00000415840.2:n.471+143C>T
ENST00000429746.1:c.413C>T	ENSP00000402586.1:p.Ala138Val
ENST00000433655.5:c.*248C>T	ENSP00000404902.1:n.*248C>T
NM_001909.4:c.1082C>T	NP_001900.1:p.Ala361Val
NM_001909.5:c.1082C>T MANE Select	NP_001900.1:p.Ala361Val