Canonical Allele Identifier: CA5813877

Gene: CTSD

Linked Data

• dbSNP Id: rs768422963
• ExAC: 11:1774777 G / A
• gnomAD v2: 11-1774777-G-A
• gnomAD v4: 11-1753547-G-A
• MyVariant Identifiers: chr11:g.1774777G>A (hg19) ; chr11:g.1753547G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753547G>A , CM000673.2:g.1753547G>A	GRCh38
NC_000011.9:g.1774777G>A , CM000673.1:g.1774777G>A	GRCh37
NC_000011.8:g.1731353G>A	NCBI36
NG_008655.1:g.15446C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.1195C>T MANE Select	ENSP00000236671.2:p.Arg399Cys
ENST00000367196.4:c.1090C>T	ENSP00000356164.4:p.Arg364Cys
ENST00000427721.3:c.620C>T
ENST00000429746.2:c.1090C>T	ENSP00000402586.2:p.Arg364Cys
ENST00000433655.6:c.*361C>T	ENSP00000404902.1:n.*361C>T
ENST00000438213.6:c.1312C>T	ENSP00000415036.2:p.Arg438Cys
ENST00000636397.1:c.1071+256C>T	ENSP00000489910.1:n.1071+256C>T
ENST00000636571.1:c.1174C>T	ENSP00000490770.1:p.Arg392Cys
ENST00000636579.1:c.72+256C>T	ENSP00000490489.1:n.72+256C>T
ENST00000636615.1:c.1071+256C>T	ENSP00000490014.1:n.1071+256C>T
ENST00000636843.1:c.1189C>T	ENSP00000490897.1:p.Arg397Cys
ENST00000637158.1:n.793C>T
ENST00000637381.2:n.3623C>T
ENST00000637387.1:c.1174C>T	ENSP00000490598.1:p.Arg392Cys
ENST00000637815.2:c.1177C>T	ENSP00000490344.1:p.Arg393Cys
ENST00000637915.1:c.1186C>T	ENSP00000490471.1:p.Arg396Cys
ENST00000637937.1:n.503C>T
ENST00000678991.1:c.*1056C>T	ENSP00000503019.1:n.*1056C>T
ENST00000236671.6:c.1195C>T	ENSP00000236671.2:p.Arg399Cys
ENST00000427721.2:c.471+256C>T	ENSP00000415840.2:n.471+256C>T
ENST00000429746.1:c.526C>T	ENSP00000402586.1:p.Arg176Cys
ENST00000433655.5:c.*361C>T	ENSP00000404902.1:n.*361C>T
NM_001909.4:c.1195C>T	NP_001900.1:p.Arg399Cys
NM_001909.5:c.1195C>T MANE Select	NP_001900.1:p.Arg399Cys