Canonical Allele Identifier: CA5813869

Gene: CTSD

Linked Data

• dbSNP Id: rs554062876
• ExAC: 11:1774750 C / G
• gnomAD v2: 11-1774750-C-G
• gnomAD v3: 11-1753520-C-G
• gnomAD v4: 11-1753520-C-G
• MyVariant Identifiers: chr11:g.1774750C>G (hg19) ; chr11:g.1753520C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753520C>G , CM000673.2:g.1753520C>G	GRCh38
NC_000011.9:g.1774750C>G , CM000673.1:g.1774750C>G	GRCh37
NC_000011.8:g.1731326C>G	NCBI36
NG_008655.1:g.15473G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.1222G>C MANE Select	ENSP00000236671.2:p.Glu408Gln
ENST00000367196.4:c.1117G>C	ENSP00000356164.4:p.Glu373Gln
ENST00000427721.3:c.634+13G>C
ENST00000429746.2:c.1117G>C	ENSP00000402586.2:p.Glu373Gln
ENST00000433655.6:c.*388G>C	ENSP00000404902.1:n.*388G>C
ENST00000438213.6:c.1339G>C	ENSP00000415036.2:p.Glu447Gln
ENST00000636397.1:c.1071+283G>C	ENSP00000489910.1:n.1071+283G>C
ENST00000636571.1:c.1201G>C	ENSP00000490770.1:p.Glu401Gln
ENST00000636579.1:c.72+283G>C	ENSP00000490489.1:n.72+283G>C
ENST00000636615.1:c.1071+283G>C	ENSP00000490014.1:n.1071+283G>C
ENST00000636843.1:c.1216G>C	ENSP00000490897.1:p.Glu406Gln
ENST00000637158.1:n.820G>C
ENST00000637381.2:n.3650G>C
ENST00000637387.1:c.1201G>C	ENSP00000490598.1:p.Glu401Gln
ENST00000637815.2:c.1204G>C	ENSP00000490344.1:p.Glu402Gln
ENST00000637915.1:c.1213G>C	ENSP00000490471.1:p.Glu405Gln
ENST00000637937.1:n.530G>C
ENST00000678991.1:c.*1083G>C	ENSP00000503019.1:n.*1083G>C
ENST00000236671.6:c.1222G>C	ENSP00000236671.2:p.Glu408Gln
ENST00000427721.2:c.471+283G>C	ENSP00000415840.2:n.471+283G>C
ENST00000429746.1:c.553G>C	ENSP00000402586.1:p.Glu185Gln
ENST00000433655.5:c.*388G>C	ENSP00000404902.1:n.*388G>C
NM_001909.4:c.1222G>C	NP_001900.1:p.Glu408Gln
NM_001909.5:c.1222G>C MANE Select	NP_001900.1:p.Glu408Gln