Canonical Allele Identifier: CA379092349

Gene: CTSD

Linked Data

• dbSNP Id: rs1845753988
• gnomAD v3: 11-1753528-C-G
• gnomAD v4: 11-1753528-C-G
• MyVariant Identifiers: chr11:g.1774758C>G (hg19) ; chr11:g.1753528C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753528C>G , CM000673.2:g.1753528C>G	GRCh38
NC_000011.9:g.1774758C>G , CM000673.1:g.1774758C>G	GRCh37
NC_000011.8:g.1731334C>G	NCBI36
NG_008655.1:g.15465G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1214G>C MANE Select	ENSP00000236671.2:p.Gly405Ala
ENST00000367196.4:c.1109G>C	ENSP00000356164.4:p.Gly370Ala
ENST00000427721.3:c.634+5G>C
ENST00000429746.2:c.1109G>C	ENSP00000402586.2:p.Gly370Ala
ENST00000433655.6:c.*380G>C	ENSP00000404902.1:n.*380G>C
ENST00000438213.6:c.1331G>C	ENSP00000415036.2:p.Gly444Ala
ENST00000636397.1:c.1071+275G>C	ENSP00000489910.1:n.1071+275G>C
ENST00000636571.1:c.1193G>C	ENSP00000490770.1:p.Gly398Ala
ENST00000636579.1:c.72+275G>C	ENSP00000490489.1:n.72+275G>C
ENST00000636615.1:c.1071+275G>C	ENSP00000490014.1:n.1071+275G>C
ENST00000636843.1:c.1208G>C	ENSP00000490897.1:p.Gly403Ala
ENST00000637158.1:n.812G>C
ENST00000637381.2:n.3642G>C
ENST00000637387.1:c.1193G>C	ENSP00000490598.1:p.Gly398Ala
ENST00000637815.2:c.1196G>C	ENSP00000490344.1:p.Gly399Ala
ENST00000637915.1:c.1205G>C	ENSP00000490471.1:p.Gly402Ala
ENST00000637937.1:n.522G>C
ENST00000678991.1:c.*1075G>C	ENSP00000503019.1:n.*1075G>C
ENST00000236671.6:c.1214G>C	ENSP00000236671.2:p.Gly405Ala
ENST00000427721.2:c.471+275G>C	ENSP00000415840.2:n.471+275G>C
ENST00000429746.1:c.545G>C	ENSP00000402586.1:p.Gly182Ala
ENST00000433655.5:c.*380G>C	ENSP00000404902.1:n.*380G>C
NM_001909.4:c.1214G>C	NP_001900.1:p.Gly405Ala
NM_001909.5:c.1214G>C MANE Select	NP_001900.1:p.Gly405Ala