Canonical Allele Identifier: CA379092869

Gene: CTSD

Linked Data

• dbSNP Id: rs1845759602
• MyVariant Identifiers: chr11:g.1775047C>T (hg19) ; chr11:g.1753817C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753817C>T , CM000673.2:g.1753817C>T	GRCh38
NC_000011.9:g.1775047C>T , CM000673.1:g.1775047C>T	GRCh37
NC_000011.8:g.1731623C>T	NCBI36
NG_008655.1:g.15176G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1057G>A MANE Select	ENSP00000236671.2:p.Asp353Asn
ENST00000367196.4:c.952G>A	ENSP00000356164.4:p.Asp318Asn
ENST00000427721.3:c.482G>A
ENST00000429746.2:c.952G>A	ENSP00000402586.2:p.Asp318Asn
ENST00000433655.6:c.*223G>A	ENSP00000404902.1:n.*223G>A
ENST00000438213.6:c.1174G>A	ENSP00000415036.2:p.Asp392Asn
ENST00000497544.3:n.765G>A
ENST00000636397.1:c.1057G>A	ENSP00000489910.1:p.Asp353Asn
ENST00000636571.1:c.1036G>A	ENSP00000490770.1:p.Asp346Asn
ENST00000636579.1:c.58G>A	ENSP00000490489.1:p.Asp20Asn
ENST00000636615.1:c.1057G>A	ENSP00000490014.1:p.Asp353Asn
ENST00000636843.1:c.1051G>A	ENSP00000490897.1:p.Asp351Asn
ENST00000637158.1:n.655G>A
ENST00000637381.2:n.3485G>A
ENST00000637387.1:c.1036G>A	ENSP00000490598.1:p.Asp346Asn
ENST00000637815.2:c.1039G>A	ENSP00000490344.1:p.Asp347Asn
ENST00000637915.1:c.1057G>A	ENSP00000490471.1:p.Asp353Asn
ENST00000637937.1:n.365G>A
ENST00000678991.1:c.*918G>A	ENSP00000503019.1:n.*918G>A
ENST00000236671.6:c.1057G>A	ENSP00000236671.2:p.Asp353Asn
ENST00000427721.2:c.457G>A	ENSP00000415840.2:p.Asp153Asn
ENST00000429746.1:c.388G>A	ENSP00000402586.1:p.Asp130Asn
ENST00000433655.5:c.*223G>A	ENSP00000404902.1:n.*223G>A
ENST00000497544.1:n.765G>A
NM_001909.4:c.1057G>A	NP_001900.1:p.Asp353Asn
NM_001909.5:c.1057G>A MANE Select	NP_001900.1:p.Asp353Asn