Canonical Allele Identifier: CA379095850

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1778570A>T (hg19) ; chr11:g.1757340A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1757340A>T , CM000673.2:g.1757340A>T	GRCh38
NC_000011.9:g.1778570A>T , CM000673.1:g.1778570A>T	GRCh37
NC_000011.8:g.1735146A>T	NCBI36
NG_008655.1:g.11653T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.688T>A MANE Select	ENSP00000236671.2:p.Ser230Thr
ENST00000367196.4:c.583T>A	ENSP00000356164.4:p.Ser195Thr
ENST00000427721.3:c.113T>A
ENST00000429746.2:c.583T>A	ENSP00000402586.2:p.Ser195Thr
ENST00000433655.6:c.688T>A	ENSP00000404902.1:p.Ser230Thr
ENST00000438213.6:c.688T>A	ENSP00000415036.2:p.Ser230Thr
ENST00000636397.1:c.688T>A	ENSP00000489910.1:p.Ser230Thr
ENST00000636571.1:c.667T>A	ENSP00000490770.1:p.Ser223Thr
ENST00000636615.1:c.688T>A	ENSP00000490014.1:p.Ser230Thr
ENST00000636843.1:c.682T>A	ENSP00000490897.1:p.Ser228Thr
ENST00000637158.1:n.286T>A
ENST00000637381.2:n.3116T>A
ENST00000637387.1:c.688T>A	ENSP00000490598.1:p.Ser230Thr
ENST00000637815.2:c.688T>A	ENSP00000490344.1:p.Ser230Thr
ENST00000637915.1:c.688T>A	ENSP00000490471.1:p.Ser230Thr
ENST00000678991.1:c.*549T>A	ENSP00000503019.1:n.*549T>A
ENST00000236671.6:c.688T>A	ENSP00000236671.2:p.Ser230Thr
ENST00000367196.3:c.583T>A	ENSP00000356164.3:p.Ser195Thr
ENST00000427721.2:c.88T>A	ENSP00000415840.2:p.Ser30Thr
ENST00000433655.5:c.688T>A	ENSP00000404902.1:p.Ser230Thr
ENST00000438213.5:c.643T>A	ENSP00000415036.1:p.Ser215Thr
NM_001909.4:c.688T>A	NP_001900.1:p.Ser230Thr
NM_001909.5:c.688T>A MANE Select	NP_001900.1:p.Ser230Thr