Canonical Allele Identifier: CA379093765

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1775273A>T (hg19) ; chr11:g.1754043A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1754043A>T , CM000673.2:g.1754043A>T	GRCh38
NC_000011.9:g.1775273A>T , CM000673.1:g.1775273A>T	GRCh37
NC_000011.8:g.1731849A>T	NCBI36
NG_008655.1:g.14950T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.923T>A MANE Select	ENSP00000236671.2:p.Val308Glu
ENST00000367196.4:c.818T>A	ENSP00000356164.4:p.Val273Glu
ENST00000427721.3:c.348T>A
ENST00000429746.2:c.818T>A	ENSP00000402586.2:p.Val273Glu
ENST00000433655.6:c.*89T>A	ENSP00000404902.1:n.*89T>A
ENST00000438213.6:c.1040T>A	ENSP00000415036.2:p.Val347Glu
ENST00000497544.3:n.539T>A
ENST00000636397.1:c.923T>A	ENSP00000489910.1:p.Val308Glu
ENST00000636571.1:c.902T>A	ENSP00000490770.1:p.Val301Glu
ENST00000636615.1:c.923T>A	ENSP00000490014.1:p.Val308Glu
ENST00000636843.1:c.917T>A	ENSP00000490897.1:p.Val306Glu
ENST00000637158.1:n.521T>A
ENST00000637381.2:n.3351T>A
ENST00000637387.1:c.923T>A	ENSP00000490598.1:p.Val308Glu
ENST00000637815.2:c.905T>A	ENSP00000490344.1:p.Val302Glu
ENST00000637915.1:c.923T>A	ENSP00000490471.1:p.Val308Glu
ENST00000637937.1:n.231T>A
ENST00000678991.1:c.*784T>A	ENSP00000503019.1:n.*784T>A
ENST00000236671.6:c.923T>A	ENSP00000236671.2:p.Val308Glu
ENST00000427721.2:c.323T>A	ENSP00000415840.2:p.Val108Glu
ENST00000429746.1:c.254T>A	ENSP00000402586.1:p.Val85Glu
ENST00000433655.5:c.*89T>A	ENSP00000404902.1:n.*89T>A
ENST00000438213.5:c.878T>A	ENSP00000415036.1:p.Val293Glu
ENST00000497544.1:n.539T>A
NM_001909.4:c.923T>A	NP_001900.1:p.Val308Glu
NM_001909.5:c.923T>A MANE Select	NP_001900.1:p.Val308Glu