Canonical Allele Identifier: CA379093778

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1775276T>A (hg19) ; chr11:g.1754046T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1754046T>A , CM000673.2:g.1754046T>A	GRCh38
NC_000011.9:g.1775276T>A , CM000673.1:g.1775276T>A	GRCh37
NC_000011.8:g.1731852T>A	NCBI36
NG_008655.1:g.14947A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.920A>T MANE Select	ENSP00000236671.2:p.Glu307Val
ENST00000367196.4:c.815A>T	ENSP00000356164.4:p.Glu272Val
ENST00000427721.3:c.345A>T
ENST00000429746.2:c.815A>T	ENSP00000402586.2:p.Glu272Val
ENST00000433655.6:c.*86A>T	ENSP00000404902.1:n.*86A>T
ENST00000438213.6:c.1037A>T	ENSP00000415036.2:p.Glu346Val
ENST00000497544.3:n.536A>T
ENST00000636397.1:c.920A>T	ENSP00000489910.1:p.Glu307Val
ENST00000636571.1:c.899A>T	ENSP00000490770.1:p.Glu300Val
ENST00000636615.1:c.920A>T	ENSP00000490014.1:p.Glu307Val
ENST00000636843.1:c.914A>T	ENSP00000490897.1:p.Glu305Val
ENST00000637158.1:n.518A>T
ENST00000637381.2:n.3348A>T
ENST00000637387.1:c.920A>T	ENSP00000490598.1:p.Glu307Val
ENST00000637815.2:c.902A>T	ENSP00000490344.1:p.Glu301Val
ENST00000637915.1:c.920A>T	ENSP00000490471.1:p.Glu307Val
ENST00000637937.1:n.228A>T
ENST00000678991.1:c.*781A>T	ENSP00000503019.1:n.*781A>T
ENST00000236671.6:c.920A>T	ENSP00000236671.2:p.Glu307Val
ENST00000427721.2:c.320A>T	ENSP00000415840.2:p.Glu107Val
ENST00000429746.1:c.251A>T	ENSP00000402586.1:p.Glu84Val
ENST00000433655.5:c.*86A>T	ENSP00000404902.1:n.*86A>T
ENST00000438213.5:c.875A>T	ENSP00000415036.1:p.Glu292Val
ENST00000497544.1:n.536A>T
NM_001909.4:c.920A>T	NP_001900.1:p.Glu307Val
NM_001909.5:c.920A>T MANE Select	NP_001900.1:p.Glu307Val