Canonical Allele Identifier: CA379092540

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1774825A>T (hg19) ; chr11:g.1753595A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753595A>T , CM000673.2:g.1753595A>T	GRCh38
NC_000011.9:g.1774825A>T , CM000673.1:g.1774825A>T	GRCh37
NC_000011.8:g.1731401A>T	NCBI36
NG_008655.1:g.15398T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1147T>A MANE Select	ENSP00000236671.2:p.Trp383Arg
ENST00000367196.4:c.1042T>A	ENSP00000356164.4:p.Trp348Arg
ENST00000427721.3:c.572T>A
ENST00000429746.2:c.1042T>A	ENSP00000402586.2:p.Trp348Arg
ENST00000433655.6:c.*313T>A	ENSP00000404902.1:n.*313T>A
ENST00000438213.6:c.1264T>A	ENSP00000415036.2:p.Trp422Arg
ENST00000636397.1:c.1071+208T>A	ENSP00000489910.1:n.1071+208T>A
ENST00000636571.1:c.1126T>A	ENSP00000490770.1:p.Trp376Arg
ENST00000636579.1:c.72+208T>A	ENSP00000490489.1:n.72+208T>A
ENST00000636615.1:c.1071+208T>A	ENSP00000490014.1:n.1071+208T>A
ENST00000636843.1:c.1141T>A	ENSP00000490897.1:p.Trp381Arg
ENST00000637158.1:n.745T>A
ENST00000637381.2:n.3575T>A
ENST00000637387.1:c.1126T>A	ENSP00000490598.1:p.Trp376Arg
ENST00000637815.2:c.1129T>A	ENSP00000490344.1:p.Trp377Arg
ENST00000637915.1:c.1138T>A	ENSP00000490471.1:p.Trp380Arg
ENST00000637937.1:n.455T>A
ENST00000678991.1:c.*1008T>A	ENSP00000503019.1:n.*1008T>A
ENST00000236671.6:c.1147T>A	ENSP00000236671.2:p.Trp383Arg
ENST00000427721.2:c.471+208T>A	ENSP00000415840.2:n.471+208T>A
ENST00000429746.1:c.478T>A	ENSP00000402586.1:p.Trp160Arg
ENST00000433655.5:c.*313T>A	ENSP00000404902.1:n.*313T>A
NM_001909.4:c.1147T>A	NP_001900.1:p.Trp383Arg
NM_001909.5:c.1147T>A MANE Select	NP_001900.1:p.Trp383Arg