Canonical Allele Identifier: CA379092477

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1774809A>T (hg19) ; chr11:g.1753579A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753579A>T , CM000673.2:g.1753579A>T	GRCh38
NC_000011.9:g.1774809A>T , CM000673.1:g.1774809A>T	GRCh37
NC_000011.8:g.1731385A>T	NCBI36
NG_008655.1:g.15414T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1163T>A MANE Select	ENSP00000236671.2:p.Val388Asp
ENST00000367196.4:c.1058T>A	ENSP00000356164.4:p.Val353Asp
ENST00000427721.3:c.588T>A
ENST00000429746.2:c.1058T>A	ENSP00000402586.2:p.Val353Asp
ENST00000433655.6:c.*329T>A	ENSP00000404902.1:n.*329T>A
ENST00000438213.6:c.1280T>A	ENSP00000415036.2:p.Val427Asp
ENST00000636397.1:c.1071+224T>A	ENSP00000489910.1:n.1071+224T>A
ENST00000636571.1:c.1142T>A	ENSP00000490770.1:p.Val381Asp
ENST00000636579.1:c.72+224T>A	ENSP00000490489.1:n.72+224T>A
ENST00000636615.1:c.1071+224T>A	ENSP00000490014.1:n.1071+224T>A
ENST00000636843.1:c.1157T>A	ENSP00000490897.1:p.Val386Asp
ENST00000637158.1:n.761T>A
ENST00000637381.2:n.3591T>A
ENST00000637387.1:c.1142T>A	ENSP00000490598.1:p.Val381Asp
ENST00000637815.2:c.1145T>A	ENSP00000490344.1:p.Val382Asp
ENST00000637915.1:c.1154T>A	ENSP00000490471.1:p.Val385Asp
ENST00000637937.1:n.471T>A
ENST00000678991.1:c.*1024T>A	ENSP00000503019.1:n.*1024T>A
ENST00000236671.6:c.1163T>A	ENSP00000236671.2:p.Val388Asp
ENST00000427721.2:c.471+224T>A	ENSP00000415840.2:n.471+224T>A
ENST00000429746.1:c.494T>A	ENSP00000402586.1:p.Val165Asp
ENST00000433655.5:c.*329T>A	ENSP00000404902.1:n.*329T>A
NM_001909.4:c.1163T>A	NP_001900.1:p.Val388Asp
NM_001909.5:c.1163T>A MANE Select	NP_001900.1:p.Val388Asp