Canonical Allele Identifier: CA379092586

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1774839G>T (hg19) ; chr11:g.1753609G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753609G>T , CM000673.2:g.1753609G>T	GRCh38
NC_000011.9:g.1774839G>T , CM000673.1:g.1774839G>T	GRCh37
NC_000011.8:g.1731415G>T	NCBI36
NG_008655.1:g.15384C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.1133C>A MANE Select	ENSP00000236671.2:p.Pro378His
ENST00000367196.4:c.1028C>A	ENSP00000356164.4:p.Pro343His
ENST00000427721.3:c.558C>A
ENST00000429746.2:c.1028C>A	ENSP00000402586.2:p.Pro343His
ENST00000433655.6:c.*299C>A	ENSP00000404902.1:n.*299C>A
ENST00000438213.6:c.1250C>A	ENSP00000415036.2:p.Pro417His
ENST00000636397.1:c.1071+194C>A	ENSP00000489910.1:n.1071+194C>A
ENST00000636571.1:c.1112C>A	ENSP00000490770.1:p.Pro371His
ENST00000636579.1:c.72+194C>A	ENSP00000490489.1:n.72+194C>A
ENST00000636615.1:c.1071+194C>A	ENSP00000490014.1:n.1071+194C>A
ENST00000636843.1:c.1127C>A	ENSP00000490897.1:p.Pro376His
ENST00000637158.1:n.731C>A
ENST00000637381.2:n.3561C>A
ENST00000637387.1:c.1112C>A	ENSP00000490598.1:p.Pro371His
ENST00000637815.2:c.1115C>A	ENSP00000490344.1:p.Pro372His
ENST00000637915.1:c.1124C>A	ENSP00000490471.1:p.Pro375His
ENST00000637937.1:n.441C>A
ENST00000678991.1:c.*994C>A	ENSP00000503019.1:n.*994C>A
ENST00000236671.6:c.1133C>A	ENSP00000236671.2:p.Pro378His
ENST00000427721.2:c.471+194C>A	ENSP00000415840.2:n.471+194C>A
ENST00000429746.1:c.464C>A	ENSP00000402586.1:p.Pro155His
ENST00000433655.5:c.*299C>A	ENSP00000404902.1:n.*299C>A
NM_001909.4:c.1133C>A	NP_001900.1:p.Pro378His
NM_001909.5:c.1133C>A MANE Select	NP_001900.1:p.Pro378His