Canonical Allele Identifier: CA379093218

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1775083T>A (hg19) ; chr11:g.1753853T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753853T>A , CM000673.2:g.1753853T>A	GRCh38
NC_000011.9:g.1775083T>A , CM000673.1:g.1775083T>A	GRCh37
NC_000011.8:g.1731659T>A	NCBI36
NG_008655.1:g.15140A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1021A>T MANE Select	ENSP00000236671.2:p.Lys341Ter
ENST00000367196.4:c.916A>T	ENSP00000356164.4:p.Lys306Ter
ENST00000427721.3:c.446A>T
ENST00000429746.2:c.916A>T	ENSP00000402586.2:p.Lys306Ter
ENST00000433655.6:c.*187A>T	ENSP00000404902.1:n.*187A>T
ENST00000438213.6:c.1138A>T	ENSP00000415036.2:p.Lys380Ter
ENST00000497544.3:n.729A>T
ENST00000636397.1:c.1021A>T	ENSP00000489910.1:p.Lys341Ter
ENST00000636571.1:c.1000A>T	ENSP00000490770.1:p.Lys334Ter
ENST00000636579.1:c.22A>T	ENSP00000490489.1:p.Lys8Ter
ENST00000636615.1:c.1021A>T	ENSP00000490014.1:p.Lys341Ter
ENST00000636843.1:c.1015A>T	ENSP00000490897.1:p.Lys339Ter
ENST00000637158.1:n.619A>T
ENST00000637381.2:n.3449A>T
ENST00000637387.1:c.1000A>T	ENSP00000490598.1:p.Lys334Ter
ENST00000637815.2:c.1003A>T	ENSP00000490344.1:p.Lys335Ter
ENST00000637915.1:c.1021A>T	ENSP00000490471.1:p.Lys341Ter
ENST00000637937.1:n.329A>T
ENST00000678991.1:c.*882A>T	ENSP00000503019.1:n.*882A>T
ENST00000236671.6:c.1021A>T	ENSP00000236671.2:p.Lys341Ter
ENST00000427721.2:c.421A>T	ENSP00000415840.2:p.Lys141Ter
ENST00000429746.1:c.352A>T	ENSP00000402586.1:p.Lys118Ter
ENST00000433655.5:c.*187A>T	ENSP00000404902.1:n.*187A>T
ENST00000497544.1:n.729A>T
NM_001909.4:c.1021A>T	NP_001900.1:p.Lys341Ter
NM_001909.5:c.1021A>T MANE Select	NP_001900.1:p.Lys341Ter