Canonical Allele Identifier: CA379092440

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1774800C>A (hg19) ; chr11:g.1753570C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753570C>A , CM000673.2:g.1753570C>A	GRCh38
NC_000011.9:g.1774800C>A , CM000673.1:g.1774800C>A	GRCh37
NC_000011.8:g.1731376C>A	NCBI36
NG_008655.1:g.15423G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1172G>T MANE Select	ENSP00000236671.2:p.Gly391Val
ENST00000367196.4:c.1067G>T	ENSP00000356164.4:p.Gly356Val
ENST00000427721.3:c.597G>T
ENST00000429746.2:c.1067G>T	ENSP00000402586.2:p.Gly356Val
ENST00000433655.6:c.*338G>T	ENSP00000404902.1:n.*338G>T
ENST00000438213.6:c.1289G>T	ENSP00000415036.2:p.Gly430Val
ENST00000636397.1:c.1071+233G>T	ENSP00000489910.1:n.1071+233G>T
ENST00000636571.1:c.1151G>T	ENSP00000490770.1:p.Gly384Val
ENST00000636579.1:c.72+233G>T	ENSP00000490489.1:n.72+233G>T
ENST00000636615.1:c.1071+233G>T	ENSP00000490014.1:n.1071+233G>T
ENST00000636843.1:c.1166G>T	ENSP00000490897.1:p.Gly389Val
ENST00000637158.1:n.770G>T
ENST00000637381.2:n.3600G>T
ENST00000637387.1:c.1151G>T	ENSP00000490598.1:p.Gly384Val
ENST00000637815.2:c.1154G>T	ENSP00000490344.1:p.Gly385Val
ENST00000637915.1:c.1163G>T	ENSP00000490471.1:p.Gly388Val
ENST00000637937.1:n.480G>T
ENST00000678991.1:c.*1033G>T	ENSP00000503019.1:n.*1033G>T
ENST00000236671.6:c.1172G>T	ENSP00000236671.2:p.Gly391Val
ENST00000427721.2:c.471+233G>T	ENSP00000415840.2:n.471+233G>T
ENST00000429746.1:c.503G>T	ENSP00000402586.1:p.Gly168Val
ENST00000433655.5:c.*338G>T	ENSP00000404902.1:n.*338G>T
NM_001909.4:c.1172G>T	NP_001900.1:p.Gly391Val
NM_001909.5:c.1172G>T MANE Select	NP_001900.1:p.Gly391Val