Canonical Allele Identifier: CA379093630

Gene: CTSD

Linked Data

• gnomAD v4: 11-1754020-C-A
• MyVariant Identifiers: chr11:g.1775250C>A (hg19) ; chr11:g.1754020C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1754020C>A , CM000673.2:g.1754020C>A	GRCh38
NC_000011.9:g.1775250C>A , CM000673.1:g.1775250C>A	GRCh37
NC_000011.8:g.1731826C>A	NCBI36
NG_008655.1:g.14973G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.946G>T MANE Select	ENSP00000236671.2:p.Gly316Trp
ENST00000367196.4:c.841G>T	ENSP00000356164.4:p.Gly281Trp
ENST00000427721.3:c.371G>T
ENST00000429746.2:c.841G>T	ENSP00000402586.2:p.Gly281Trp
ENST00000433655.6:c.*112G>T	ENSP00000404902.1:n.*112G>T
ENST00000438213.6:c.1063G>T	ENSP00000415036.2:p.Gly355Trp
ENST00000497544.3:n.562G>T
ENST00000636397.1:c.946G>T	ENSP00000489910.1:p.Gly316Trp
ENST00000636571.1:c.925G>T	ENSP00000490770.1:p.Gly309Trp
ENST00000636615.1:c.946G>T	ENSP00000490014.1:p.Gly316Trp
ENST00000636843.1:c.940G>T	ENSP00000490897.1:p.Gly314Trp
ENST00000637158.1:n.544G>T
ENST00000637381.2:n.3374G>T
ENST00000637387.1:c.946G>T	ENSP00000490598.1:p.Gly316Trp
ENST00000637815.2:c.928G>T	ENSP00000490344.1:p.Gly310Trp
ENST00000637915.1:c.946G>T	ENSP00000490471.1:p.Gly316Trp
ENST00000637937.1:n.254G>T
ENST00000678991.1:c.*807G>T	ENSP00000503019.1:n.*807G>T
ENST00000236671.6:c.946G>T	ENSP00000236671.2:p.Gly316Trp
ENST00000427721.2:c.346G>T	ENSP00000415840.2:p.Gly116Trp
ENST00000429746.1:c.277G>T	ENSP00000402586.1:p.Gly93Trp
ENST00000433655.5:c.*112G>T	ENSP00000404902.1:n.*112G>T
ENST00000497544.1:n.562G>T
NM_001909.4:c.946G>T	NP_001900.1:p.Gly316Trp
NM_001909.5:c.946G>T MANE Select	NP_001900.1:p.Gly316Trp