Canonical Allele Identifier: CA379092525

Gene: CTSD

Linked Data

• gnomAD v4: 11-1753592-T-A
• MyVariant Identifiers: chr11:g.1774822T>A (hg19) ; chr11:g.1753592T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753592T>A , CM000673.2:g.1753592T>A	GRCh38
NC_000011.9:g.1774822T>A , CM000673.1:g.1774822T>A	GRCh37
NC_000011.8:g.1731398T>A	NCBI36
NG_008655.1:g.15401A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1150A>T MANE Select	ENSP00000236671.2:p.Ile384Phe
ENST00000367196.4:c.1045A>T	ENSP00000356164.4:p.Ile349Phe
ENST00000427721.3:c.575A>T
ENST00000429746.2:c.1045A>T	ENSP00000402586.2:p.Ile349Phe
ENST00000433655.6:c.*316A>T	ENSP00000404902.1:n.*316A>T
ENST00000438213.6:c.1267A>T	ENSP00000415036.2:p.Ile423Phe
ENST00000636397.1:c.1071+211A>T	ENSP00000489910.1:n.1071+211A>T
ENST00000636571.1:c.1129A>T	ENSP00000490770.1:p.Ile377Phe
ENST00000636579.1:c.72+211A>T	ENSP00000490489.1:n.72+211A>T
ENST00000636615.1:c.1071+211A>T	ENSP00000490014.1:n.1071+211A>T
ENST00000636843.1:c.1144A>T	ENSP00000490897.1:p.Ile382Phe
ENST00000637158.1:n.748A>T
ENST00000637381.2:n.3578A>T
ENST00000637387.1:c.1129A>T	ENSP00000490598.1:p.Ile377Phe
ENST00000637815.2:c.1132A>T	ENSP00000490344.1:p.Ile378Phe
ENST00000637915.1:c.1141A>T	ENSP00000490471.1:p.Ile381Phe
ENST00000637937.1:n.458A>T
ENST00000678991.1:c.*1011A>T	ENSP00000503019.1:n.*1011A>T
ENST00000236671.6:c.1150A>T	ENSP00000236671.2:p.Ile384Phe
ENST00000427721.2:c.471+211A>T	ENSP00000415840.2:n.471+211A>T
ENST00000429746.1:c.481A>T	ENSP00000402586.1:p.Ile161Phe
ENST00000433655.5:c.*316A>T	ENSP00000404902.1:n.*316A>T
NM_001909.4:c.1150A>T	NP_001900.1:p.Ile384Phe
NM_001909.5:c.1150A>T MANE Select	NP_001900.1:p.Ile384Phe