Canonical Allele Identifier: CA379092633

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1774851T>A (hg19) ; chr11:g.1753621T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753621T>A , CM000673.2:g.1753621T>A	GRCh38
NC_000011.9:g.1774851T>A , CM000673.1:g.1774851T>A	GRCh37
NC_000011.8:g.1731427T>A	NCBI36
NG_008655.1:g.15372A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1121A>T MANE Select	ENSP00000236671.2:p.Asp374Val
ENST00000367196.4:c.1016A>T	ENSP00000356164.4:p.Asp339Val
ENST00000427721.3:c.546A>T
ENST00000429746.2:c.1016A>T	ENSP00000402586.2:p.Asp339Val
ENST00000433655.6:c.*287A>T	ENSP00000404902.1:n.*287A>T
ENST00000438213.6:c.1238A>T	ENSP00000415036.2:p.Asp413Val
ENST00000636397.1:c.1071+182A>T	ENSP00000489910.1:n.1071+182A>T
ENST00000636571.1:c.1100A>T	ENSP00000490770.1:p.Asp367Val
ENST00000636579.1:c.72+182A>T	ENSP00000490489.1:n.72+182A>T
ENST00000636615.1:c.1071+182A>T	ENSP00000490014.1:n.1071+182A>T
ENST00000636843.1:c.1115A>T	ENSP00000490897.1:p.Asp372Val
ENST00000637158.1:n.719A>T
ENST00000637381.2:n.3549A>T
ENST00000637387.1:c.1100A>T	ENSP00000490598.1:p.Asp367Val
ENST00000637815.2:c.1103A>T	ENSP00000490344.1:p.Asp368Val
ENST00000637915.1:c.1112A>T	ENSP00000490471.1:p.Asp371Val
ENST00000637937.1:n.429A>T
ENST00000678991.1:c.*982A>T	ENSP00000503019.1:n.*982A>T
ENST00000236671.6:c.1121A>T	ENSP00000236671.2:p.Asp374Val
ENST00000427721.2:c.471+182A>T	ENSP00000415840.2:n.471+182A>T
ENST00000429746.1:c.452A>T	ENSP00000402586.1:p.Asp151Val
ENST00000433655.5:c.*287A>T	ENSP00000404902.1:n.*287A>T
NM_001909.4:c.1121A>T	NP_001900.1:p.Asp374Val
NM_001909.5:c.1121A>T MANE Select	NP_001900.1:p.Asp374Val