Canonical Allele Identifier: CA379092844

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1775037A>C (hg19) ; chr11:g.1753807A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753807A>C , CM000673.2:g.1753807A>C	GRCh38
NC_000011.9:g.1775037A>C , CM000673.1:g.1775037A>C	GRCh37
NC_000011.8:g.1731613A>C	NCBI36
NG_008655.1:g.15186T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1067T>G MANE Select	ENSP00000236671.2:p.Leu356Arg
ENST00000367196.4:c.962T>G	ENSP00000356164.4:p.Leu321Arg
ENST00000427721.3:c.492T>G
ENST00000429746.2:c.962T>G	ENSP00000402586.2:p.Leu321Arg
ENST00000433655.6:c.*233T>G	ENSP00000404902.1:n.*233T>G
ENST00000438213.6:c.1184T>G	ENSP00000415036.2:p.Leu395Arg
ENST00000497544.3:n.775T>G
ENST00000636397.1:c.1067T>G	ENSP00000489910.1:p.Leu356Arg
ENST00000636571.1:c.1046T>G	ENSP00000490770.1:p.Leu349Arg
ENST00000636579.1:c.68T>G	ENSP00000490489.1:p.Leu23Arg
ENST00000636615.1:c.1067T>G	ENSP00000490014.1:p.Leu356Arg
ENST00000636843.1:c.1061T>G	ENSP00000490897.1:p.Leu354Arg
ENST00000637158.1:n.665T>G
ENST00000637381.2:n.3495T>G
ENST00000637387.1:c.1046T>G	ENSP00000490598.1:p.Leu349Arg
ENST00000637815.2:c.1049T>G	ENSP00000490344.1:p.Leu350Arg
ENST00000637915.1:c.1067T>G	ENSP00000490471.1:p.Leu356Arg
ENST00000637937.1:n.375T>G
ENST00000678991.1:c.*928T>G	ENSP00000503019.1:n.*928T>G
ENST00000236671.6:c.1067T>G	ENSP00000236671.2:p.Leu356Arg
ENST00000427721.2:c.467T>G	ENSP00000415840.2:p.Leu156Arg
ENST00000429746.1:c.398T>G	ENSP00000402586.1:p.Leu133Arg
ENST00000433655.5:c.*233T>G	ENSP00000404902.1:n.*233T>G
ENST00000497544.1:n.775T>G
NM_001909.4:c.1067T>G	NP_001900.1:p.Leu356Arg
NM_001909.5:c.1067T>G MANE Select	NP_001900.1:p.Leu356Arg