Canonical Allele Identifier: CA379093221

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1775085A>C (hg19) ; chr11:g.1753855A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753855A>C , CM000673.2:g.1753855A>C	GRCh38
NC_000011.9:g.1775085A>C , CM000673.1:g.1775085A>C	GRCh37
NC_000011.8:g.1731661A>C	NCBI36
NG_008655.1:g.15138T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1019T>G MANE Select	ENSP00000236671.2:p.Leu340Arg
ENST00000367196.4:c.914T>G	ENSP00000356164.4:p.Leu305Arg
ENST00000427721.3:c.444T>G
ENST00000429746.2:c.914T>G	ENSP00000402586.2:p.Leu305Arg
ENST00000433655.6:c.*185T>G	ENSP00000404902.1:n.*185T>G
ENST00000438213.6:c.1136T>G	ENSP00000415036.2:p.Leu379Arg
ENST00000497544.3:n.727T>G
ENST00000636397.1:c.1019T>G	ENSP00000489910.1:p.Leu340Arg
ENST00000636571.1:c.998T>G	ENSP00000490770.1:p.Leu333Arg
ENST00000636579.1:c.20T>G	ENSP00000490489.1:p.Leu7Arg
ENST00000636615.1:c.1019T>G	ENSP00000490014.1:p.Leu340Arg
ENST00000636843.1:c.1013T>G	ENSP00000490897.1:p.Leu338Arg
ENST00000637158.1:n.617T>G
ENST00000637381.2:n.3447T>G
ENST00000637387.1:c.998T>G	ENSP00000490598.1:p.Leu333Arg
ENST00000637815.2:c.1001T>G	ENSP00000490344.1:p.Leu334Arg
ENST00000637915.1:c.1019T>G	ENSP00000490471.1:p.Leu340Arg
ENST00000637937.1:n.327T>G
ENST00000678991.1:c.*880T>G	ENSP00000503019.1:n.*880T>G
ENST00000236671.6:c.1019T>G	ENSP00000236671.2:p.Leu340Arg
ENST00000427721.2:c.419T>G	ENSP00000415840.2:p.Leu140Arg
ENST00000429746.1:c.350T>G	ENSP00000402586.1:p.Leu117Arg
ENST00000433655.5:c.*185T>G	ENSP00000404902.1:n.*185T>G
ENST00000497544.1:n.727T>G
NM_001909.4:c.1019T>G	NP_001900.1:p.Leu340Arg
NM_001909.5:c.1019T>G MANE Select	NP_001900.1:p.Leu340Arg