Canonical Allele Identifier: CA379093731

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1775264A>C (hg19) ; chr11:g.1754034A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1754034A>C , CM000673.2:g.1754034A>C	GRCh38
NC_000011.9:g.1775264A>C , CM000673.1:g.1775264A>C	GRCh37
NC_000011.8:g.1731840A>C	NCBI36
NG_008655.1:g.14959T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.932T>G MANE Select	ENSP00000236671.2:p.Leu311Arg
ENST00000367196.4:c.827T>G	ENSP00000356164.4:p.Leu276Arg
ENST00000427721.3:c.357T>G
ENST00000429746.2:c.827T>G	ENSP00000402586.2:p.Leu276Arg
ENST00000433655.6:c.*98T>G	ENSP00000404902.1:n.*98T>G
ENST00000438213.6:c.1049T>G	ENSP00000415036.2:p.Leu350Arg
ENST00000497544.3:n.548T>G
ENST00000636397.1:c.932T>G	ENSP00000489910.1:p.Leu311Arg
ENST00000636571.1:c.911T>G	ENSP00000490770.1:p.Leu304Arg
ENST00000636615.1:c.932T>G	ENSP00000490014.1:p.Leu311Arg
ENST00000636843.1:c.926T>G	ENSP00000490897.1:p.Leu309Arg
ENST00000637158.1:n.530T>G
ENST00000637381.2:n.3360T>G
ENST00000637387.1:c.932T>G	ENSP00000490598.1:p.Leu311Arg
ENST00000637815.2:c.914T>G	ENSP00000490344.1:p.Leu305Arg
ENST00000637915.1:c.932T>G	ENSP00000490471.1:p.Leu311Arg
ENST00000637937.1:n.240T>G
ENST00000678991.1:c.*793T>G	ENSP00000503019.1:n.*793T>G
ENST00000236671.6:c.932T>G	ENSP00000236671.2:p.Leu311Arg
ENST00000427721.2:c.332T>G	ENSP00000415840.2:p.Leu111Arg
ENST00000429746.1:c.263T>G	ENSP00000402586.1:p.Leu88Arg
ENST00000433655.5:c.*98T>G	ENSP00000404902.1:n.*98T>G
ENST00000438213.5:c.887T>G	ENSP00000415036.1:p.Leu296Arg
ENST00000497544.1:n.548T>G
NM_001909.4:c.932T>G	NP_001900.1:p.Leu311Arg
NM_001909.5:c.932T>G MANE Select	NP_001900.1:p.Leu311Arg