Canonical Allele Identifier: CA379098057

Gene: CTSD

Linked Data

• gnomAD v4: 11-1759533-A-C
• MyVariant Identifiers: chr11:g.1780763A>C (hg19) ; chr11:g.1759533A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1759533A>C , CM000673.2:g.1759533A>C	GRCh38
NC_000011.9:g.1780763A>C , CM000673.1:g.1780763A>C	GRCh37
NC_000011.8:g.1737339A>C	NCBI36
NG_008655.1:g.9460T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.335T>G MANE Select	ENSP00000236671.2:p.Leu112Arg
ENST00000367196.4:c.230T>G	ENSP00000356164.4:p.Leu77Arg
ENST00000429746.2:c.230T>G	ENSP00000402586.2:p.Leu77Arg
ENST00000433655.6:c.335T>G	ENSP00000404902.1:p.Leu112Arg
ENST00000438213.6:c.335T>G	ENSP00000415036.2:p.Leu112Arg
ENST00000636397.1:c.335T>G	ENSP00000489910.1:p.Leu112Arg
ENST00000636571.1:c.314T>G	ENSP00000490770.1:p.Leu105Arg
ENST00000636615.1:c.335T>G	ENSP00000490014.1:p.Leu112Arg
ENST00000636843.1:c.329T>G	ENSP00000490897.1:p.Leu110Arg
ENST00000637381.2:n.2763T>G
ENST00000637387.1:c.335T>G	ENSP00000490598.1:p.Leu112Arg
ENST00000637815.2:c.335T>G	ENSP00000490344.1:p.Leu112Arg
ENST00000637915.1:c.335T>G	ENSP00000490471.1:p.Leu112Arg
ENST00000677300.1:n.730T>G
ENST00000678991.1:c.*196T>G	ENSP00000503019.1:n.*196T>G
ENST00000236671.6:c.335T>G	ENSP00000236671.2:p.Leu112Arg
ENST00000367196.3:c.230T>G	ENSP00000356164.3:p.Leu77Arg
ENST00000433655.5:c.335T>G	ENSP00000404902.1:p.Leu112Arg
ENST00000438213.5:c.290T>G	ENSP00000415036.1:p.Leu97Arg
NM_001909.4:c.335T>G	NP_001900.1:p.Leu112Arg
NM_001909.5:c.335T>G MANE Select	NP_001900.1:p.Leu112Arg