Canonical Allele Identifier: CA379098506

Gene: CTSD

Linked Data

• ClinVar Variation Id: 1396731
• ClinVar RCV Id: RCV001903138
• dbSNP Id: rs1845850566
• gnomAD v4: 11-1759612-C-T
• MyVariant Identifiers: chr11:g.1780842C>T (hg19) ; chr11:g.1759612C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1759612C>T , CM000673.2:g.1759612C>T	GRCh38
NC_000011.9:g.1780842C>T , CM000673.1:g.1780842C>T	GRCh37
NC_000011.8:g.1737418C>T	NCBI36
NG_008655.1:g.9381G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.256G>A MANE Select	ENSP00000236671.2:p.Gly86Arg
ENST00000367196.4:c.151G>A	ENSP00000356164.4:p.Gly51Arg
ENST00000429746.2:c.151G>A	ENSP00000402586.2:p.Gly51Arg
ENST00000433655.6:c.256G>A	ENSP00000404902.1:p.Gly86Arg
ENST00000438213.6:c.256G>A	ENSP00000415036.2:p.Gly86Arg
ENST00000636397.1:c.256G>A	ENSP00000489910.1:p.Gly86Arg
ENST00000636571.1:c.235G>A	ENSP00000490770.1:p.Gly79Arg
ENST00000636615.1:c.256G>A	ENSP00000490014.1:p.Gly86Arg
ENST00000636843.1:c.250G>A	ENSP00000490897.1:p.Gly84Arg
ENST00000637381.2:n.2684G>A
ENST00000637387.1:c.256G>A	ENSP00000490598.1:p.Gly86Arg
ENST00000637815.2:c.256G>A	ENSP00000490344.1:p.Gly86Arg
ENST00000637915.1:c.256G>A	ENSP00000490471.1:p.Gly86Arg
ENST00000677300.1:n.651G>A
ENST00000678991.1:c.*117G>A	ENSP00000503019.1:n.*117G>A
ENST00000236671.6:c.256G>A	ENSP00000236671.2:p.Gly86Arg
ENST00000367196.3:c.151G>A	ENSP00000356164.3:p.Gly51Arg
ENST00000433655.5:c.256G>A	ENSP00000404902.1:p.Gly86Arg
ENST00000438213.5:c.211G>A	ENSP00000415036.1:p.Gly71Arg
NM_001909.4:c.256G>A	NP_001900.1:p.Gly86Arg
NM_001909.5:c.256G>A MANE Select	NP_001900.1:p.Gly86Arg