Canonical Allele Identifier: CA379093760

Gene: CTSD

Linked Data

• dbSNP Id: rs1381606917
• gnomAD v2: 11-1775271-G-A
• gnomAD v3: 11-1754041-G-A
• gnomAD v4: 11-1754041-G-A
• COSMIC: COSM2092150
• MyVariant Identifiers: chr11:g.1775271G>A (hg19) ; chr11:g.1754041G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1754041G>A , CM000673.2:g.1754041G>A	GRCh38
NC_000011.9:g.1775271G>A , CM000673.1:g.1775271G>A	GRCh37
NC_000011.8:g.1731847G>A	NCBI36
NG_008655.1:g.14952C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.925C>T MANE Select	ENSP00000236671.2:p.Arg309Cys
ENST00000367196.4:c.820C>T	ENSP00000356164.4:p.Arg274Cys
ENST00000427721.3:c.350C>T
ENST00000429746.2:c.820C>T	ENSP00000402586.2:p.Arg274Cys
ENST00000433655.6:c.*91C>T	ENSP00000404902.1:n.*91C>T
ENST00000438213.6:c.1042C>T	ENSP00000415036.2:p.Arg348Cys
ENST00000497544.3:n.541C>T
ENST00000636397.1:c.925C>T	ENSP00000489910.1:p.Arg309Cys
ENST00000636571.1:c.904C>T	ENSP00000490770.1:p.Arg302Cys
ENST00000636615.1:c.925C>T	ENSP00000490014.1:p.Arg309Cys
ENST00000636843.1:c.919C>T	ENSP00000490897.1:p.Arg307Cys
ENST00000637158.1:n.523C>T
ENST00000637381.2:n.3353C>T
ENST00000637387.1:c.925C>T	ENSP00000490598.1:p.Arg309Cys
ENST00000637815.2:c.907C>T	ENSP00000490344.1:p.Arg303Cys
ENST00000637915.1:c.925C>T	ENSP00000490471.1:p.Arg309Cys
ENST00000637937.1:n.233C>T
ENST00000678991.1:c.*786C>T	ENSP00000503019.1:n.*786C>T
ENST00000236671.6:c.925C>T	ENSP00000236671.2:p.Arg309Cys
ENST00000427721.2:c.325C>T	ENSP00000415840.2:p.Arg109Cys
ENST00000429746.1:c.256C>T	ENSP00000402586.1:p.Arg86Cys
ENST00000433655.5:c.*91C>T	ENSP00000404902.1:n.*91C>T
ENST00000438213.5:c.880C>T	ENSP00000415036.1:p.Arg294Cys
ENST00000497544.1:n.541C>T
NM_001909.4:c.925C>T	NP_001900.1:p.Arg309Cys
NM_001909.5:c.925C>T MANE Select	NP_001900.1:p.Arg309Cys