Canonical Allele Identifier: CA5814295

Gene: CTSD

Linked Data

• ClinVar Variation Id: 2188717
• ClinVar RCV Id: RCV002620441
• dbSNP Id: rs758822108
• ExAC: 11:1782670 G / A
• gnomAD v2: 11-1782670-G-A
• gnomAD v3: 11-1761440-G-A
• gnomAD v4: 11-1761440-G-A
• COSMIC: COSM5838273
• MyVariant Identifiers: chr11:g.1782670G>A (hg19) ; chr11:g.1761440G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1761440G>A , CM000673.2:g.1761440G>A	GRCh38
NC_000011.9:g.1782670G>A , CM000673.1:g.1782670G>A	GRCh37
NC_000011.8:g.1739246G>A	NCBI36
NG_008655.1:g.7553C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.97C>T MANE Select	ENSP00000236671.2:p.Arg33Cys
ENST00000367196.4:c.-9C>T	ENSP00000356164.4:n.-9C>T
ENST00000429746.2:c.-9C>T	ENSP00000402586.2:n.-9C>T
ENST00000433655.6:c.97C>T	ENSP00000404902.1:p.Arg33Cys
ENST00000438213.6:c.97C>T	ENSP00000415036.2:p.Arg33Cys
ENST00000636397.1:c.97C>T	ENSP00000489910.1:p.Arg33Cys
ENST00000636571.1:c.97C>T	ENSP00000490770.1:p.Arg33Cys
ENST00000636615.1:c.97C>T	ENSP00000490014.1:p.Arg33Cys
ENST00000636843.1:c.97C>T	ENSP00000490897.1:p.Arg33Cys
ENST00000637381.2:n.2525C>T
ENST00000637387.1:c.97C>T	ENSP00000490598.1:p.Arg33Cys
ENST00000637815.2:c.97C>T	ENSP00000490344.1:p.Arg33Cys
ENST00000637915.1:c.97C>T	ENSP00000490471.1:p.Arg33Cys
ENST00000678991.1:c.240C>T	ENSP00000503019.1:p.Ser80=
ENST00000236671.6:c.97C>T	ENSP00000236671.2:p.Arg33Cys
ENST00000367196.3:c.-9C>T	ENSP00000356164.3:n.-9C>T
ENST00000433655.5:c.97C>T	ENSP00000404902.1:p.Arg33Cys
ENST00000438213.5:c.52C>T	ENSP00000415036.1:p.Arg18Cys
NM_001909.4:c.97C>T	NP_001900.1:p.Arg33Cys
NM_001909.5:c.97C>T MANE Select	NP_001900.1:p.Arg33Cys