Canonical Allele Identifier: CA472140345

Gene: CTSD

Linked Data

• ClinVar Variation Id: 1649211
• ClinVar RCV Id: RCV002144185
• dbSNP Id: rs1845760192
• gnomAD v4: 11-1753857-T-C
• MyVariant Identifiers: chr11:g.1775087T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753857T>C , CM000673.2:g.1753857T>C	GRCh38
NC_000011.9:g.1775087T>C , CM000673.1:g.1775087T>C	GRCh37
NC_000011.8:g.1731663T>C	NCBI36
NG_008655.1:g.15136A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1017A>G MANE Select	ENSP00000236671.2:p.Thr339=
ENST00000367196.4:c.912A>G	ENSP00000356164.4:p.Thr304=
ENST00000427721.3:c.442A>G
ENST00000429746.2:c.912A>G	ENSP00000402586.2:p.Thr304=
ENST00000433655.6:c.*183A>G	ENSP00000404902.1:n.*183A>G
ENST00000438213.6:c.1134A>G	ENSP00000415036.2:p.Thr378=
ENST00000497544.3:n.725A>G
ENST00000636397.1:c.1017A>G	ENSP00000489910.1:p.Thr339=
ENST00000636571.1:c.996A>G	ENSP00000490770.1:p.Thr332=
ENST00000636579.1:c.18A>G	ENSP00000490489.1:p.Thr6=
ENST00000636615.1:c.1017A>G	ENSP00000490014.1:p.Thr339=
ENST00000636843.1:c.1011A>G	ENSP00000490897.1:p.Thr337=
ENST00000637158.1:n.615A>G
ENST00000637381.2:n.3445A>G
ENST00000637387.1:c.996A>G	ENSP00000490598.1:p.Thr332=
ENST00000637815.2:c.999A>G	ENSP00000490344.1:p.Thr333=
ENST00000637915.1:c.1017A>G	ENSP00000490471.1:p.Thr339=
ENST00000637937.1:n.325A>G
ENST00000678991.1:c.*878A>G	ENSP00000503019.1:n.*878A>G
ENST00000236671.6:c.1017A>G	ENSP00000236671.2:p.Thr339=
ENST00000427721.2:c.417A>G	ENSP00000415840.2:p.Thr139=
ENST00000429746.1:c.348A>G	ENSP00000402586.1:p.Thr116=
ENST00000433655.5:c.*183A>G	ENSP00000404902.1:n.*183A>G
ENST00000497544.1:n.725A>G
NM_001909.4:c.1017A>G	NP_001900.1:p.Thr339=
NM_001909.5:c.1017A>G MANE Select	NP_001900.1:p.Thr339=