Canonical Allele Identifier: CA472139330

Gene: CTSD

Linked Data

• ClinVar Variation Id: 588338
• ClinVar RCV Id: RCV002314432 ; RCV003647799
• dbSNP Id: rs1565018392
• gnomAD v4: 11-1753506-G-C
• MyVariant Identifiers: chr11:g.1774736G>C (hg19) ; chr11:g.1753506G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753506G>C , CM000673.2:g.1753506G>C	GRCh38
NC_000011.9:g.1774736G>C , CM000673.1:g.1774736G>C	GRCh37
NC_000011.8:g.1731312G>C	NCBI36
NG_008655.1:g.15487C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.1236C>G MANE Select	ENSP00000236671.2:p.Leu412=
ENST00000367196.4:c.1131C>G	ENSP00000356164.4:p.Leu377=
ENST00000427721.3:c.634+27C>G
ENST00000429746.2:c.1131C>G	ENSP00000402586.2:p.Leu377=
ENST00000433655.6:c.*402C>G	ENSP00000404902.1:n.*402C>G
ENST00000438213.6:c.1353C>G	ENSP00000415036.2:p.Leu451=
ENST00000636397.1:c.1071+297C>G	ENSP00000489910.1:n.1071+297C>G
ENST00000636571.1:c.1215C>G	ENSP00000490770.1:p.Leu405=
ENST00000636579.1:c.72+297C>G	ENSP00000490489.1:n.72+297C>G
ENST00000636615.1:c.1071+297C>G	ENSP00000490014.1:n.1071+297C>G
ENST00000636843.1:c.1230C>G	ENSP00000490897.1:p.Leu410=
ENST00000637158.1:n.834C>G
ENST00000637381.2:n.3664C>G
ENST00000637387.1:c.1215C>G	ENSP00000490598.1:p.Leu405=
ENST00000637815.2:c.1218C>G	ENSP00000490344.1:p.Leu406=
ENST00000637915.1:c.1227C>G	ENSP00000490471.1:p.Leu409=
ENST00000637937.1:n.544C>G
ENST00000678991.1:c.*1097C>G	ENSP00000503019.1:n.*1097C>G
ENST00000236671.6:c.1236C>G	ENSP00000236671.2:p.Leu412=
ENST00000427721.2:c.471+297C>G	ENSP00000415840.2:n.471+297C>G
ENST00000429746.1:c.567C>G	ENSP00000402586.1:p.Leu189=
ENST00000433655.5:c.*402C>G	ENSP00000404902.1:n.*402C>G
NM_001909.4:c.1236C>G	NP_001900.1:p.Leu412=
NM_001909.5:c.1236C>G MANE Select	NP_001900.1:p.Leu412=