Canonical Allele Identifier: CA379092783

Gene: CTSD

Linked Data

• ClinVar Variation Id: 1478063
• ClinVar RCV Id: RCV001998512
• dbSNP Id: rs2133657278
• MyVariant Identifiers: chr11:g.1774892C>G (hg19) ; chr11:g.1753662C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753662C>G , CM000673.2:g.1753662C>G	GRCh38
NC_000011.9:g.1774892C>G , CM000673.1:g.1774892C>G	GRCh37
NC_000011.8:g.1731468C>G	NCBI36
NG_008655.1:g.15331G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1080G>C MANE Select	ENSP00000236671.2:p.Gln360His
ENST00000367196.4:c.975G>C	ENSP00000356164.4:p.Gln325His
ENST00000427721.3:c.505G>C
ENST00000429746.2:c.975G>C	ENSP00000402586.2:p.Gln325His
ENST00000433655.6:c.*246G>C	ENSP00000404902.1:n.*246G>C
ENST00000438213.6:c.1197G>C	ENSP00000415036.2:p.Gln399His
ENST00000497544.3:n.788G>C
ENST00000636397.1:c.1071+141G>C	ENSP00000489910.1:n.1071+141G>C
ENST00000636571.1:c.1059G>C	ENSP00000490770.1:p.Gln353His
ENST00000636579.1:c.72+141G>C	ENSP00000490489.1:n.72+141G>C
ENST00000636615.1:c.1071+141G>C	ENSP00000490014.1:n.1071+141G>C
ENST00000636843.1:c.1074G>C	ENSP00000490897.1:p.Gln358His
ENST00000637158.1:n.678G>C
ENST00000637381.2:n.3508G>C
ENST00000637387.1:c.1059G>C	ENSP00000490598.1:p.Gln353His
ENST00000637815.2:c.1062G>C	ENSP00000490344.1:p.Gln354His
ENST00000637915.1:c.1072-1G>C	ENSP00000490471.1:n.1072-1G>C
ENST00000637937.1:n.388G>C
ENST00000678991.1:c.*941G>C	ENSP00000503019.1:n.*941G>C
ENST00000236671.6:c.1080G>C	ENSP00000236671.2:p.Gln360His
ENST00000427721.2:c.471+141G>C	ENSP00000415840.2:n.471+141G>C
ENST00000429746.1:c.411G>C	ENSP00000402586.1:p.Gln137His
ENST00000433655.5:c.*246G>C	ENSP00000404902.1:n.*246G>C
NM_001909.4:c.1080G>C	NP_001900.1:p.Gln360His
NM_001909.5:c.1080G>C MANE Select	NP_001900.1:p.Gln360His