Canonical Allele Identifier: CA10630499

Gene: CTSD

Linked Data

• ClinVar Variation Id: 303835
• ClinVar RCV Id: RCV000360520 ; RCV001850607
• dbSNP Id: rs886048064
• gnomAD v4: 11-1753909-G-T
• MyVariant Identifiers: chr11:g.1775139G>T (hg19) ; chr11:g.1753909G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753909G>T , CM000673.2:g.1753909G>T	GRCh38
NC_000011.9:g.1775139G>T , CM000673.1:g.1775139G>T	GRCh37
NC_000011.8:g.1731715G>T	NCBI36
NG_008655.1:g.15084C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.973-8C>A MANE Select	ENSP00000236671.2:n.973-8C>A
ENST00000367196.4:c.868-8C>A	ENSP00000356164.4:n.868-8C>A
ENST00000427721.3:c.398-8C>A
ENST00000429746.2:c.868-8C>A	ENSP00000402586.2:n.868-8C>A
ENST00000433655.6:c.*139-8C>A	ENSP00000404902.1:n.*139-8C>A
ENST00000438213.6:c.1090-8C>A	ENSP00000415036.2:n.1090-8C>A
ENST00000497544.3:n.673C>A
ENST00000636397.1:c.973-8C>A	ENSP00000489910.1:n.973-8C>A
ENST00000636571.1:c.952-8C>A	ENSP00000490770.1:n.952-8C>A
ENST00000636615.1:c.973-8C>A	ENSP00000490014.1:n.973-8C>A
ENST00000636843.1:c.967-8C>A	ENSP00000490897.1:n.967-8C>A
ENST00000637158.1:n.571-8C>A
ENST00000637381.2:n.3401-8C>A
ENST00000637387.1:c.973-29C>A	ENSP00000490598.1:n.973-29C>A
ENST00000637815.2:c.955-8C>A	ENSP00000490344.1:n.955-8C>A
ENST00000637915.1:c.973-8C>A	ENSP00000490471.1:n.973-8C>A
ENST00000637937.1:n.281-8C>A
ENST00000678991.1:c.*834-8C>A	ENSP00000503019.1:n.*834-8C>A
ENST00000236671.6:c.973-8C>A	ENSP00000236671.2:n.973-8C>A
ENST00000427721.2:c.373-8C>A	ENSP00000415840.2:n.373-8C>A
ENST00000429746.1:c.304-8C>A	ENSP00000402586.1:n.304-8C>A
ENST00000433655.5:c.*139-8C>A	ENSP00000404902.1:n.*139-8C>A
ENST00000497544.1:n.673C>A
NM_001909.4:c.973-8C>A	NP_001900.1:n.973-8C>A
NM_001909.5:c.973-8C>A MANE Select	NP_001900.1:n.973-8C>A