Canonical Allele Identifier: CA10630498

Gene: CTSD

Linked Data

• ClinVar Variation Id: 303832
• ClinVar RCV Id: RCV000406144
• dbSNP Id: rs886048063
• gnomAD v4: 11-1753445-G-A
• MyVariant Identifiers: chr11:g.1774675G>A (hg19) ; chr11:g.1753445G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753445G>A , CM000673.2:g.1753445G>A	GRCh38
NC_000011.9:g.1774675G>A , CM000673.1:g.1774675G>A	GRCh37
NC_000011.8:g.1731251G>A	NCBI36
NG_008655.1:g.15548C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.*58C>T MANE Select	ENSP00000236671.2:n.*58C>T
ENST00000367196.4:c.*58C>T	ENSP00000356164.4:n.*58C>T
ENST00000427721.3:c.634+88C>T
ENST00000429746.2:c.*58C>T	ENSP00000402586.2:n.*58C>T
ENST00000433655.6:c.*463C>T	ENSP00000404902.1:n.*463C>T
ENST00000438213.6:c.*58C>T	ENSP00000415036.2:n.*58C>T
ENST00000636397.1:c.1071+358C>T	ENSP00000489910.1:n.1071+358C>T
ENST00000636571.1:c.*58C>T	ENSP00000490770.1:n.*58C>T
ENST00000636579.1:c.72+358C>T	ENSP00000490489.1:n.72+358C>T
ENST00000636615.1:c.1071+358C>T	ENSP00000490014.1:n.1071+358C>T
ENST00000636843.1:c.*58C>T	ENSP00000490897.1:n.*58C>T
ENST00000637158.1:n.895C>T
ENST00000637381.2:n.3725C>T
ENST00000637387.1:c.*58C>T	ENSP00000490598.1:n.*58C>T
ENST00000637815.2:c.*58C>T	ENSP00000490344.1:n.*58C>T
ENST00000637915.1:c.*58C>T	ENSP00000490471.1:n.*58C>T
ENST00000637937.1:n.605C>T
ENST00000678991.1:c.*1158C>T	ENSP00000503019.1:n.*1158C>T
ENST00000236671.6:c.*58C>T	ENSP00000236671.2:n.*58C>T
ENST00000427721.2:c.471+358C>T	ENSP00000415840.2:n.471+358C>T
ENST00000429746.1:c.628C>T	ENSP00000402586.1:n.628C>T
ENST00000433655.5:c.*463C>T	ENSP00000404902.1:n.*463C>T
NM_001909.4:c.*58C>T	NP_001900.1:n.*58C>T
NM_001909.5:c.*58C>T MANE Select	NP_001900.1:n.*58C>T