Canonical Allele Identifier: CA5814109

Gene: CTSD

Linked Data

• ClinVar Variation Id: 498483
• ClinVar RCV Id: RCV000591071 ; RCV002062024
• dbSNP Id: rs748547852
• ExAC: 11:1778547 C / T
• gnomAD v2: 11-1778547-C-T
• gnomAD v4: 11-1757317-C-T
• MyVariant Identifiers: chr11:g.1778547C>T (hg19) ; chr11:g.1757317C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1757317C>T , CM000673.2:g.1757317C>T	GRCh38
NC_000011.9:g.1778547C>T , CM000673.1:g.1778547C>T	GRCh37
NC_000011.8:g.1735123C>T	NCBI36
NG_008655.1:g.11676G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.704+7G>A MANE Select	ENSP00000236671.2:n.704+7G>A
ENST00000367196.4:c.599+7G>A	ENSP00000356164.4:n.599+7G>A
ENST00000427721.3:c.129+7G>A
ENST00000429746.2:c.599+7G>A	ENSP00000402586.2:n.599+7G>A
ENST00000433655.6:c.704+7G>A	ENSP00000404902.1:n.704+7G>A
ENST00000438213.6:c.704+7G>A	ENSP00000415036.2:n.704+7G>A
ENST00000636397.1:c.704+7G>A	ENSP00000489910.1:n.704+7G>A
ENST00000636571.1:c.683+7G>A	ENSP00000490770.1:n.683+7G>A
ENST00000636615.1:c.704+7G>A	ENSP00000490014.1:n.704+7G>A
ENST00000636843.1:c.698+7G>A	ENSP00000490897.1:n.698+7G>A
ENST00000637158.1:n.302+7G>A
ENST00000637381.2:n.3132+7G>A
ENST00000637387.1:c.704+7G>A	ENSP00000490598.1:n.704+7G>A
ENST00000637815.2:c.704+7G>A	ENSP00000490344.1:n.704+7G>A
ENST00000637915.1:c.704+7G>A	ENSP00000490471.1:n.704+7G>A
ENST00000678991.1:c.*565+7G>A	ENSP00000503019.1:n.*565+7G>A
ENST00000236671.6:c.704+7G>A	ENSP00000236671.2:n.704+7G>A
ENST00000427721.2:c.104+7G>A	ENSP00000415840.2:n.104+7G>A
ENST00000433655.5:c.704+7G>A	ENSP00000404902.1:n.704+7G>A
ENST00000438213.5:c.659+7G>A	ENSP00000415036.1:n.659+7G>A
NM_001909.4:c.704+7G>A	NP_001900.1:n.704+7G>A
NM_001909.5:c.704+7G>A MANE Select	NP_001900.1:n.704+7G>A