Canonical Allele Identifier: CA5813987

Gene: CTSD

Linked Data

• ClinVar Variation Id: 1018496
• ClinVar RCV Id: RCV001317804
• dbSNP Id: rs761766384
• ExAC: 11:1775228 C / T
• gnomAD v2: 11-1775228-C-T
• MyVariant Identifiers: chr11:g.1775228C>T (hg19) ; chr11:g.1753998C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753998C>T , CM000673.2:g.1753998C>T	GRCh38
NC_000011.9:g.1775228C>T , CM000673.1:g.1775228C>T	GRCh37
NC_000011.8:g.1731804C>T	NCBI36
NG_008655.1:g.14995G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.968G>A MANE Select	ENSP00000236671.2:p.Gly323Asp
ENST00000367196.4:c.863G>A	ENSP00000356164.4:p.Gly288Asp
ENST00000427721.3:c.393G>A
ENST00000429746.2:c.863G>A	ENSP00000402586.2:p.Gly288Asp
ENST00000433655.6:c.*134G>A	ENSP00000404902.1:n.*134G>A
ENST00000438213.6:c.1085G>A	ENSP00000415036.2:p.Gly362Asp
ENST00000497544.3:n.584G>A
ENST00000636397.1:c.968G>A	ENSP00000489910.1:p.Gly323Asp
ENST00000636571.1:c.947G>A	ENSP00000490770.1:p.Gly316Asp
ENST00000636615.1:c.968G>A	ENSP00000490014.1:p.Gly323Asp
ENST00000636843.1:c.962G>A	ENSP00000490897.1:p.Gly321Asp
ENST00000637158.1:n.566G>A
ENST00000637381.2:n.3396G>A
ENST00000637387.1:c.968G>A	ENSP00000490598.1:p.Gly323Asp
ENST00000637815.2:c.950G>A	ENSP00000490344.1:p.Gly317Asp
ENST00000637915.1:c.968G>A	ENSP00000490471.1:p.Gly323Asp
ENST00000637937.1:n.276G>A
ENST00000678991.1:c.*829G>A	ENSP00000503019.1:n.*829G>A
ENST00000236671.6:c.968G>A	ENSP00000236671.2:p.Gly323Asp
ENST00000427721.2:c.368G>A	ENSP00000415840.2:p.Gly123Asp
ENST00000429746.1:c.299G>A	ENSP00000402586.1:p.Gly100Asp
ENST00000433655.5:c.*134G>A	ENSP00000404902.1:n.*134G>A
ENST00000497544.1:n.584G>A
NM_001909.4:c.968G>A	NP_001900.1:p.Gly323Asp
NM_001909.5:c.968G>A MANE Select	NP_001900.1:p.Gly323Asp