Canonical Allele Identifier: CA379093643

Gene: CTSD

Linked Data

• dbSNP Id: rs1173860527
• gnomAD v2: 11-1775253-T-A
• gnomAD v4: 11-1754023-T-A
• MyVariant Identifiers: chr11:g.1775253T>A (hg19) ; chr11:g.1754023T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1754023T>A , CM000673.2:g.1754023T>A	GRCh38
NC_000011.9:g.1775253T>A , CM000673.1:g.1775253T>A	GRCh37
NC_000011.8:g.1731829T>A	NCBI36
NG_008655.1:g.14970A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.943A>T MANE Select	ENSP00000236671.2:p.Ile315Phe
ENST00000367196.4:c.838A>T	ENSP00000356164.4:p.Ile280Phe
ENST00000427721.3:c.368A>T
ENST00000429746.2:c.838A>T	ENSP00000402586.2:p.Ile280Phe
ENST00000433655.6:c.*109A>T	ENSP00000404902.1:n.*109A>T
ENST00000438213.6:c.1060A>T	ENSP00000415036.2:p.Ile354Phe
ENST00000497544.3:n.559A>T
ENST00000636397.1:c.943A>T	ENSP00000489910.1:p.Ile315Phe
ENST00000636571.1:c.922A>T	ENSP00000490770.1:p.Ile308Phe
ENST00000636615.1:c.943A>T	ENSP00000490014.1:p.Ile315Phe
ENST00000636843.1:c.937A>T	ENSP00000490897.1:p.Ile313Phe
ENST00000637158.1:n.541A>T
ENST00000637381.2:n.3371A>T
ENST00000637387.1:c.943A>T	ENSP00000490598.1:p.Ile315Phe
ENST00000637815.2:c.925A>T	ENSP00000490344.1:p.Ile309Phe
ENST00000637915.1:c.943A>T	ENSP00000490471.1:p.Ile315Phe
ENST00000637937.1:n.251A>T
ENST00000678991.1:c.*804A>T	ENSP00000503019.1:n.*804A>T
ENST00000236671.6:c.943A>T	ENSP00000236671.2:p.Ile315Phe
ENST00000427721.2:c.343A>T	ENSP00000415840.2:p.Ile115Phe
ENST00000429746.1:c.274A>T	ENSP00000402586.1:p.Ile92Phe
ENST00000433655.5:c.*109A>T	ENSP00000404902.1:n.*109A>T
ENST00000497544.1:n.559A>T
NM_001909.4:c.943A>T	NP_001900.1:p.Ile315Phe
NM_001909.5:c.943A>T MANE Select	NP_001900.1:p.Ile315Phe