Canonical Allele Identifier: CA379093613

Gene: CTSD

Linked Data

• dbSNP Id: rs1194468387
• gnomAD v2: 11-1775247-C-T
• gnomAD v4: 11-1754017-C-T
• MyVariant Identifiers: chr11:g.1775247C>T (hg19) ; chr11:g.1754017C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1754017C>T , CM000673.2:g.1754017C>T	GRCh38
NC_000011.9:g.1775247C>T , CM000673.1:g.1775247C>T	GRCh37
NC_000011.8:g.1731823C>T	NCBI36
NG_008655.1:g.14976G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.949G>A MANE Select	ENSP00000236671.2:p.Ala317Thr
ENST00000367196.4:c.844G>A	ENSP00000356164.4:p.Ala282Thr
ENST00000427721.3:c.374G>A
ENST00000429746.2:c.844G>A	ENSP00000402586.2:p.Ala282Thr
ENST00000433655.6:c.*115G>A	ENSP00000404902.1:n.*115G>A
ENST00000438213.6:c.1066G>A	ENSP00000415036.2:p.Ala356Thr
ENST00000497544.3:n.565G>A
ENST00000636397.1:c.949G>A	ENSP00000489910.1:p.Ala317Thr
ENST00000636571.1:c.928G>A	ENSP00000490770.1:p.Ala310Thr
ENST00000636615.1:c.949G>A	ENSP00000490014.1:p.Ala317Thr
ENST00000636843.1:c.943G>A	ENSP00000490897.1:p.Ala315Thr
ENST00000637158.1:n.547G>A
ENST00000637381.2:n.3377G>A
ENST00000637387.1:c.949G>A	ENSP00000490598.1:p.Ala317Thr
ENST00000637815.2:c.931G>A	ENSP00000490344.1:p.Ala311Thr
ENST00000637915.1:c.949G>A	ENSP00000490471.1:p.Ala317Thr
ENST00000637937.1:n.257G>A
ENST00000678991.1:c.*810G>A	ENSP00000503019.1:n.*810G>A
ENST00000236671.6:c.949G>A	ENSP00000236671.2:p.Ala317Thr
ENST00000427721.2:c.349G>A	ENSP00000415840.2:p.Ala117Thr
ENST00000429746.1:c.280G>A	ENSP00000402586.1:p.Ala94Thr
ENST00000433655.5:c.*115G>A	ENSP00000404902.1:n.*115G>A
ENST00000497544.1:n.565G>A
NM_001909.4:c.949G>A	NP_001900.1:p.Ala317Thr
NM_001909.5:c.949G>A MANE Select	NP_001900.1:p.Ala317Thr