Canonical Allele Identifier: CA5813870

Gene: CTSD

Linked Data

• dbSNP Id: rs572647829
• ExAC: 11:1774752 G / A
• gnomAD v2: 11-1774752-G-A
• gnomAD v3: 11-1753522-G-A
• gnomAD v4: 11-1753522-G-A
• MyVariant Identifiers: chr11:g.1774752G>A (hg19) ; chr11:g.1753522G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753522G>A , CM000673.2:g.1753522G>A	GRCh38
NC_000011.9:g.1774752G>A , CM000673.1:g.1774752G>A	GRCh37
NC_000011.8:g.1731328G>A	NCBI36
NG_008655.1:g.15471C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.1220C>T MANE Select	ENSP00000236671.2:p.Ala407Val
ENST00000367196.4:c.1115C>T	ENSP00000356164.4:p.Ala372Val
ENST00000427721.3:c.634+11C>T
ENST00000429746.2:c.1115C>T	ENSP00000402586.2:p.Ala372Val
ENST00000433655.6:c.*386C>T	ENSP00000404902.1:n.*386C>T
ENST00000438213.6:c.1337C>T	ENSP00000415036.2:p.Ala446Val
ENST00000636397.1:c.1071+281C>T	ENSP00000489910.1:n.1071+281C>T
ENST00000636571.1:c.1199C>T	ENSP00000490770.1:p.Ala400Val
ENST00000636579.1:c.72+281C>T	ENSP00000490489.1:n.72+281C>T
ENST00000636615.1:c.1071+281C>T	ENSP00000490014.1:n.1071+281C>T
ENST00000636843.1:c.1214C>T	ENSP00000490897.1:p.Ala405Val
ENST00000637158.1:n.818C>T
ENST00000637381.2:n.3648C>T
ENST00000637387.1:c.1199C>T	ENSP00000490598.1:p.Ala400Val
ENST00000637815.2:c.1202C>T	ENSP00000490344.1:p.Ala401Val
ENST00000637915.1:c.1211C>T	ENSP00000490471.1:p.Ala404Val
ENST00000637937.1:n.528C>T
ENST00000678991.1:c.*1081C>T	ENSP00000503019.1:n.*1081C>T
ENST00000236671.6:c.1220C>T	ENSP00000236671.2:p.Ala407Val
ENST00000427721.2:c.471+281C>T	ENSP00000415840.2:n.471+281C>T
ENST00000429746.1:c.551C>T	ENSP00000402586.1:p.Ala184Val
ENST00000433655.5:c.*386C>T	ENSP00000404902.1:n.*386C>T
NM_001909.4:c.1220C>T	NP_001900.1:p.Ala407Val
NM_001909.5:c.1220C>T MANE Select	NP_001900.1:p.Ala407Val