Canonical Allele Identifier: CA5813871

Gene: CTSD

Linked Data

• dbSNP Id: rs764611893
• ExAC: 11:1774753 C / T
• gnomAD v2: 11-1774753-C-T
• gnomAD v3: 11-1753523-C-T
• gnomAD v4: 11-1753523-C-T
• MyVariant Identifiers: chr11:g.1774753C>T (hg19) ; chr11:g.1753523C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753523C>T , CM000673.2:g.1753523C>T	GRCh38
NC_000011.9:g.1774753C>T , CM000673.1:g.1774753C>T	GRCh37
NC_000011.8:g.1731329C>T	NCBI36
NG_008655.1:g.15470G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.1219G>A MANE Select	ENSP00000236671.2:p.Ala407Thr
ENST00000367196.4:c.1114G>A	ENSP00000356164.4:p.Ala372Thr
ENST00000427721.3:c.634+10G>A
ENST00000429746.2:c.1114G>A	ENSP00000402586.2:p.Ala372Thr
ENST00000433655.6:c.*385G>A	ENSP00000404902.1:n.*385G>A
ENST00000438213.6:c.1336G>A	ENSP00000415036.2:p.Ala446Thr
ENST00000636397.1:c.1071+280G>A	ENSP00000489910.1:n.1071+280G>A
ENST00000636571.1:c.1198G>A	ENSP00000490770.1:p.Ala400Thr
ENST00000636579.1:c.72+280G>A	ENSP00000490489.1:n.72+280G>A
ENST00000636615.1:c.1071+280G>A	ENSP00000490014.1:n.1071+280G>A
ENST00000636843.1:c.1213G>A	ENSP00000490897.1:p.Ala405Thr
ENST00000637158.1:n.817G>A
ENST00000637381.2:n.3647G>A
ENST00000637387.1:c.1198G>A	ENSP00000490598.1:p.Ala400Thr
ENST00000637815.2:c.1201G>A	ENSP00000490344.1:p.Ala401Thr
ENST00000637915.1:c.1210G>A	ENSP00000490471.1:p.Ala404Thr
ENST00000637937.1:n.527G>A
ENST00000678991.1:c.*1080G>A	ENSP00000503019.1:n.*1080G>A
ENST00000236671.6:c.1219G>A	ENSP00000236671.2:p.Ala407Thr
ENST00000427721.2:c.471+280G>A	ENSP00000415840.2:n.471+280G>A
ENST00000429746.1:c.550G>A	ENSP00000402586.1:p.Ala184Thr
ENST00000433655.5:c.*385G>A	ENSP00000404902.1:n.*385G>A
NM_001909.4:c.1219G>A	NP_001900.1:p.Ala407Thr
NM_001909.5:c.1219G>A MANE Select	NP_001900.1:p.Ala407Thr