Canonical Allele Identifier: CA5813874

Gene: CTSD

Linked Data

• dbSNP Id: rs750489880
• ExAC: 11:1774762 C / T
• gnomAD v2: 11-1774762-C-T
• gnomAD v3: 11-1753532-C-T
• gnomAD v4: 11-1753532-C-T
• MyVariant Identifiers: chr11:g.1774762C>T (hg19) ; chr11:g.1753532C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753532C>T , CM000673.2:g.1753532C>T	GRCh38
NC_000011.9:g.1774762C>T , CM000673.1:g.1774762C>T	GRCh37
NC_000011.8:g.1731338C>T	NCBI36
NG_008655.1:g.15461G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1210G>A MANE Select	ENSP00000236671.2:p.Val404Met
ENST00000367196.4:c.1105G>A	ENSP00000356164.4:p.Val369Met
ENST00000427721.3:c.634+1G>A
ENST00000429746.2:c.1105G>A	ENSP00000402586.2:p.Val369Met
ENST00000433655.6:c.*376G>A	ENSP00000404902.1:n.*376G>A
ENST00000438213.6:c.1327G>A	ENSP00000415036.2:p.Val443Met
ENST00000636397.1:c.1071+271G>A	ENSP00000489910.1:n.1071+271G>A
ENST00000636571.1:c.1189G>A	ENSP00000490770.1:p.Val397Met
ENST00000636579.1:c.72+271G>A	ENSP00000490489.1:n.72+271G>A
ENST00000636615.1:c.1071+271G>A	ENSP00000490014.1:n.1071+271G>A
ENST00000636843.1:c.1204G>A	ENSP00000490897.1:p.Val402Met
ENST00000637158.1:n.808G>A
ENST00000637381.2:n.3638G>A
ENST00000637387.1:c.1189G>A	ENSP00000490598.1:p.Val397Met
ENST00000637815.2:c.1192G>A	ENSP00000490344.1:p.Val398Met
ENST00000637915.1:c.1201G>A	ENSP00000490471.1:p.Val401Met
ENST00000637937.1:n.518G>A
ENST00000678991.1:c.*1071G>A	ENSP00000503019.1:n.*1071G>A
ENST00000236671.6:c.1210G>A	ENSP00000236671.2:p.Val404Met
ENST00000427721.2:c.471+271G>A	ENSP00000415840.2:n.471+271G>A
ENST00000429746.1:c.541G>A	ENSP00000402586.1:p.Val181Met
ENST00000433655.5:c.*376G>A	ENSP00000404902.1:n.*376G>A
NM_001909.4:c.1210G>A	NP_001900.1:p.Val404Met
NM_001909.5:c.1210G>A MANE Select	NP_001900.1:p.Val404Met