Canonical Allele Identifier: CA379092418

Gene: CTSD

Linked Data

• gnomAD v4: 11-1753559-T-A
• MyVariant Identifiers: chr11:g.1774789T>A (hg19) ; chr11:g.1753559T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753559T>A , CM000673.2:g.1753559T>A	GRCh38
NC_000011.9:g.1774789T>A , CM000673.1:g.1774789T>A	GRCh37
NC_000011.8:g.1731365T>A	NCBI36
NG_008655.1:g.15434A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.1183A>T MANE Select	ENSP00000236671.2:p.Thr395Ser
ENST00000367196.4:c.1078A>T	ENSP00000356164.4:p.Thr360Ser
ENST00000427721.3:c.608A>T
ENST00000429746.2:c.1078A>T	ENSP00000402586.2:p.Thr360Ser
ENST00000433655.6:c.*349A>T	ENSP00000404902.1:n.*349A>T
ENST00000438213.6:c.1300A>T	ENSP00000415036.2:p.Thr434Ser
ENST00000636397.1:c.1071+244A>T	ENSP00000489910.1:n.1071+244A>T
ENST00000636571.1:c.1162A>T	ENSP00000490770.1:p.Thr388Ser
ENST00000636579.1:c.72+244A>T	ENSP00000490489.1:n.72+244A>T
ENST00000636615.1:c.1071+244A>T	ENSP00000490014.1:n.1071+244A>T
ENST00000636843.1:c.1177A>T	ENSP00000490897.1:p.Thr393Ser
ENST00000637158.1:n.781A>T
ENST00000637381.2:n.3611A>T
ENST00000637387.1:c.1162A>T	ENSP00000490598.1:p.Thr388Ser
ENST00000637815.2:c.1165A>T	ENSP00000490344.1:p.Thr389Ser
ENST00000637915.1:c.1174A>T	ENSP00000490471.1:p.Thr392Ser
ENST00000637937.1:n.491A>T
ENST00000678991.1:c.*1044A>T	ENSP00000503019.1:n.*1044A>T
ENST00000236671.6:c.1183A>T	ENSP00000236671.2:p.Thr395Ser
ENST00000427721.2:c.471+244A>T	ENSP00000415840.2:n.471+244A>T
ENST00000429746.1:c.514A>T	ENSP00000402586.1:p.Thr172Ser
ENST00000433655.5:c.*349A>T	ENSP00000404902.1:n.*349A>T
NM_001909.4:c.1183A>T	NP_001900.1:p.Thr395Ser
NM_001909.5:c.1183A>T MANE Select	NP_001900.1:p.Thr395Ser