Canonical Allele Identifier: CA472139553

Gene: CTSD

Linked Data

• gnomAD v4: 11-1753530-C-T
• MyVariant Identifiers: chr11:g.1774760C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753530C>T , CM000673.2:g.1753530C>T	GRCh38
NC_000011.9:g.1774760C>T , CM000673.1:g.1774760C>T	GRCh37
NC_000011.8:g.1731336C>T	NCBI36
NG_008655.1:g.15463G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.1212G>A MANE Select	ENSP00000236671.2:p.Val404=
ENST00000367196.4:c.1107G>A	ENSP00000356164.4:p.Val369=
ENST00000427721.3:c.634+3G>A
ENST00000429746.2:c.1107G>A	ENSP00000402586.2:p.Val369=
ENST00000433655.6:c.*378G>A	ENSP00000404902.1:n.*378G>A
ENST00000438213.6:c.1329G>A	ENSP00000415036.2:p.Val443=
ENST00000636397.1:c.1071+273G>A	ENSP00000489910.1:n.1071+273G>A
ENST00000636571.1:c.1191G>A	ENSP00000490770.1:p.Val397=
ENST00000636579.1:c.72+273G>A	ENSP00000490489.1:n.72+273G>A
ENST00000636615.1:c.1071+273G>A	ENSP00000490014.1:n.1071+273G>A
ENST00000636843.1:c.1206G>A	ENSP00000490897.1:p.Val402=
ENST00000637158.1:n.810G>A
ENST00000637381.2:n.3640G>A
ENST00000637387.1:c.1191G>A	ENSP00000490598.1:p.Val397=
ENST00000637815.2:c.1194G>A	ENSP00000490344.1:p.Val398=
ENST00000637915.1:c.1203G>A	ENSP00000490471.1:p.Val401=
ENST00000637937.1:n.520G>A
ENST00000678991.1:c.*1073G>A	ENSP00000503019.1:n.*1073G>A
ENST00000236671.6:c.1212G>A	ENSP00000236671.2:p.Val404=
ENST00000427721.2:c.471+273G>A	ENSP00000415840.2:n.471+273G>A
ENST00000429746.1:c.543G>A	ENSP00000402586.1:p.Val181=
ENST00000433655.5:c.*378G>A	ENSP00000404902.1:n.*378G>A
NM_001909.4:c.1212G>A	NP_001900.1:p.Val404=
NM_001909.5:c.1212G>A MANE Select	NP_001900.1:p.Val404=