Canonical Allele Identifier: CA5813887

Gene: CTSD

Linked Data

• ClinVar Variation Id: 947364
• ClinVar RCV Id: RCV001218426 ; RCV001586062
• dbSNP Id: rs762076054
• ExAC: 11:1774814 G / A
• gnomAD v2: 11-1774814-G-A
• gnomAD v3: 11-1753584-G-A
• gnomAD v4: 11-1753584-G-A
• MyVariant Identifiers: chr11:g.1774814G>A (hg19) ; chr11:g.1753584G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753584G>A , CM000673.2:g.1753584G>A	GRCh38
NC_000011.9:g.1774814G>A , CM000673.1:g.1774814G>A	GRCh37
NC_000011.8:g.1731390G>A	NCBI36
NG_008655.1:g.15409C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1158C>T MANE Select	ENSP00000236671.2:p.Gly386=
ENST00000367196.4:c.1053C>T	ENSP00000356164.4:p.Gly351=
ENST00000427721.3:c.583C>T
ENST00000429746.2:c.1053C>T	ENSP00000402586.2:p.Gly351=
ENST00000433655.6:c.*324C>T	ENSP00000404902.1:n.*324C>T
ENST00000438213.6:c.1275C>T	ENSP00000415036.2:p.Gly425=
ENST00000636397.1:c.1071+219C>T	ENSP00000489910.1:n.1071+219C>T
ENST00000636571.1:c.1137C>T	ENSP00000490770.1:p.Gly379=
ENST00000636579.1:c.72+219C>T	ENSP00000490489.1:n.72+219C>T
ENST00000636615.1:c.1071+219C>T	ENSP00000490014.1:n.1071+219C>T
ENST00000636843.1:c.1152C>T	ENSP00000490897.1:p.Gly384=
ENST00000637158.1:n.756C>T
ENST00000637381.2:n.3586C>T
ENST00000637387.1:c.1137C>T	ENSP00000490598.1:p.Gly379=
ENST00000637815.2:c.1140C>T	ENSP00000490344.1:p.Gly380=
ENST00000637915.1:c.1149C>T	ENSP00000490471.1:p.Gly383=
ENST00000637937.1:n.466C>T
ENST00000678991.1:c.*1019C>T	ENSP00000503019.1:n.*1019C>T
ENST00000236671.6:c.1158C>T	ENSP00000236671.2:p.Gly386=
ENST00000427721.2:c.471+219C>T	ENSP00000415840.2:n.471+219C>T
ENST00000429746.1:c.489C>T	ENSP00000402586.1:p.Gly163=
ENST00000433655.5:c.*324C>T	ENSP00000404902.1:n.*324C>T
NM_001909.4:c.1158C>T	NP_001900.1:p.Gly386=
NM_001909.5:c.1158C>T MANE Select	NP_001900.1:p.Gly386=