Canonical Allele Identifier: CA216168559

Gene: CTSD

Linked Data

• ClinVar Variation Id: 2112589
• ClinVar RCV Id: RCV003026897
• dbSNP Id: rs11555040
• MyVariant Identifiers: chr11:g.1774790G>A (hg19) ; chr11:g.1753560G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753560G>A , CM000673.2:g.1753560G>A	GRCh38
NC_000011.9:g.1774790G>A , CM000673.1:g.1774790G>A	GRCh37
NC_000011.8:g.1731366G>A	NCBI36
NG_008655.1:g.15433C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1182C>T MANE Select	ENSP00000236671.2:p.Tyr394=
ENST00000367196.4:c.1077C>T	ENSP00000356164.4:p.Tyr359=
ENST00000427721.3:c.607C>T
ENST00000429746.2:c.1077C>T	ENSP00000402586.2:p.Tyr359=
ENST00000433655.6:c.*348C>T	ENSP00000404902.1:n.*348C>T
ENST00000438213.6:c.1299C>T	ENSP00000415036.2:p.Tyr433=
ENST00000636397.1:c.1071+243C>T	ENSP00000489910.1:n.1071+243C>T
ENST00000636571.1:c.1161C>T	ENSP00000490770.1:p.Tyr387=
ENST00000636579.1:c.72+243C>T	ENSP00000490489.1:n.72+243C>T
ENST00000636615.1:c.1071+243C>T	ENSP00000490014.1:n.1071+243C>T
ENST00000636843.1:c.1176C>T	ENSP00000490897.1:p.Tyr392=
ENST00000637158.1:n.780C>T
ENST00000637381.2:n.3610C>T
ENST00000637387.1:c.1161C>T	ENSP00000490598.1:p.Tyr387=
ENST00000637815.2:c.1164C>T	ENSP00000490344.1:p.Tyr388=
ENST00000637915.1:c.1173C>T	ENSP00000490471.1:p.Tyr391=
ENST00000637937.1:n.490C>T
ENST00000678991.1:c.*1043C>T	ENSP00000503019.1:n.*1043C>T
ENST00000236671.6:c.1182C>T	ENSP00000236671.2:p.Tyr394=
ENST00000427721.2:c.471+243C>T	ENSP00000415840.2:n.471+243C>T
ENST00000429746.1:c.513C>T	ENSP00000402586.1:p.Tyr171=
ENST00000433655.5:c.*348C>T	ENSP00000404902.1:n.*348C>T
NM_001909.4:c.1182C>T	NP_001900.1:p.Tyr394=
NM_001909.5:c.1182C>T MANE Select	NP_001900.1:p.Tyr394=