Canonical Allele Identifier: CA5813951

Gene: CTSD

Linked Data

• ClinVar Variation Id: 1109484
• ClinVar RCV Id: RCV001435338
• dbSNP Id: rs769758232
• ExAC: 11:1775096 G / A
• gnomAD v2: 11-1775096-G-A
• gnomAD v3: 11-1753866-G-A
• gnomAD v4: 11-1753866-G-A
• MyVariant Identifiers: chr11:g.1775096G>A (hg19) ; chr11:g.1753866G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753866G>A , CM000673.2:g.1753866G>A	GRCh38
NC_000011.9:g.1775096G>A , CM000673.1:g.1775096G>A	GRCh37
NC_000011.8:g.1731672G>A	NCBI36
NG_008655.1:g.15127C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1008C>T MANE Select	ENSP00000236671.2:p.Pro336=
ENST00000367196.4:c.903C>T	ENSP00000356164.4:p.Pro301=
ENST00000427721.3:c.433C>T
ENST00000429746.2:c.903C>T	ENSP00000402586.2:p.Pro301=
ENST00000433655.6:c.*174C>T	ENSP00000404902.1:n.*174C>T
ENST00000438213.6:c.1125C>T	ENSP00000415036.2:p.Pro375=
ENST00000497544.3:n.716C>T
ENST00000636397.1:c.1008C>T	ENSP00000489910.1:p.Pro336=
ENST00000636571.1:c.987C>T	ENSP00000490770.1:p.Pro329=
ENST00000636579.1:c.9C>T	ENSP00000490489.1:p.Pro3=
ENST00000636615.1:c.1008C>T	ENSP00000490014.1:p.Pro336=
ENST00000636843.1:c.1002C>T	ENSP00000490897.1:p.Pro334=
ENST00000637158.1:n.606C>T
ENST00000637381.2:n.3436C>T
ENST00000637387.1:c.987C>T	ENSP00000490598.1:p.Pro329=
ENST00000637815.2:c.990C>T	ENSP00000490344.1:p.Pro330=
ENST00000637915.1:c.1008C>T	ENSP00000490471.1:p.Pro336=
ENST00000637937.1:n.316C>T
ENST00000678991.1:c.*869C>T	ENSP00000503019.1:n.*869C>T
ENST00000236671.6:c.1008C>T	ENSP00000236671.2:p.Pro336=
ENST00000427721.2:c.408C>T	ENSP00000415840.2:p.Pro136=
ENST00000429746.1:c.339C>T	ENSP00000402586.1:p.Pro113=
ENST00000433655.5:c.*174C>T	ENSP00000404902.1:n.*174C>T
ENST00000497544.1:n.716C>T
NM_001909.4:c.1008C>T	NP_001900.1:p.Pro336=
NM_001909.5:c.1008C>T MANE Select	NP_001900.1:p.Pro336=