Canonical Allele Identifier: CA5813893

Gene: CTSD

Linked Data

• ClinVar Variation Id: 1125499
• ClinVar RCV Id: RCV001457209
• dbSNP Id: rs771647299
• ExAC: 11:1774868 G / A
• gnomAD v2: 11-1774868-G-A
• gnomAD v3: 11-1753638-G-A
• gnomAD v4: 11-1753638-G-A
• MyVariant Identifiers: chr11:g.1774868G>A (hg19) ; chr11:g.1753638G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753638G>A , CM000673.2:g.1753638G>A	GRCh38
NC_000011.9:g.1774868G>A , CM000673.1:g.1774868G>A	GRCh37
NC_000011.8:g.1731444G>A	NCBI36
NG_008655.1:g.15355C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1104C>T MANE Select	ENSP00000236671.2:p.Ser368=
ENST00000367196.4:c.999C>T	ENSP00000356164.4:p.Ser333=
ENST00000427721.3:c.529C>T
ENST00000429746.2:c.999C>T	ENSP00000402586.2:p.Ser333=
ENST00000433655.6:c.*270C>T	ENSP00000404902.1:n.*270C>T
ENST00000438213.6:c.1221C>T	ENSP00000415036.2:p.Ser407=
ENST00000636397.1:c.1071+165C>T	ENSP00000489910.1:n.1071+165C>T
ENST00000636571.1:c.1083C>T	ENSP00000490770.1:p.Ser361=
ENST00000636579.1:c.72+165C>T	ENSP00000490489.1:n.72+165C>T
ENST00000636615.1:c.1071+165C>T	ENSP00000490014.1:n.1071+165C>T
ENST00000636843.1:c.1098C>T	ENSP00000490897.1:p.Ser366=
ENST00000637158.1:n.702C>T
ENST00000637381.2:n.3532C>T
ENST00000637387.1:c.1083C>T	ENSP00000490598.1:p.Ser361=
ENST00000637815.2:c.1086C>T	ENSP00000490344.1:p.Ser362=
ENST00000637915.1:c.1095C>T	ENSP00000490471.1:p.Ser365=
ENST00000637937.1:n.412C>T
ENST00000678991.1:c.*965C>T	ENSP00000503019.1:n.*965C>T
ENST00000236671.6:c.1104C>T	ENSP00000236671.2:p.Ser368=
ENST00000427721.2:c.471+165C>T	ENSP00000415840.2:n.471+165C>T
ENST00000429746.1:c.435C>T	ENSP00000402586.1:p.Ser145=
ENST00000433655.5:c.*270C>T	ENSP00000404902.1:n.*270C>T
NM_001909.4:c.1104C>T	NP_001900.1:p.Ser368=
NM_001909.5:c.1104C>T MANE Select	NP_001900.1:p.Ser368=