Canonical Allele Identifier: CA5814240

Gene: CTSD

Linked Data

• ClinVar Variation Id: 701632
• ClinVar RCV Id: RCV001452834
• dbSNP Id: rs778220078
• ExAC: 11:1780810 G / A
• gnomAD v2: 11-1780810-G-A
• gnomAD v3: 11-1759580-G-A
• gnomAD v4: 11-1759580-G-A
• MyVariant Identifiers: chr11:g.1780810G>A (hg19) ; chr11:g.1759580G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1759580G>A , CM000673.2:g.1759580G>A	GRCh38
NC_000011.9:g.1780810G>A , CM000673.1:g.1780810G>A	GRCh37
NC_000011.8:g.1737386G>A	NCBI36
NG_008655.1:g.9413C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.288C>T MANE Select	ENSP00000236671.2:p.Phe96=
ENST00000367196.4:c.183C>T	ENSP00000356164.4:p.Phe61=
ENST00000429746.2:c.183C>T	ENSP00000402586.2:p.Phe61=
ENST00000433655.6:c.288C>T	ENSP00000404902.1:p.Phe96=
ENST00000438213.6:c.288C>T	ENSP00000415036.2:p.Phe96=
ENST00000636397.1:c.288C>T	ENSP00000489910.1:p.Phe96=
ENST00000636571.1:c.267C>T	ENSP00000490770.1:p.Phe89=
ENST00000636615.1:c.288C>T	ENSP00000490014.1:p.Phe96=
ENST00000636843.1:c.282C>T	ENSP00000490897.1:p.Phe94=
ENST00000637381.2:n.2716C>T
ENST00000637387.1:c.288C>T	ENSP00000490598.1:p.Phe96=
ENST00000637815.2:c.288C>T	ENSP00000490344.1:p.Phe96=
ENST00000637915.1:c.288C>T	ENSP00000490471.1:p.Phe96=
ENST00000677300.1:n.683C>T
ENST00000678991.1:c.*149C>T	ENSP00000503019.1:n.*149C>T
ENST00000236671.6:c.288C>T	ENSP00000236671.2:p.Phe96=
ENST00000367196.3:c.183C>T	ENSP00000356164.3:p.Phe61=
ENST00000433655.5:c.288C>T	ENSP00000404902.1:p.Phe96=
ENST00000438213.5:c.243C>T	ENSP00000415036.1:p.Phe81=
NM_001909.4:c.288C>T	NP_001900.1:p.Phe96=
NM_001909.5:c.288C>T MANE Select	NP_001900.1:p.Phe96=