Canonical Allele Identifier: CA216175589

Gene: CTSD

Linked Data

• ClinVar Variation Id: 657638
• ClinVar RCV Id: RCV000814286
• dbSNP Id: rs1049074086
• gnomAD v3: 11-1759567-A-G
• gnomAD v4: 11-1759567-A-G
• MyVariant Identifiers: chr11:g.1780797A>G (hg19) ; chr11:g.1759567A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1759567A>G , CM000673.2:g.1759567A>G	GRCh38
NC_000011.9:g.1780797A>G , CM000673.1:g.1780797A>G	GRCh37
NC_000011.8:g.1737373A>G	NCBI36
NG_008655.1:g.9426T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.301T>C MANE Select	ENSP00000236671.2:p.Ser101Pro
ENST00000367196.4:c.196T>C	ENSP00000356164.4:p.Ser66Pro
ENST00000429746.2:c.196T>C	ENSP00000402586.2:p.Ser66Pro
ENST00000433655.6:c.301T>C	ENSP00000404902.1:p.Ser101Pro
ENST00000438213.6:c.301T>C	ENSP00000415036.2:p.Ser101Pro
ENST00000636397.1:c.301T>C	ENSP00000489910.1:p.Ser101Pro
ENST00000636571.1:c.280T>C	ENSP00000490770.1:p.Ser94Pro
ENST00000636615.1:c.301T>C	ENSP00000490014.1:p.Ser101Pro
ENST00000636843.1:c.295T>C	ENSP00000490897.1:p.Ser99Pro
ENST00000637381.2:n.2729T>C
ENST00000637387.1:c.301T>C	ENSP00000490598.1:p.Ser101Pro
ENST00000637815.2:c.301T>C	ENSP00000490344.1:p.Ser101Pro
ENST00000637915.1:c.301T>C	ENSP00000490471.1:p.Ser101Pro
ENST00000677300.1:n.696T>C
ENST00000678991.1:c.*162T>C	ENSP00000503019.1:n.*162T>C
ENST00000236671.6:c.301T>C	ENSP00000236671.2:p.Ser101Pro
ENST00000367196.3:c.196T>C	ENSP00000356164.3:p.Ser66Pro
ENST00000433655.5:c.301T>C	ENSP00000404902.1:p.Ser101Pro
ENST00000438213.5:c.256T>C	ENSP00000415036.1:p.Ser86Pro
NM_001909.4:c.301T>C	NP_001900.1:p.Ser101Pro
NM_001909.5:c.301T>C MANE Select	NP_001900.1:p.Ser101Pro