Canonical Allele Identifier: CA379098522

Gene: CTSD

Linked Data

• ClinVar Variation Id: 568472
• ClinVar RCV Id: RCV000688842
• dbSNP Id: rs1565022412
• gnomAD v4: 11-1759615-T-C
• MyVariant Identifiers: chr11:g.1780845T>C (hg19) ; chr11:g.1759615T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1759615T>C , CM000673.2:g.1759615T>C	GRCh38
NC_000011.9:g.1780845T>C , CM000673.1:g.1780845T>C	GRCh37
NC_000011.8:g.1737421T>C	NCBI36
NG_008655.1:g.9378A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.253A>G MANE Select	ENSP00000236671.2:p.Ile85Val
ENST00000367196.4:c.148A>G	ENSP00000356164.4:p.Ile50Val
ENST00000429746.2:c.148A>G	ENSP00000402586.2:p.Ile50Val
ENST00000433655.6:c.253A>G	ENSP00000404902.1:p.Ile85Val
ENST00000438213.6:c.253A>G	ENSP00000415036.2:p.Ile85Val
ENST00000636397.1:c.253A>G	ENSP00000489910.1:p.Ile85Val
ENST00000636571.1:c.232A>G	ENSP00000490770.1:p.Ile78Val
ENST00000636615.1:c.253A>G	ENSP00000490014.1:p.Ile85Val
ENST00000636843.1:c.247A>G	ENSP00000490897.1:p.Ile83Val
ENST00000637381.2:n.2681A>G
ENST00000637387.1:c.253A>G	ENSP00000490598.1:p.Ile85Val
ENST00000637815.2:c.253A>G	ENSP00000490344.1:p.Ile85Val
ENST00000637915.1:c.253A>G	ENSP00000490471.1:p.Ile85Val
ENST00000677300.1:n.648A>G
ENST00000678991.1:c.*114A>G	ENSP00000503019.1:n.*114A>G
ENST00000236671.6:c.253A>G	ENSP00000236671.2:p.Ile85Val
ENST00000367196.3:c.148A>G	ENSP00000356164.3:p.Ile50Val
ENST00000433655.5:c.253A>G	ENSP00000404902.1:p.Ile85Val
ENST00000438213.5:c.208A>G	ENSP00000415036.1:p.Ile70Val
NM_001909.4:c.253A>G	NP_001900.1:p.Ile85Val
NM_001909.5:c.253A>G MANE Select	NP_001900.1:p.Ile85Val