Canonical Allele Identifier: CA10634247

Gene: CTSD

Linked Data

• ClinVar Variation Id: 303837
• ClinVar RCV Id: RCV000378283
• dbSNP Id: rs886048065
• MyVariant Identifiers: chr11:g.1775256C>T (hg19) ; chr11:g.1754026C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1754026C>T , CM000673.2:g.1754026C>T	GRCh38
NC_000011.9:g.1775256C>T , CM000673.1:g.1775256C>T	GRCh37
NC_000011.8:g.1731832C>T	NCBI36
NG_008655.1:g.14967G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.940G>A MANE Select	ENSP00000236671.2:p.Ala314Thr
ENST00000367196.4:c.835G>A	ENSP00000356164.4:p.Ala279Thr
ENST00000427721.3:c.365G>A
ENST00000429746.2:c.835G>A	ENSP00000402586.2:p.Ala279Thr
ENST00000433655.6:c.*106G>A	ENSP00000404902.1:n.*106G>A
ENST00000438213.6:c.1057G>A	ENSP00000415036.2:p.Ala353Thr
ENST00000497544.3:n.556G>A
ENST00000636397.1:c.940G>A	ENSP00000489910.1:p.Ala314Thr
ENST00000636571.1:c.919G>A	ENSP00000490770.1:p.Ala307Thr
ENST00000636615.1:c.940G>A	ENSP00000490014.1:p.Ala314Thr
ENST00000636843.1:c.934G>A	ENSP00000490897.1:p.Ala312Thr
ENST00000637158.1:n.538G>A
ENST00000637381.2:n.3368G>A
ENST00000637387.1:c.940G>A	ENSP00000490598.1:p.Ala314Thr
ENST00000637815.2:c.922G>A	ENSP00000490344.1:p.Ala308Thr
ENST00000637915.1:c.940G>A	ENSP00000490471.1:p.Ala314Thr
ENST00000637937.1:n.248G>A
ENST00000678991.1:c.*801G>A	ENSP00000503019.1:n.*801G>A
ENST00000236671.6:c.940G>A	ENSP00000236671.2:p.Ala314Thr
ENST00000427721.2:c.340G>A	ENSP00000415840.2:p.Ala114Thr
ENST00000429746.1:c.271G>A	ENSP00000402586.1:p.Ala91Thr
ENST00000433655.5:c.*106G>A	ENSP00000404902.1:n.*106G>A
ENST00000438213.5:c.895G>A	ENSP00000415036.1:p.Ala299Thr
ENST00000497544.1:n.556G>A
NM_001909.4:c.940G>A	NP_001900.1:p.Ala314Thr
NM_001909.5:c.940G>A MANE Select	NP_001900.1:p.Ala314Thr