Canonical Allele Identifier: CA5814306

Gene: CTSD

Linked Data

• ClinVar Variation Id: 377758
• ClinVar RCV Id: RCV000431899 ; RCV001861492
• dbSNP Id: rs371858126
• ExAC: 11:1782715 G / T
• gnomAD v2: 11-1782715-G-T
• gnomAD v3: 11-1761485-G-T
• gnomAD v4: 11-1761485-G-T
• MyVariant Identifiers: chr11:g.1782715G>T (hg19) ; chr11:g.1761485G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1761485G>T , CM000673.2:g.1761485G>T	GRCh38
NC_000011.9:g.1782715G>T , CM000673.1:g.1782715G>T	GRCh37
NC_000011.8:g.1739291G>T	NCBI36
NG_008655.1:g.7508C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.69-17C>A MANE Select	ENSP00000236671.2:n.69-17C>A
ENST00000367196.4:c.-37-17C>A	ENSP00000356164.4:n.-37-17C>A
ENST00000429746.2:c.-37-17C>A	ENSP00000402586.2:n.-37-17C>A
ENST00000433655.6:c.69-17C>A	ENSP00000404902.1:n.69-17C>A
ENST00000438213.6:c.69-17C>A	ENSP00000415036.2:n.69-17C>A
ENST00000636397.1:c.69-17C>A	ENSP00000489910.1:n.69-17C>A
ENST00000636571.1:c.69-17C>A	ENSP00000490770.1:n.69-17C>A
ENST00000636615.1:c.69-17C>A	ENSP00000490014.1:n.69-17C>A
ENST00000636843.1:c.69-17C>A	ENSP00000490897.1:n.69-17C>A
ENST00000637381.2:n.2480C>A
ENST00000637387.1:c.69-17C>A	ENSP00000490598.1:n.69-17C>A
ENST00000637815.2:c.69-17C>A	ENSP00000490344.1:n.69-17C>A
ENST00000637915.1:c.69-17C>A	ENSP00000490471.1:n.69-17C>A
ENST00000678991.1:c.195C>A	ENSP00000503019.1:p.Pro65=
ENST00000236671.6:c.69-17C>A	ENSP00000236671.2:n.69-17C>A
ENST00000367196.3:c.-37-17C>A	ENSP00000356164.3:n.-37-17C>A
ENST00000433655.5:c.69-17C>A	ENSP00000404902.1:n.69-17C>A
ENST00000438213.5:c.7C>A	ENSP00000415036.1:p.Arg3=
NM_001909.4:c.69-17C>A	NP_001900.1:n.69-17C>A
NM_001909.5:c.69-17C>A MANE Select	NP_001900.1:n.69-17C>A