Canonical Allele Identifier: CA471988489

Gene: CTSD

Linked Data

• ClinVar Variation Id: 879288
• ClinVar RCV Id: RCV001106638 ; RCV002069754
• dbSNP Id: rs1845849997
• MyVariant Identifiers: chr11:g.1780813G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1759583G>A , CM000673.2:g.1759583G>A	GRCh38
NC_000011.9:g.1780813G>A , CM000673.1:g.1780813G>A	GRCh37
NC_000011.8:g.1737389G>A	NCBI36
NG_008655.1:g.9410C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.285C>T MANE Select	ENSP00000236671.2:p.Val95=
ENST00000367196.4:c.180C>T	ENSP00000356164.4:p.Val60=
ENST00000429746.2:c.180C>T	ENSP00000402586.2:p.Val60=
ENST00000433655.6:c.285C>T	ENSP00000404902.1:p.Val95=
ENST00000438213.6:c.285C>T	ENSP00000415036.2:p.Val95=
ENST00000636397.1:c.285C>T	ENSP00000489910.1:p.Val95=
ENST00000636571.1:c.264C>T	ENSP00000490770.1:p.Val88=
ENST00000636615.1:c.285C>T	ENSP00000490014.1:p.Val95=
ENST00000636843.1:c.279C>T	ENSP00000490897.1:p.Val93=
ENST00000637381.2:n.2713C>T
ENST00000637387.1:c.285C>T	ENSP00000490598.1:p.Val95=
ENST00000637815.2:c.285C>T	ENSP00000490344.1:p.Val95=
ENST00000637915.1:c.285C>T	ENSP00000490471.1:p.Val95=
ENST00000677300.1:n.680C>T
ENST00000678991.1:c.*146C>T	ENSP00000503019.1:n.*146C>T
ENST00000236671.6:c.285C>T	ENSP00000236671.2:p.Val95=
ENST00000367196.3:c.180C>T	ENSP00000356164.3:p.Val60=
ENST00000433655.5:c.285C>T	ENSP00000404902.1:p.Val95=
ENST00000438213.5:c.240C>T	ENSP00000415036.1:p.Val80=
NM_001909.4:c.285C>T	NP_001900.1:p.Val95=
NM_001909.5:c.285C>T MANE Select	NP_001900.1:p.Val95=