Canonical Allele Identifier: CA472140844

Gene: CTSD

Linked Data

• ClinVar Variation Id: 527760
• ClinVar RCV Id: RCV000632728
• dbSNP Id: rs1428157464
• gnomAD v2: 11-1775263-C-T
• gnomAD v4: 11-1754033-C-T
• MyVariant Identifiers: chr11:g.1775263C>T (hg19) ; chr11:g.1754033C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1754033C>T , CM000673.2:g.1754033C>T	GRCh38
NC_000011.9:g.1775263C>T , CM000673.1:g.1775263C>T	GRCh37
NC_000011.8:g.1731839C>T	NCBI36
NG_008655.1:g.14960G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.933G>A MANE Select	ENSP00000236671.2:p.Leu311=
ENST00000367196.4:c.828G>A	ENSP00000356164.4:p.Leu276=
ENST00000427721.3:c.358G>A
ENST00000429746.2:c.828G>A	ENSP00000402586.2:p.Leu276=
ENST00000433655.6:c.*99G>A	ENSP00000404902.1:n.*99G>A
ENST00000438213.6:c.1050G>A	ENSP00000415036.2:p.Leu350=
ENST00000497544.3:n.549G>A
ENST00000636397.1:c.933G>A	ENSP00000489910.1:p.Leu311=
ENST00000636571.1:c.912G>A	ENSP00000490770.1:p.Leu304=
ENST00000636615.1:c.933G>A	ENSP00000490014.1:p.Leu311=
ENST00000636843.1:c.927G>A	ENSP00000490897.1:p.Leu309=
ENST00000637158.1:n.531G>A
ENST00000637381.2:n.3361G>A
ENST00000637387.1:c.933G>A	ENSP00000490598.1:p.Leu311=
ENST00000637815.2:c.915G>A	ENSP00000490344.1:p.Leu305=
ENST00000637915.1:c.933G>A	ENSP00000490471.1:p.Leu311=
ENST00000637937.1:n.241G>A
ENST00000678991.1:c.*794G>A	ENSP00000503019.1:n.*794G>A
ENST00000236671.6:c.933G>A	ENSP00000236671.2:p.Leu311=
ENST00000427721.2:c.333G>A	ENSP00000415840.2:p.Leu111=
ENST00000429746.1:c.264G>A	ENSP00000402586.1:p.Leu88=
ENST00000433655.5:c.*99G>A	ENSP00000404902.1:n.*99G>A
ENST00000438213.5:c.888G>A	ENSP00000415036.1:p.Leu296=
ENST00000497544.1:n.549G>A
NM_001909.4:c.933G>A	NP_001900.1:p.Leu311=
NM_001909.5:c.933G>A MANE Select	NP_001900.1:p.Leu311=