Canonical Allele Identifier: CA472140894

Gene: CTSD

Linked Data

• ClinVar Variation Id: 452877
• ClinVar RCV Id: RCV000521730 ; RCV002060283
• dbSNP Id: rs1554962286
• gnomAD v4: 11-1754042-C-T
• MyVariant Identifiers: chr11:g.1775272C>T (hg19) ; chr11:g.1754042C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1754042C>T , CM000673.2:g.1754042C>T	GRCh38
NC_000011.9:g.1775272C>T , CM000673.1:g.1775272C>T	GRCh37
NC_000011.8:g.1731848C>T	NCBI36
NG_008655.1:g.14951G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.924G>A MANE Select	ENSP00000236671.2:p.Val308=
ENST00000367196.4:c.819G>A	ENSP00000356164.4:p.Val273=
ENST00000427721.3:c.349G>A
ENST00000429746.2:c.819G>A	ENSP00000402586.2:p.Val273=
ENST00000433655.6:c.*90G>A	ENSP00000404902.1:n.*90G>A
ENST00000438213.6:c.1041G>A	ENSP00000415036.2:p.Val347=
ENST00000497544.3:n.540G>A
ENST00000636397.1:c.924G>A	ENSP00000489910.1:p.Val308=
ENST00000636571.1:c.903G>A	ENSP00000490770.1:p.Val301=
ENST00000636615.1:c.924G>A	ENSP00000490014.1:p.Val308=
ENST00000636843.1:c.918G>A	ENSP00000490897.1:p.Val306=
ENST00000637158.1:n.522G>A
ENST00000637381.2:n.3352G>A
ENST00000637387.1:c.924G>A	ENSP00000490598.1:p.Val308=
ENST00000637815.2:c.906G>A	ENSP00000490344.1:p.Val302=
ENST00000637915.1:c.924G>A	ENSP00000490471.1:p.Val308=
ENST00000637937.1:n.232G>A
ENST00000678991.1:c.*785G>A	ENSP00000503019.1:n.*785G>A
ENST00000236671.6:c.924G>A	ENSP00000236671.2:p.Val308=
ENST00000427721.2:c.324G>A	ENSP00000415840.2:p.Val108=
ENST00000429746.1:c.255G>A	ENSP00000402586.1:p.Val85=
ENST00000433655.5:c.*90G>A	ENSP00000404902.1:n.*90G>A
ENST00000438213.5:c.879G>A	ENSP00000415036.1:p.Val293=
ENST00000497544.1:n.540G>A
NM_001909.4:c.924G>A	NP_001900.1:p.Val308=
NM_001909.5:c.924G>A MANE Select	NP_001900.1:p.Val308=