Canonical Allele Identifier: CA379093601

Gene: CTSD

Linked Data

• gnomAD v4: 11-1754014-C-G
• MyVariant Identifiers: chr11:g.1775244C>G (hg19) ; chr11:g.1754014C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1754014C>G , CM000673.2:g.1754014C>G	GRCh38
NC_000011.9:g.1775244C>G , CM000673.1:g.1775244C>G	GRCh37
NC_000011.8:g.1731820C>G	NCBI36
NG_008655.1:g.14979G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.952G>C MANE Select	ENSP00000236671.2:p.Val318Leu
ENST00000367196.4:c.847G>C	ENSP00000356164.4:p.Val283Leu
ENST00000427721.3:c.377G>C
ENST00000429746.2:c.847G>C	ENSP00000402586.2:p.Val283Leu
ENST00000433655.6:c.*118G>C	ENSP00000404902.1:n.*118G>C
ENST00000438213.6:c.1069G>C	ENSP00000415036.2:p.Val357Leu
ENST00000497544.3:n.568G>C
ENST00000636397.1:c.952G>C	ENSP00000489910.1:p.Val318Leu
ENST00000636571.1:c.931G>C	ENSP00000490770.1:p.Val311Leu
ENST00000636615.1:c.952G>C	ENSP00000490014.1:p.Val318Leu
ENST00000636843.1:c.946G>C	ENSP00000490897.1:p.Val316Leu
ENST00000637158.1:n.550G>C
ENST00000637381.2:n.3380G>C
ENST00000637387.1:c.952G>C	ENSP00000490598.1:p.Val318Leu
ENST00000637815.2:c.934G>C	ENSP00000490344.1:p.Val312Leu
ENST00000637915.1:c.952G>C	ENSP00000490471.1:p.Val318Leu
ENST00000637937.1:n.260G>C
ENST00000678991.1:c.*813G>C	ENSP00000503019.1:n.*813G>C
ENST00000236671.6:c.952G>C	ENSP00000236671.2:p.Val318Leu
ENST00000427721.2:c.352G>C	ENSP00000415840.2:p.Val118Leu
ENST00000429746.1:c.283G>C	ENSP00000402586.1:p.Val95Leu
ENST00000433655.5:c.*118G>C	ENSP00000404902.1:n.*118G>C
ENST00000497544.1:n.568G>C
NM_001909.4:c.952G>C	NP_001900.1:p.Val318Leu
NM_001909.5:c.952G>C MANE Select	NP_001900.1:p.Val318Leu