Canonical Allele Identifier: CA5813991
Gene: CTSD HGNC NCBI

Linked Data

dbSNP Id: rs766338105
gnomAD v2: 11-1775243-A-C
gnomAD v4: 11-1754013-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1754013A>C , CM000673.2:g.1754013A>C GRCh38
NC_000011.9:g.1775243A>C , CM000673.1:g.1775243A>C GRCh37
NC_000011.8:g.1731819A>C NCBI36
NG_008655.1:g.14980T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000236671.7:c.953T>G MANE Select ENSP00000236671.2:p.Val318Gly
ENST00000367196.4:c.848T>G ENSP00000356164.4:p.Val283Gly
ENST00000427721.3:c.378T>G
ENST00000429746.2:c.848T>G ENSP00000402586.2:p.Val283Gly
ENST00000433655.6:c.*119T>G ENSP00000404902.1:n.*119T>G
ENST00000438213.6:c.1070T>G ENSP00000415036.2:p.Val357Gly
ENST00000497544.3:n.569T>G
ENST00000636397.1:c.953T>G ENSP00000489910.1:p.Val318Gly
ENST00000636571.1:c.932T>G ENSP00000490770.1:p.Val311Gly
ENST00000636615.1:c.953T>G ENSP00000490014.1:p.Val318Gly
ENST00000636843.1:c.947T>G ENSP00000490897.1:p.Val316Gly
ENST00000637158.1:n.551T>G
ENST00000637381.2:n.3381T>G
ENST00000637387.1:c.953T>G ENSP00000490598.1:p.Val318Gly
ENST00000637815.2:c.935T>G ENSP00000490344.1:p.Val312Gly
ENST00000637915.1:c.953T>G ENSP00000490471.1:p.Val318Gly
ENST00000637937.1:n.261T>G
ENST00000678991.1:c.*814T>G ENSP00000503019.1:n.*814T>G
ENST00000236671.6:c.953T>G ENSP00000236671.2:p.Val318Gly
ENST00000427721.2:c.353T>G ENSP00000415840.2:p.Val118Gly
ENST00000429746.1:c.284T>G ENSP00000402586.1:p.Val95Gly
ENST00000433655.5:c.*119T>G ENSP00000404902.1:n.*119T>G
ENST00000497544.1:n.569T>G
NM_001909.4:c.953T>G NP_001900.1:p.Val318Gly
NM_001909.5:c.953T>G MANE Select NP_001900.1:p.Val318Gly