Canonical Allele Identifier: CA290555
Gene: CTSD HGNC NCBI

Linked Data

ClinVar Variation Id: 137060
dbSNP Id: rs146073498
gnomAD v2: 11-1778619-G-C
gnomAD v3: 11-1757389-G-C
gnomAD v4: 11-1757389-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1757389G>C , CM000673.2:g.1757389G>C GRCh38
NC_000011.9:g.1778619G>C , CM000673.1:g.1778619G>C GRCh37
NC_000011.8:g.1735195G>C NCBI36
NG_008655.1:g.11604C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000236671.7:c.639C>G MANE Select ENSP00000236671.2:p.Pro213=
ENST00000367196.4:c.534C>G ENSP00000356164.4:p.Pro178=
ENST00000427721.3:c.64C>G
ENST00000429746.2:c.534C>G ENSP00000402586.2:p.Pro178=
ENST00000433655.6:c.639C>G ENSP00000404902.1:p.Pro213=
ENST00000438213.6:c.639C>G ENSP00000415036.2:p.Pro213=
ENST00000636397.1:c.639C>G ENSP00000489910.1:p.Pro213=
ENST00000636571.1:c.618C>G ENSP00000490770.1:p.Pro206=
ENST00000636615.1:c.639C>G ENSP00000490014.1:p.Pro213=
ENST00000636843.1:c.633C>G ENSP00000490897.1:p.Pro211=
ENST00000637158.1:n.237C>G
ENST00000637381.2:n.3067C>G
ENST00000637387.1:c.639C>G ENSP00000490598.1:p.Pro213=
ENST00000637815.2:c.639C>G ENSP00000490344.1:p.Pro213=
ENST00000637915.1:c.639C>G ENSP00000490471.1:p.Pro213=
ENST00000677300.1:n.1034C>G
ENST00000678991.1:c.*500C>G ENSP00000503019.1:n.*500C>G
ENST00000236671.6:c.639C>G ENSP00000236671.2:p.Pro213=
ENST00000367196.3:c.534C>G ENSP00000356164.3:p.Pro178=
ENST00000427721.2:c.39C>G ENSP00000415840.2:p.Pro13=
ENST00000433655.5:c.639C>G ENSP00000404902.1:p.Pro213=
ENST00000438213.5:c.594C>G ENSP00000415036.1:p.Pro198=
NM_001909.4:c.639C>G NP_001900.1:p.Pro213=
NM_001909.5:c.639C>G MANE Select NP_001900.1:p.Pro213=