Canonical Allele Identifier: CA379093620
Gene: CTSD HGNC NCBI

Linked Data

gnomAD v3: 11-1754019-C-G
gnomAD v4: 11-1754019-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1754019C>G , CM000673.2:g.1754019C>G GRCh38
NC_000011.9:g.1775249C>G , CM000673.1:g.1775249C>G GRCh37
NC_000011.8:g.1731825C>G NCBI36
NG_008655.1:g.14974G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000236671.7:c.947G>C MANE Select ENSP00000236671.2:p.Gly316Ala
ENST00000367196.4:c.842G>C ENSP00000356164.4:p.Gly281Ala
ENST00000427721.3:c.372G>C
ENST00000429746.2:c.842G>C ENSP00000402586.2:p.Gly281Ala
ENST00000433655.6:c.*113G>C ENSP00000404902.1:n.*113G>C
ENST00000438213.6:c.1064G>C ENSP00000415036.2:p.Gly355Ala
ENST00000497544.3:n.563G>C
ENST00000636397.1:c.947G>C ENSP00000489910.1:p.Gly316Ala
ENST00000636571.1:c.926G>C ENSP00000490770.1:p.Gly309Ala
ENST00000636615.1:c.947G>C ENSP00000490014.1:p.Gly316Ala
ENST00000636843.1:c.941G>C ENSP00000490897.1:p.Gly314Ala
ENST00000637158.1:n.545G>C
ENST00000637381.2:n.3375G>C
ENST00000637387.1:c.947G>C ENSP00000490598.1:p.Gly316Ala
ENST00000637815.2:c.929G>C ENSP00000490344.1:p.Gly310Ala
ENST00000637915.1:c.947G>C ENSP00000490471.1:p.Gly316Ala
ENST00000637937.1:n.255G>C
ENST00000678991.1:c.*808G>C ENSP00000503019.1:n.*808G>C
ENST00000236671.6:c.947G>C ENSP00000236671.2:p.Gly316Ala
ENST00000427721.2:c.347G>C ENSP00000415840.2:p.Gly116Ala
ENST00000429746.1:c.278G>C ENSP00000402586.1:p.Gly93Ala
ENST00000433655.5:c.*113G>C ENSP00000404902.1:n.*113G>C
ENST00000497544.1:n.563G>C
NM_001909.4:c.947G>C NP_001900.1:p.Gly316Ala
NM_001909.5:c.947G>C MANE Select NP_001900.1:p.Gly316Ala