Canonical Allele Identifier: CA934407593
Gene: CTSD HGNC NCBI

Linked Data

dbSNP Id: rs1845852080
gnomAD v3: 11-1759704-A-G
gnomAD v4: 11-1759704-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1759704A>G , CM000673.2:g.1759704A>G GRCh38
NC_000011.9:g.1780934A>G , CM000673.1:g.1780934A>G GRCh37
NC_000011.8:g.1737510A>G NCBI36
NG_008655.1:g.9289T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000236671.7:c.229-65T>C MANE Select ENSP00000236671.2:n.229-65T>C
ENST00000367196.4:c.124-65T>C ENSP00000356164.4:n.124-65T>C
ENST00000429746.2:c.124-65T>C ENSP00000402586.2:n.124-65T>C
ENST00000433655.6:c.229-65T>C ENSP00000404902.1:n.229-65T>C
ENST00000438213.6:c.229-65T>C ENSP00000415036.2:n.229-65T>C
ENST00000636397.1:c.229-65T>C ENSP00000489910.1:n.229-65T>C
ENST00000636571.1:c.208-65T>C ENSP00000490770.1:n.208-65T>C
ENST00000636615.1:c.229-65T>C ENSP00000490014.1:n.229-65T>C
ENST00000636843.1:c.229-71T>C ENSP00000490897.1:n.229-71T>C
ENST00000637381.2:n.2657-65T>C
ENST00000637387.1:c.229-65T>C ENSP00000490598.1:n.229-65T>C
ENST00000637815.2:c.229-65T>C ENSP00000490344.1:n.229-65T>C
ENST00000637915.1:c.229-65T>C ENSP00000490471.1:n.229-65T>C
ENST00000677300.1:n.624-65T>C
ENST00000678991.1:c.*90-65T>C ENSP00000503019.1:n.*90-65T>C
ENST00000236671.6:c.229-65T>C ENSP00000236671.2:n.229-65T>C
ENST00000367196.3:c.124-65T>C ENSP00000356164.3:n.124-65T>C
ENST00000433655.5:c.229-65T>C ENSP00000404902.1:n.229-65T>C
ENST00000438213.5:c.184-65T>C ENSP00000415036.1:n.184-65T>C
NM_001909.4:c.229-65T>C NP_001900.1:n.229-65T>C
NM_001909.5:c.229-65T>C MANE Select NP_001900.1:n.229-65T>C