Canonical Allele Identifier: CA2611928091
Gene: CTSD HGNC NCBI

Linked Data

dbSNP Id: rs2133657773
gnomAD v4: 11-1753986-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1753986G>C , CM000673.2:g.1753986G>C GRCh38
NC_000011.9:g.1775216G>C , CM000673.1:g.1775216G>C GRCh37
NC_000011.8:g.1731792G>C NCBI36
NG_008655.1:g.15007C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000236671.7:c.972+8C>G MANE Select ENSP00000236671.2:n.972+8C>G
ENST00000367196.4:c.867+8C>G ENSP00000356164.4:n.867+8C>G
ENST00000427721.3:c.397+8C>G
ENST00000429746.2:c.867+8C>G ENSP00000402586.2:n.867+8C>G
ENST00000433655.6:c.*138+8C>G ENSP00000404902.1:n.*138+8C>G
ENST00000438213.6:c.1089+8C>G ENSP00000415036.2:n.1089+8C>G
ENST00000497544.3:n.596C>G
ENST00000636397.1:c.972+8C>G ENSP00000489910.1:n.972+8C>G
ENST00000636571.1:c.951+8C>G ENSP00000490770.1:n.951+8C>G
ENST00000636615.1:c.972+8C>G ENSP00000490014.1:n.972+8C>G
ENST00000636843.1:c.966+8C>G ENSP00000490897.1:n.966+8C>G
ENST00000637158.1:n.570+8C>G
ENST00000637381.2:n.3400+8C>G
ENST00000637387.1:c.972+8C>G ENSP00000490598.1:n.972+8C>G
ENST00000637815.2:c.954+8C>G ENSP00000490344.1:n.954+8C>G
ENST00000637915.1:c.972+8C>G ENSP00000490471.1:n.972+8C>G
ENST00000637937.1:n.280+8C>G
ENST00000678991.1:c.*833+8C>G ENSP00000503019.1:n.*833+8C>G
ENST00000236671.6:c.972+8C>G ENSP00000236671.2:n.972+8C>G
ENST00000427721.2:c.372+8C>G ENSP00000415840.2:n.372+8C>G
ENST00000429746.1:c.303+8C>G ENSP00000402586.1:n.303+8C>G
ENST00000433655.5:c.*138+8C>G ENSP00000404902.1:n.*138+8C>G
ENST00000497544.1:n.596C>G
NM_001909.4:c.972+8C>G NP_001900.1:n.972+8C>G
NM_001909.5:c.972+8C>G MANE Select NP_001900.1:n.972+8C>G