Canonical Allele Identifier: CA2611927888
Gene: CTSD HGNC NCBI

Linked Data

gnomAD v4: 11-1753957-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1753957G>A , CM000673.2:g.1753957G>A GRCh38
NC_000011.9:g.1775187G>A , CM000673.1:g.1775187G>A GRCh37
NC_000011.8:g.1731763G>A NCBI36
NG_008655.1:g.15036C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000236671.7:c.972+37C>T MANE Select ENSP00000236671.2:n.972+37C>T
ENST00000367196.4:c.867+37C>T ENSP00000356164.4:n.867+37C>T
ENST00000427721.3:c.397+37C>T
ENST00000429746.2:c.867+37C>T ENSP00000402586.2:n.867+37C>T
ENST00000433655.6:c.*138+37C>T ENSP00000404902.1:n.*138+37C>T
ENST00000438213.6:c.1089+37C>T ENSP00000415036.2:n.1089+37C>T
ENST00000497544.3:n.625C>T
ENST00000636397.1:c.972+37C>T ENSP00000489910.1:n.972+37C>T
ENST00000636571.1:c.951+37C>T ENSP00000490770.1:n.951+37C>T
ENST00000636615.1:c.972+37C>T ENSP00000490014.1:n.972+37C>T
ENST00000636843.1:c.966+37C>T ENSP00000490897.1:n.966+37C>T
ENST00000637158.1:n.570+37C>T
ENST00000637381.2:n.3400+37C>T
ENST00000637387.1:c.972+37C>T ENSP00000490598.1:n.972+37C>T
ENST00000637815.2:c.954+37C>T ENSP00000490344.1:n.954+37C>T
ENST00000637915.1:c.972+37C>T ENSP00000490471.1:n.972+37C>T
ENST00000637937.1:n.280+37C>T
ENST00000678991.1:c.*833+37C>T ENSP00000503019.1:n.*833+37C>T
ENST00000236671.6:c.972+37C>T ENSP00000236671.2:n.972+37C>T
ENST00000427721.2:c.372+37C>T ENSP00000415840.2:n.372+37C>T
ENST00000429746.1:c.303+37C>T ENSP00000402586.1:n.303+37C>T
ENST00000433655.5:c.*138+37C>T ENSP00000404902.1:n.*138+37C>T
ENST00000497544.1:n.625C>T
NM_001909.4:c.972+37C>T NP_001900.1:n.972+37C>T
NM_001909.5:c.972+37C>T MANE Select NP_001900.1:n.972+37C>T