Canonical Allele Identifier: CA2611922126
Gene: CTSD HGNC NCBI

Linked Data

gnomAD v4: 11-1757302-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1757302G>C , CM000673.2:g.1757302G>C GRCh38
NC_000011.9:g.1778532G>C , CM000673.1:g.1778532G>C GRCh37
NC_000011.8:g.1735108G>C NCBI36
NG_008655.1:g.11691C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000236671.7:c.704+22C>G MANE Select ENSP00000236671.2:n.704+22C>G
ENST00000367196.4:c.599+22C>G ENSP00000356164.4:n.599+22C>G
ENST00000427721.3:c.129+22C>G
ENST00000429746.2:c.599+22C>G ENSP00000402586.2:n.599+22C>G
ENST00000433655.6:c.704+22C>G ENSP00000404902.1:n.704+22C>G
ENST00000438213.6:c.704+22C>G ENSP00000415036.2:n.704+22C>G
ENST00000636397.1:c.704+22C>G ENSP00000489910.1:n.704+22C>G
ENST00000636571.1:c.683+22C>G ENSP00000490770.1:n.683+22C>G
ENST00000636615.1:c.704+22C>G ENSP00000490014.1:n.704+22C>G
ENST00000636843.1:c.698+22C>G ENSP00000490897.1:n.698+22C>G
ENST00000637158.1:n.302+22C>G
ENST00000637381.2:n.3132+22C>G
ENST00000637387.1:c.704+22C>G ENSP00000490598.1:n.704+22C>G
ENST00000637815.2:c.704+22C>G ENSP00000490344.1:n.704+22C>G
ENST00000637915.1:c.704+22C>G ENSP00000490471.1:n.704+22C>G
ENST00000678991.1:c.*565+22C>G ENSP00000503019.1:n.*565+22C>G
ENST00000236671.6:c.704+22C>G ENSP00000236671.2:n.704+22C>G
ENST00000427721.2:c.104+22C>G ENSP00000415840.2:n.104+22C>G
ENST00000433655.5:c.704+22C>G ENSP00000404902.1:n.704+22C>G
ENST00000438213.5:c.659+22C>G ENSP00000415036.1:n.659+22C>G
NM_001909.4:c.704+22C>G NP_001900.1:n.704+22C>G
NM_001909.5:c.704+22C>G MANE Select NP_001900.1:n.704+22C>G