Canonical Allele Identifier: CA379093632

Gene: CTSD

Linked Data

• dbSNP Id: rs752172496
• gnomAD v3: 11-1754021-G-C
• gnomAD v4: 11-1754021-G-C
• MyVariant Identifiers: chr11:g.1775251G>C (hg19) ; chr11:g.1754021G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1754021G>C , CM000673.2:g.1754021G>C	GRCh38
NC_000011.9:g.1775251G>C , CM000673.1:g.1775251G>C	GRCh37
NC_000011.8:g.1731827G>C	NCBI36
NG_008655.1:g.14972C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.945C>G MANE Select	ENSP00000236671.2:p.Ile315Met
ENST00000367196.4:c.840C>G	ENSP00000356164.4:p.Ile280Met
ENST00000427721.3:c.370C>G
ENST00000429746.2:c.840C>G	ENSP00000402586.2:p.Ile280Met
ENST00000433655.6:c.*111C>G	ENSP00000404902.1:n.*111C>G
ENST00000438213.6:c.1062C>G	ENSP00000415036.2:p.Ile354Met
ENST00000497544.3:n.561C>G
ENST00000636397.1:c.945C>G	ENSP00000489910.1:p.Ile315Met
ENST00000636571.1:c.924C>G	ENSP00000490770.1:p.Ile308Met
ENST00000636615.1:c.945C>G	ENSP00000490014.1:p.Ile315Met
ENST00000636843.1:c.939C>G	ENSP00000490897.1:p.Ile313Met
ENST00000637158.1:n.543C>G
ENST00000637381.2:n.3373C>G
ENST00000637387.1:c.945C>G	ENSP00000490598.1:p.Ile315Met
ENST00000637815.2:c.927C>G	ENSP00000490344.1:p.Ile309Met
ENST00000637915.1:c.945C>G	ENSP00000490471.1:p.Ile315Met
ENST00000637937.1:n.253C>G
ENST00000678991.1:c.*806C>G	ENSP00000503019.1:n.*806C>G
ENST00000236671.6:c.945C>G	ENSP00000236671.2:p.Ile315Met
ENST00000427721.2:c.345C>G	ENSP00000415840.2:p.Ile115Met
ENST00000429746.1:c.276C>G	ENSP00000402586.1:p.Ile92Met
ENST00000433655.5:c.*111C>G	ENSP00000404902.1:n.*111C>G
ENST00000497544.1:n.561C>G
NM_001909.4:c.945C>G	NP_001900.1:p.Ile315Met
NM_001909.5:c.945C>G MANE Select	NP_001900.1:p.Ile315Met