Canonical Allele Identifier: CA5813988

Gene: CTSD

Linked Data

• dbSNP Id: rs772151839
• ExAC: 11:1775233 A / C
• gnomAD v2: 11-1775233-A-C
• gnomAD v4: 11-1754003-A-C
• MyVariant Identifiers: chr11:g.1775233A>C (hg19) ; chr11:g.1754003A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1754003A>C , CM000673.2:g.1754003A>C	GRCh38
NC_000011.9:g.1775233A>C , CM000673.1:g.1775233A>C	GRCh37
NC_000011.8:g.1731809A>C	NCBI36
NG_008655.1:g.14990T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.963T>G MANE Select	ENSP00000236671.2:p.Ile321Met
ENST00000367196.4:c.858T>G	ENSP00000356164.4:p.Ile286Met
ENST00000427721.3:c.388T>G
ENST00000429746.2:c.858T>G	ENSP00000402586.2:p.Ile286Met
ENST00000433655.6:c.*129T>G	ENSP00000404902.1:n.*129T>G
ENST00000438213.6:c.1080T>G	ENSP00000415036.2:p.Ile360Met
ENST00000497544.3:n.579T>G
ENST00000636397.1:c.963T>G	ENSP00000489910.1:p.Ile321Met
ENST00000636571.1:c.942T>G	ENSP00000490770.1:p.Ile314Met
ENST00000636615.1:c.963T>G	ENSP00000490014.1:p.Ile321Met
ENST00000636843.1:c.957T>G	ENSP00000490897.1:p.Ile319Met
ENST00000637158.1:n.561T>G
ENST00000637381.2:n.3391T>G
ENST00000637387.1:c.963T>G	ENSP00000490598.1:p.Ile321Met
ENST00000637815.2:c.945T>G	ENSP00000490344.1:p.Ile315Met
ENST00000637915.1:c.963T>G	ENSP00000490471.1:p.Ile321Met
ENST00000637937.1:n.271T>G
ENST00000678991.1:c.*824T>G	ENSP00000503019.1:n.*824T>G
ENST00000236671.6:c.963T>G	ENSP00000236671.2:p.Ile321Met
ENST00000427721.2:c.363T>G	ENSP00000415840.2:p.Ile121Met
ENST00000429746.1:c.294T>G	ENSP00000402586.1:p.Ile98Met
ENST00000433655.5:c.*129T>G	ENSP00000404902.1:n.*129T>G
ENST00000497544.1:n.579T>G
NM_001909.4:c.963T>G	NP_001900.1:p.Ile321Met
NM_001909.5:c.963T>G MANE Select	NP_001900.1:p.Ile321Met