Canonical Allele Identifier: CA342322424
Gene: CTSS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.150733106C>G , CM000663.2:g.150733106C>G GRCh38
NC_000001.10:g.150705582C>G , CM000663.1:g.150705582C>G GRCh37
NC_000001.9:g.148972206C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000368985.8:c.936G>C MANE Select ENSP00000357981.3:p.Met312Ile
ENST00000448301.7:c.708G>C ENSP00000408414.2:p.Met236Ile
ENST00000472977.7:c.936G>C ENSP00000475176.2:p.Met312Ile
ENST00000483930.2:c.*130G>C ENSP00000475812.2:n.*130G>C
ENST00000607427.2:c.936G>C ENSP00000475557.2:p.Met312Ile
ENST00000679512.1:c.833G>C ENSP00000505113.1:p.Trp278Ser
ENST00000679898.1:c.663G>C ENSP00000505326.1:p.Met221Ile
ENST00000680288.1:c.786G>C ENSP00000506001.1:p.Met262Ile
ENST00000680311.1:c.*19G>C ENSP00000505020.1:n.*19G>C
ENST00000680471.1:c.*107G>C ENSP00000506603.1:n.*107G>C
ENST00000680664.1:c.759G>C ENSP00000506248.1:p.Met253Ile
ENST00000680931.1:c.*286G>C ENSP00000504934.1:n.*286G>C
ENST00000681357.1:n.326G>C
ENST00000681444.1:c.936G>C ENSP00000505359.1:p.Met312Ile
ENST00000368985.7:c.936G>C ENSP00000357981.3:p.Met312Ile
ENST00000448301.6:c.786G>C ENSP00000408414.1:p.Met262Ile
ENST00000472977.6:c.229G>C
ENST00000483930.1:c.484G>C ENSP00000475812.1:n.484G>C
NM_001199739.1:c.786G>C NP_001186668.1:p.Met262Ile
NM_004079.4:c.936G>C NP_004070.3:p.Met312Ile
NM_004079.5:c.936G>C MANE Select NP_004070.3:p.Met312Ile
NM_001199739.2:c.786G>C NP_001186668.1:p.Met262Ile