Canonical Allele Identifier: CA342322478
Gene: CTSS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.150733130A>C , CM000663.2:g.150733130A>C GRCh38
NC_000001.10:g.150705606A>C , CM000663.1:g.150705606A>C GRCh37
NC_000001.9:g.148972230A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000368985.8:c.912T>G MANE Select ENSP00000357981.3:p.Phe304Leu
ENST00000448301.7:c.684T>G ENSP00000408414.2:p.Phe228Leu
ENST00000472977.7:c.912T>G ENSP00000475176.2:p.Phe304Leu
ENST00000483930.2:c.*106T>G ENSP00000475812.2:n.*106T>G
ENST00000607427.2:c.912T>G ENSP00000475557.2:p.Phe304Leu
ENST00000679512.1:c.809T>G ENSP00000505113.1:p.Leu270Trp
ENST00000679898.1:c.639T>G ENSP00000505326.1:p.Phe213Leu
ENST00000680288.1:c.762T>G ENSP00000506001.1:p.Phe254Leu
ENST00000680311.1:c.643T>G ENSP00000505020.1:p.Trp215Gly
ENST00000680471.1:c.*83T>G ENSP00000506603.1:n.*83T>G
ENST00000680664.1:c.735T>G ENSP00000506248.1:p.Phe245Leu
ENST00000680931.1:c.*262T>G ENSP00000504934.1:n.*262T>G
ENST00000681357.1:n.302T>G
ENST00000681444.1:c.912T>G ENSP00000505359.1:p.Phe304Leu
ENST00000368985.7:c.912T>G ENSP00000357981.3:p.Phe304Leu
ENST00000448301.6:c.762T>G ENSP00000408414.1:p.Phe254Leu
ENST00000472977.6:c.205T>G
ENST00000483930.1:c.460T>G ENSP00000475812.1:n.460T>G
NM_001199739.1:c.762T>G NP_001186668.1:p.Phe254Leu
NM_004079.4:c.912T>G NP_004070.3:p.Phe304Leu
NM_004079.5:c.912T>G MANE Select NP_004070.3:p.Phe304Leu
NM_001199739.2:c.762T>G NP_001186668.1:p.Phe254Leu