Canonical Allele Identifier: CA342322479
Gene: CTSS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.150733131A>C , CM000663.2:g.150733131A>C GRCh38
NC_000001.10:g.150705607A>C , CM000663.1:g.150705607A>C GRCh37
NC_000001.9:g.148972231A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000368985.8:c.911T>G MANE Select ENSP00000357981.3:p.Phe304Cys
ENST00000448301.7:c.683T>G ENSP00000408414.2:p.Phe228Cys
ENST00000472977.7:c.911T>G ENSP00000475176.2:p.Phe304Cys
ENST00000483930.2:c.*105T>G ENSP00000475812.2:n.*105T>G
ENST00000607427.2:c.911T>G ENSP00000475557.2:p.Phe304Cys
ENST00000679512.1:c.808T>G ENSP00000505113.1:p.Leu270Val
ENST00000679898.1:c.638T>G ENSP00000505326.1:p.Phe213Cys
ENST00000680288.1:c.761T>G ENSP00000506001.1:p.Phe254Cys
ENST00000680311.1:c.642T>G ENSP00000505020.1:p.Leu214=
ENST00000680471.1:c.*82T>G ENSP00000506603.1:n.*82T>G
ENST00000680664.1:c.734T>G ENSP00000506248.1:p.Phe245Cys
ENST00000680931.1:c.*261T>G ENSP00000504934.1:n.*261T>G
ENST00000681357.1:n.301T>G
ENST00000681444.1:c.911T>G ENSP00000505359.1:p.Phe304Cys
ENST00000368985.7:c.911T>G ENSP00000357981.3:p.Phe304Cys
ENST00000448301.6:c.761T>G ENSP00000408414.1:p.Phe254Cys
ENST00000472977.6:c.204T>G
ENST00000483930.1:c.459T>G ENSP00000475812.1:n.459T>G
NM_001199739.1:c.761T>G NP_001186668.1:p.Phe254Cys
NM_004079.4:c.911T>G NP_004070.3:p.Phe304Cys
NM_004079.5:c.911T>G MANE Select NP_004070.3:p.Phe304Cys
NM_001199739.2:c.761T>G NP_001186668.1:p.Phe254Cys