Canonical Allele Identifier: CA342322469
Gene: CTSS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.150733126C>G , CM000663.2:g.150733126C>G GRCh38
NC_000001.10:g.150705602C>G , CM000663.1:g.150705602C>G GRCh37
NC_000001.9:g.148972226C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000368985.8:c.916G>C MANE Select ENSP00000357981.3:p.Glu306Gln
ENST00000448301.7:c.688G>C ENSP00000408414.2:p.Glu230Gln
ENST00000472977.7:c.916G>C ENSP00000475176.2:p.Glu306Gln
ENST00000483930.2:c.*110G>C ENSP00000475812.2:n.*110G>C
ENST00000607427.2:c.916G>C ENSP00000475557.2:p.Glu306Gln
ENST00000679512.1:c.813G>C ENSP00000505113.1:p.Val271=
ENST00000679898.1:c.643G>C ENSP00000505326.1:p.Glu215Gln
ENST00000680288.1:c.766G>C ENSP00000506001.1:p.Glu256Gln
ENST00000680311.1:c.647G>C ENSP00000505020.1:p.Ter216Ser
ENST00000680471.1:c.*87G>C ENSP00000506603.1:n.*87G>C
ENST00000680664.1:c.739G>C ENSP00000506248.1:p.Glu247Gln
ENST00000680931.1:c.*266G>C ENSP00000504934.1:n.*266G>C
ENST00000681357.1:n.306G>C
ENST00000681444.1:c.916G>C ENSP00000505359.1:p.Glu306Gln
ENST00000368985.7:c.916G>C ENSP00000357981.3:p.Glu306Gln
ENST00000448301.6:c.766G>C ENSP00000408414.1:p.Glu256Gln
ENST00000472977.6:c.209G>C
ENST00000483930.1:c.464G>C ENSP00000475812.1:n.464G>C
NM_001199739.1:c.766G>C NP_001186668.1:p.Glu256Gln
NM_004079.4:c.916G>C NP_004070.3:p.Glu306Gln
NM_004079.5:c.916G>C MANE Select NP_004070.3:p.Glu306Gln
NM_001199739.2:c.766G>C NP_001186668.1:p.Glu256Gln