Canonical Allele Identifier: CA342322382
Gene: CTSS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.150733089T>A , CM000663.2:g.150733089T>A GRCh38
NC_000001.10:g.150705565T>A , CM000663.1:g.150705565T>A GRCh37
NC_000001.9:g.148972189T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000368985.8:c.953A>T MANE Select ENSP00000357981.3:p.Asn318Ile
ENST00000448301.7:c.725A>T ENSP00000408414.2:p.Asn242Ile
ENST00000472977.7:c.953A>T ENSP00000475176.2:p.Asn318Ile
ENST00000483930.2:c.*147A>T ENSP00000475812.2:n.*147A>T
ENST00000607427.2:c.953A>T ENSP00000475557.2:p.Asn318Ile
ENST00000679512.1:c.850A>T ENSP00000505113.1:p.Ile284Phe
ENST00000679898.1:c.680A>T ENSP00000505326.1:p.Asn227Ile
ENST00000680288.1:c.803A>T ENSP00000506001.1:p.Asn268Ile
ENST00000680311.1:c.*36A>T ENSP00000505020.1:n.*36A>T
ENST00000680471.1:c.*124A>T ENSP00000506603.1:n.*124A>T
ENST00000680664.1:c.776A>T ENSP00000506248.1:p.Asn259Ile
ENST00000680931.1:c.*303A>T ENSP00000504934.1:n.*303A>T
ENST00000681357.1:n.343A>T
ENST00000681444.1:c.953A>T ENSP00000505359.1:p.Asn318Ile
ENST00000368985.7:c.953A>T ENSP00000357981.3:p.Asn318Ile
ENST00000448301.6:c.803A>T ENSP00000408414.1:p.Asn268Ile
ENST00000472977.6:c.246A>T
ENST00000483930.1:c.501A>T ENSP00000475812.1:n.501A>T
NM_001199739.1:c.803A>T NP_001186668.1:p.Asn268Ile
NM_004079.4:c.953A>T NP_004070.3:p.Asn318Ile
NM_004079.5:c.953A>T MANE Select NP_004070.3:p.Asn318Ile
NM_001199739.2:c.803A>T NP_001186668.1:p.Asn268Ile