Canonical Allele Identifier: CA342322484
Gene: CTSS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.150733132A>T , CM000663.2:g.150733132A>T GRCh38
NC_000001.10:g.150705608A>T , CM000663.1:g.150705608A>T GRCh37
NC_000001.9:g.148972232A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000368985.8:c.910T>A MANE Select ENSP00000357981.3:p.Phe304Ile
ENST00000448301.7:c.682T>A ENSP00000408414.2:p.Phe228Ile
ENST00000472977.7:c.910T>A ENSP00000475176.2:p.Phe304Ile
ENST00000483930.2:c.*104T>A ENSP00000475812.2:n.*104T>A
ENST00000607427.2:c.910T>A ENSP00000475557.2:p.Phe304Ile
ENST00000679512.1:c.807T>A ENSP00000505113.1:p.Thr269=
ENST00000679898.1:c.637T>A ENSP00000505326.1:p.Phe213Ile
ENST00000680288.1:c.760T>A ENSP00000506001.1:p.Phe254Ile
ENST00000680311.1:c.641T>A ENSP00000505020.1:p.Leu214His
ENST00000680471.1:c.*81T>A ENSP00000506603.1:n.*81T>A
ENST00000680664.1:c.733T>A ENSP00000506248.1:p.Phe245Ile
ENST00000680931.1:c.*260T>A ENSP00000504934.1:n.*260T>A
ENST00000681357.1:n.300T>A
ENST00000681444.1:c.910T>A ENSP00000505359.1:p.Phe304Ile
ENST00000368985.7:c.910T>A ENSP00000357981.3:p.Phe304Ile
ENST00000448301.6:c.760T>A ENSP00000408414.1:p.Phe254Ile
ENST00000472977.6:c.203T>A
ENST00000483930.1:c.458T>A ENSP00000475812.1:n.458T>A
NM_001199739.1:c.760T>A NP_001186668.1:p.Phe254Ile
NM_004079.4:c.910T>A NP_004070.3:p.Phe304Ile
NM_004079.5:c.910T>A MANE Select NP_004070.3:p.Phe304Ile
NM_001199739.2:c.760T>A NP_001186668.1:p.Phe254Ile