Canonical Allele Identifier: CA342322283
Gene: CTSS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.150733047T>A , CM000663.2:g.150733047T>A GRCh38
NC_000001.10:g.150705523T>A , CM000663.1:g.150705523T>A GRCh37
NC_000001.9:g.148972147T>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000368985.8:c.995A>T MANE Select ENSP00000357981.3:p.Ter332Leu
ENST00000448301.7:c.767A>T ENSP00000408414.2:p.Ter256Leu
ENST00000472977.7:c.995A>T ENSP00000475176.2:p.Ter332Leu
ENST00000483930.2:c.*189A>T ENSP00000475812.2:n.*189A>T
ENST00000607427.2:c.995A>T ENSP00000475557.2:p.Ter332Leu
ENST00000679512.1:c.892A>T ENSP00000505113.1:p.Arg298Ter
ENST00000679898.1:c.722A>T ENSP00000505326.1:p.Ter241Leu
ENST00000680288.1:c.845A>T ENSP00000506001.1:p.Ter282Leu
ENST00000680311.1:c.*78A>T ENSP00000505020.1:n.*78A>T
ENST00000680471.1:c.*166A>T ENSP00000506603.1:n.*166A>T
ENST00000680664.1:c.818A>T ENSP00000506248.1:p.Ter273Leu
ENST00000680931.1:c.*345A>T ENSP00000504934.1:n.*345A>T
ENST00000681357.1:n.385A>T
ENST00000681444.1:c.995A>T ENSP00000505359.1:p.Ter332Leu
ENST00000368985.7:c.995A>T ENSP00000357981.3:p.Ter332Leu
ENST00000448301.6:c.845A>T ENSP00000408414.1:p.Ter282Leu
ENST00000472977.6:c.288A>T
ENST00000483930.1:c.543A>T ENSP00000475812.1:n.543A>T
ENST00000607427.1:c.16A>T
NM_001199739.1:c.845A>T NP_001186668.1:p.Ter282Leu
NM_004079.4:c.995A>T NP_004070.3:p.Ter332Leu
NM_004079.5:c.995A>T MANE Select NP_004070.3:p.Ter332Leu
NM_001199739.2:c.845A>T NP_001186668.1:p.Ter282Leu