Canonical Allele Identifier: CA342322385
Gene: CTSS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.150733090T>G , CM000663.2:g.150733090T>G GRCh38
NC_000001.10:g.150705566T>G , CM000663.1:g.150705566T>G GRCh37
NC_000001.9:g.148972190T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000368985.8:c.952A>C MANE Select ENSP00000357981.3:p.Asn318His
ENST00000448301.7:c.724A>C ENSP00000408414.2:p.Asn242His
ENST00000472977.7:c.952A>C ENSP00000475176.2:p.Asn318His
ENST00000483930.2:c.*146A>C ENSP00000475812.2:n.*146A>C
ENST00000607427.2:c.952A>C ENSP00000475557.2:p.Asn318His
ENST00000679512.1:c.849A>C ENSP00000505113.1:p.Glu283Asp
ENST00000679898.1:c.679A>C ENSP00000505326.1:p.Asn227His
ENST00000680288.1:c.802A>C ENSP00000506001.1:p.Asn268His
ENST00000680311.1:c.*35A>C ENSP00000505020.1:n.*35A>C
ENST00000680471.1:c.*123A>C ENSP00000506603.1:n.*123A>C
ENST00000680664.1:c.775A>C ENSP00000506248.1:p.Asn259His
ENST00000680931.1:c.*302A>C ENSP00000504934.1:n.*302A>C
ENST00000681357.1:n.342A>C
ENST00000681444.1:c.952A>C ENSP00000505359.1:p.Asn318His
ENST00000368985.7:c.952A>C ENSP00000357981.3:p.Asn318His
ENST00000448301.6:c.802A>C ENSP00000408414.1:p.Asn268His
ENST00000472977.6:c.245A>C
ENST00000483930.1:c.500A>C ENSP00000475812.1:n.500A>C
NM_001199739.1:c.802A>C NP_001186668.1:p.Asn268His
NM_004079.4:c.952A>C NP_004070.3:p.Asn318His
NM_004079.5:c.952A>C MANE Select NP_004070.3:p.Asn318His
NM_001199739.2:c.802A>C NP_001186668.1:p.Asn268His