Canonical Allele Identifier: CA342322365
Gene: CTSS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.150733082A>C , CM000663.2:g.150733082A>C GRCh38
NC_000001.10:g.150705558A>C , CM000663.1:g.150705558A>C GRCh37
NC_000001.9:g.148972182A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000368985.8:c.960T>G MANE Select ENSP00000357981.3:p.Cys320Trp
ENST00000448301.7:c.732T>G ENSP00000408414.2:p.Cys244Trp
ENST00000472977.7:c.960T>G ENSP00000475176.2:p.Cys320Trp
ENST00000483930.2:c.*154T>G ENSP00000475812.2:n.*154T>G
ENST00000607427.2:c.960T>G ENSP00000475557.2:p.Cys320Trp
ENST00000679512.1:c.857T>G ENSP00000505113.1:p.Val286Gly
ENST00000679898.1:c.687T>G ENSP00000505326.1:p.Cys229Trp
ENST00000680288.1:c.810T>G ENSP00000506001.1:p.Cys270Trp
ENST00000680311.1:c.*43T>G ENSP00000505020.1:n.*43T>G
ENST00000680471.1:c.*131T>G ENSP00000506603.1:n.*131T>G
ENST00000680664.1:c.783T>G ENSP00000506248.1:p.Cys261Trp
ENST00000680931.1:c.*310T>G ENSP00000504934.1:n.*310T>G
ENST00000681357.1:n.350T>G
ENST00000681444.1:c.960T>G ENSP00000505359.1:p.Cys320Trp
ENST00000368985.7:c.960T>G ENSP00000357981.3:p.Cys320Trp
ENST00000448301.6:c.810T>G ENSP00000408414.1:p.Cys270Trp
ENST00000472977.6:c.253T>G
ENST00000483930.1:c.508T>G ENSP00000475812.1:n.508T>G
NM_001199739.1:c.810T>G NP_001186668.1:p.Cys270Trp
NM_004079.4:c.960T>G NP_004070.3:p.Cys320Trp
NM_004079.5:c.960T>G MANE Select NP_004070.3:p.Cys320Trp
NM_001199739.2:c.810T>G NP_001186668.1:p.Cys270Trp