Canonical Allele Identifier: CA342322417
Gene: CTSS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.150733104G>A , CM000663.2:g.150733104G>A GRCh38
NC_000001.10:g.150705580G>A , CM000663.1:g.150705580G>A GRCh37
NC_000001.9:g.148972204G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000368985.8:c.938C>T MANE Select ENSP00000357981.3:p.Ala313Val
ENST00000448301.7:c.710C>T ENSP00000408414.2:p.Ala237Val
ENST00000472977.7:c.938C>T ENSP00000475176.2:p.Ala313Val
ENST00000483930.2:c.*132C>T ENSP00000475812.2:n.*132C>T
ENST00000607427.2:c.938C>T ENSP00000475557.2:p.Ala313Val
ENST00000679512.1:c.835C>T ENSP00000505113.1:p.Gln279Ter
ENST00000679898.1:c.665C>T ENSP00000505326.1:p.Ala222Val
ENST00000680288.1:c.788C>T ENSP00000506001.1:p.Ala263Val
ENST00000680311.1:c.*21C>T ENSP00000505020.1:n.*21C>T
ENST00000680471.1:c.*109C>T ENSP00000506603.1:n.*109C>T
ENST00000680664.1:c.761C>T ENSP00000506248.1:p.Ala254Val
ENST00000680931.1:c.*288C>T ENSP00000504934.1:n.*288C>T
ENST00000681357.1:n.328C>T
ENST00000681444.1:c.938C>T ENSP00000505359.1:p.Ala313Val
ENST00000368985.7:c.938C>T ENSP00000357981.3:p.Ala313Val
ENST00000448301.6:c.788C>T ENSP00000408414.1:p.Ala263Val
ENST00000472977.6:c.231C>T
ENST00000483930.1:c.486C>T ENSP00000475812.1:n.486C>T
NM_001199739.1:c.788C>T NP_001186668.1:p.Ala263Val
NM_004079.4:c.938C>T NP_004070.3:p.Ala313Val
NM_004079.5:c.938C>T MANE Select NP_004070.3:p.Ala313Val
NM_001199739.2:c.788C>T NP_001186668.1:p.Ala263Val