Canonical Allele Identifier: CA409248699
Gene: CTSA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.45892017G>T , CM000682.2:g.45892017G>T GRCh38
NC_000020.10:g.44520656G>T , CM000682.1:g.44520656G>T GRCh37
NC_000020.9:g.43954063G>T NCBI36
NG_008291.1:g.6066G>T
NG_033108.1:g.4271C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000480961.3:n.713G>T
ENST00000484855.4:n.346G>T
ENST00000493522.8:n.324G>T
ENST00000606066.3:n.713G>T
ENST00000606782.3:n.172G>T
ENST00000607187.3:n.713G>T
ENST00000607212.3:n.507G>T
ENST00000607814.7:n.473G>T
ENST00000677755.2:n.397G>T
ENST00000678622.2:n.713G>T
ENST00000678691.2:n.713G>T
ENST00000678988.2:n.1335G>T
ENST00000679053.2:n.713G>T
ENST00000679343.2:n.713G>T
ENST00000684198.1:n.713G>T
ENST00000372459.7:c.296G>T ENSP00000361537.2:p.Gly99Val
ENST00000372484.8:c.350G>T ENSP00000361562.3:p.Gly117Val
ENST00000419493.3:c.296G>T ENSP00000408533.3:p.Gly99Val
ENST00000480961.2:n.323G>T
ENST00000484855.3:n.346G>T
ENST00000493522.7:n.324G>T
ENST00000606066.2:n.361G>T
ENST00000606394.6:c.248+255G>T ENSP00000475827.1:n.248+255G>T
ENST00000606782.2:n.172G>T
ENST00000607187.2:n.227G>T
ENST00000607212.2:n.507G>T
ENST00000607482.6:c.296G>T ENSP00000475524.2:p.Gly99Val
ENST00000607814.6:n.473G>T
ENST00000646241.3:c.296G>T MANE Select ENSP00000493613.2:p.Gly99Val
ENST00000676526.1:c.350G>T ENSP00000504209.1:p.Gly117Val
ENST00000676597.1:c.296G>T ENSP00000503904.1:p.Gly99Val
ENST00000676657.1:c.296G>T ENSP00000504158.1:p.Gly99Val
ENST00000676967.1:c.296G>T ENSP00000502866.1:p.Gly99Val
ENST00000677394.1:c.350G>T ENSP00000504790.1:p.Gly117Val
ENST00000677525.1:c.*119G>T ENSP00000504197.1:n.*119G>T
ENST00000677755.1:n.397G>T
ENST00000678025.1:c.296G>T ENSP00000503463.1:p.Gly99Val
ENST00000678078.1:c.350G>T ENSP00000502993.1:p.Gly117Val
ENST00000678217.1:c.296G>T ENSP00000504109.1:p.Gly99Val
ENST00000678331.1:c.296G>T ENSP00000504524.1:p.Gly99Val
ENST00000678443.1:c.296G>T ENSP00000504006.1:p.Gly99Val
ENST00000678512.1:n.486G>T
ENST00000678622.1:n.341G>T
ENST00000678691.1:n.174G>T
ENST00000678939.1:c.296G>T ENSP00000503404.1:p.Gly99Val
ENST00000678988.1:n.1335G>T
ENST00000679053.1:n.341G>T
ENST00000679343.1:n.334G>T
ENST00000191018.9:c.296G>T ENSP00000191018.5:p.Gly99Val
ENST00000354880.9:c.350G>T ENSP00000346952.4:p.Gly117Val
ENST00000372459.6:c.296G>T ENSP00000361537.2:p.Gly99Val
ENST00000372484.7:c.350G>T ENSP00000361562.3:p.Gly117Val
ENST00000606066.1:n.341G>T
ENST00000606394.5:c.248+255G>T ENSP00000475827.1:n.248+255G>T
ENST00000606788.5:c.350G>T ENSP00000476235.1:p.Gly117Val
ENST00000607212.1:n.472G>T
ENST00000607482.5:c.296G>T ENSP00000475524.1:p.Gly99Val
ENST00000607814.5:n.474G>T
ENST00000607841.5:n.341G>T
NM_000308.2:c.350G>T NP_000299.2:p.Gly117Val
NM_000308.3:c.350G>T NP_000299.2:p.Gly117Val
NM_001127695.1:c.296G>T NP_001121167.1:p.Gly99Val
NM_001127695.2:c.296G>T NP_001121167.1:p.Gly99Val
NM_001167594.1:c.350G>T NP_001161066.1:p.Gly117Val
NM_001167594.2:c.350G>T NP_001161066.1:p.Gly117Val
NR_133656.1:n.1532G>T
NM_000308.4:c.296G>T MANE Select NP_000299.3:p.Gly99Val
NM_001127695.3:c.296G>T NP_001121167.1:p.Gly99Val
NM_001167594.3:c.296G>T NP_001161066.2:p.Gly99Val
NR_133656.2:n.341G>T