Canonical Allele Identifier: CA382026554
Gene: CTSC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.88312457C>A , CM000673.2:g.88312457C>A GRCh38
NC_000011.9:g.88045625C>A , CM000673.1:g.88045625C>A GRCh37
NC_000011.8:g.87685273C>A NCBI36
NG_007952.1:g.30317G>T , LRG_50:g.30317G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000227266.10:c.416G>T MANE Select ENSP00000227266.4:p.Gly139Val
ENST00000527018.6:c.416G>T ENSP00000432556.2:p.Gly139Val
ENST00000533897.2:n.464G>T
ENST00000676612.1:c.*223G>T ENSP00000504440.1:n.*223G>T
ENST00000677208.1:c.319-3139G>T ENSP00000504347.1:n.319-3139G>T
ENST00000677661.1:c.*93G>T ENSP00000503323.1:n.*93G>T
ENST00000677802.1:c.*93G>T ENSP00000504115.1:n.*93G>T
ENST00000678395.1:c.416G>T ENSP00000503123.1:p.Gly139Val
ENST00000678464.1:c.416G>T ENSP00000503046.1:p.Gly139Val
ENST00000678506.1:c.416G>T ENSP00000503580.1:p.Gly139Val
ENST00000678520.1:c.*223G>T ENSP00000503361.1:n.*223G>T
ENST00000678554.1:c.416G>T ENSP00000504541.1:p.Gly139Val
ENST00000678915.1:c.416G>T ENSP00000504805.1:p.Gly139Val
ENST00000679224.1:c.53G>T ENSP00000504475.1:p.Gly18Val
ENST00000227266.9:c.416G>T ENSP00000227266.4:p.Gly139Val
ENST00000527018.5:c.286G>T
ENST00000533865.5:n.438G>T
NM_001814.4:c.416G>T , LRG_50t1:c.416G>T NP_001805.3:p.Gly139Val
NM_001814.5:c.416G>T NP_001805.3:p.Gly139Val
NM_001814.6:c.416G>T MANE Select NP_001805.4:p.Gly139Val