Canonical Allele Identifier: CA382022300
Community Standard Title: NM_001814.6(CTSC):c.910T>A (p.Tyr304Asn)
Gene: CTSC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.88294488A>T , CM000673.2:g.88294488A>T GRCh38
NC_000011.9:g.88027656A>T , CM000673.1:g.88027656A>T GRCh37
NC_000011.8:g.87667304A>T NCBI36
NG_007952.1:g.48286T>A , LRG_50:g.48286T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001814.6:c.910T>A MANE Select NP_001805.4:p.Tyr304Asn
ENST00000227266.10:c.910T>A MANE Select ENSP00000227266.4:p.Tyr304Asn
NM_001814.4:c.910T>A , LRG_50t1:c.910T>A NP_001805.3:p.Tyr304Asn
NM_001814.5:c.910T>A NP_001805.3:p.Tyr304Asn
ENST00000227266.9:c.910T>A ENSP00000227266.4:p.Tyr304Asn
ENST00000533897.1:n.3644T>A
ENST00000533897.2:n.5223T>A
ENST00000676612.1:c.*717T>A ENSP00000504440.1:n.*717T>A
ENST00000677208.1:c.*416T>A ENSP00000504347.1:n.*416T>A
ENST00000677661.1:c.*587T>A ENSP00000503323.1:n.*587T>A
ENST00000677802.1:c.*587T>A ENSP00000504115.1:n.*587T>A
ENST00000678395.1:c.*416T>A ENSP00000503123.1:n.*416T>A
ENST00000678464.1:c.890-13T>A ENSP00000503046.1:n.890-13T>A
ENST00000678506.1:c.871T>A ENSP00000503580.1:p.Tyr291Asn
ENST00000678520.1:c.*561T>A ENSP00000503361.1:n.*561T>A
ENST00000678554.1:c.889+1645T>A ENSP00000504541.1:n.889+1645T>A
ENST00000678915.1:c.778T>A ENSP00000504805.1:p.Tyr260Asn
ENST00000679224.1:c.547T>A ENSP00000504475.1:p.Tyr183Asn