Canonical Allele Identifier: CA1989482757
Community Standard Title: NM_001814.6(CTSC):c.1040A= (p.Tyr347=)
Gene: CTSC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.88294358T= , CM000673.2:g.88294358T= GRCh38
NC_000011.9:g.88027526T= , CM000673.1:g.88027526T= GRCh37
NC_000011.8:g.87667174T= NCBI36
NG_007952.1:g.48416A= , LRG_50:g.48416A=

Transcript Alleles

HGVS Amino-acid Change
NM_001814.6:c.1040A= MANE Select NP_001805.4:p.Tyr347=
ENST00000227266.10:c.1040A= MANE Select ENSP00000227266.4:p.Tyr347=
NM_001814.4:c.1040A= , LRG_50t1:c.1040A= NP_001805.3:p.Tyr347=
NM_001814.5:c.1040A= NP_001805.3:p.Tyr347=
ENST00000227266.9:c.1040A= ENSP00000227266.4:p.Tyr347=
ENST00000533897.1:n.3774A=
ENST00000533897.2:n.5353A=
ENST00000676612.1:c.*847A= ENSP00000504440.1:n.*847A=
ENST00000677208.1:c.*546A= ENSP00000504347.1:n.*546A=
ENST00000677661.1:c.*717A= ENSP00000503323.1:n.*717A=
ENST00000677802.1:c.*717A= ENSP00000504115.1:n.*717A=
ENST00000678395.1:c.*546A= ENSP00000503123.1:n.*546A=
ENST00000678464.1:c.1007A= ENSP00000503046.1:p.Tyr336=
ENST00000678506.1:c.1001A= ENSP00000503580.1:p.Tyr334=
ENST00000678520.1:c.*691A= ENSP00000503361.1:n.*691A=
ENST00000678554.1:c.889+1775A= ENSP00000504541.1:n.889+1775A=
ENST00000678915.1:c.908A= ENSP00000504805.1:p.Tyr303=
ENST00000679224.1:c.677A= ENSP00000504475.1:p.Tyr226=