Canonical Allele Identifier: CA358639108
Community Standard Title: NM_001334.3(CTSO):c.7G>A (p.Val3Met)
Gene: CTSO HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.155953841C>T , CM000666.2:g.155953841C>T GRCh38
NC_000004.11:g.156874993C>T , CM000666.1:g.156874993C>T GRCh37
NC_000004.10:g.157094443C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001334.3:c.7G>A MANE Select NP_001325.1:p.Val3Met
ENST00000433477.4:c.7G>A MANE Select ENSP00000414904.3:p.Val3Met
NM_001334.2:c.7G>A NP_001325.1:p.Val3Met
ENST00000433477.3:c.7G>A ENSP00000414904.3:p.Val3Met
ENST00000676791.2:c.7G>A ENSP00000504976.1:p.Val3Met
ENST00000678374.1:c.7G>A ENSP00000504174.1:p.Val3Met
ENST00000679136.1:c.7G>A ENSP00000503875.1:p.Val3Met
ENST00000679625.1:c.7G>A ENSP00000506073.1:p.Val3Met
ENST00000679942.1:c.7G>A ENSP00000506416.1:p.Val3Met
ENST00000679996.1:c.7G>A ENSP00000505550.1:p.Val3Met
ENST00000680553.1:c.7G>A ENSP00000505290.1:p.Val3Met
ENST00000680741.1:c.7G>A ENSP00000505756.1:p.Val3Met
ENST00000681379.1:c.7G>A ENSP00000505854.1:p.Val3Met