Canonical Allele Identifier: CA387910301

Gene: COG6

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.39682261A>G , CM000675.2:g.39682261A>G	GRCh38
NC_000013.10:g.40256398A>G , CM000675.1:g.40256398A>G	GRCh37
NC_000013.9:g.39154398A>G	NCBI36
NG_028352.1:g.31635A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455146.8:c.785A>G MANE Select	ENSP00000397441.2:p.Tyr262Cys
ENST00000356576.8:c.*622A>G	ENSP00000348983.4:n.*622A>G
ENST00000416691.5:c.785A>G	ENSP00000403733.1:p.Tyr262Cys
ENST00000455146.7:c.785A>G	ENSP00000397441.2:p.Tyr262Cys
ENST00000465775.1:n.541A>G
ENST00000536488.5:c.517A>G
ENST00000537156.1:n.436A>G
NM_001145079.1:c.785A>G	NP_001138551.1:p.Tyr262Cys
NM_020751.2:c.785A>G	NP_065802.1:p.Tyr262Cys
NR_026745.1:n.950A>G
XM_011535168.1:c.785A>G	XP_011533470.1:p.Tyr262Cys
XM_011535169.1:c.629A>G	XP_011533471.1:p.Tyr210Cys
XM_011535170.1:c.629A>G	XP_011533472.1:p.Tyr210Cys
NM_020751.3:c.785A>G MANE Select	NP_065802.1:p.Tyr262Cys
NM_001145079.2:c.785A>G	NP_001138551.1:p.Tyr262Cys