Canonical Allele Identifier: CA388000965

Gene: COG6

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.39723420C>T , CM000675.2:g.39723420C>T	GRCh38
NC_000013.10:g.40297557C>T , CM000675.1:g.40297557C>T	GRCh37
NC_000013.9:g.39195557C>T	NCBI36
NG_028352.1:g.72794C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020751.3:c.1672C>T MANE Select	NP_065802.1:p.Gln558Ter
ENST00000455146.8:c.1672C>T MANE Select	ENSP00000397441.2:p.Gln558Ter
NM_001145079.1:c.1672C>T	NP_001138551.1:p.Gln558Ter
NM_001145079.2:c.1672C>T	NP_001138551.1:p.Gln558Ter
NM_020751.2:c.1672C>T	NP_065802.1:p.Gln558Ter
NR_026745.1:n.1837C>T
ENST00000356576.8:c.*1509C>T	ENSP00000348983.4:n.*1509C>T
ENST00000416691.5:c.1672C>T	ENSP00000403733.1:p.Gln558Ter
ENST00000455146.7:c.1672C>T	ENSP00000397441.2:p.Gln558Ter
XM_011535168.1:c.1672C>T	XP_011533470.1:p.Gln558Ter
XM_011535169.1:c.1516C>T	XP_011533471.1:p.Gln506Ter
XM_011535170.1:c.1516C>T	XP_011533472.1:p.Gln506Ter