Canonical Allele Identifier: CA6958283

Gene: COG6

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.39660870A>G , CM000675.2:g.39660870A>G	GRCh38
NC_000013.10:g.40235007A>G , CM000675.1:g.40235007A>G	GRCh37
NC_000013.9:g.39133007A>G	NCBI36
NG_028352.1:g.10244A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_020751.3:c.358A>G MANE Select	NP_065802.1:p.Ser120Gly
ENST00000455146.8:c.358A>G MANE Select	ENSP00000397441.2:p.Ser120Gly
NM_001145079.1:c.358A>G	NP_001138551.1:p.Ser120Gly
NM_001145079.2:c.358A>G	NP_001138551.1:p.Ser120Gly
NM_020751.2:c.358A>G	NP_065802.1:p.Ser120Gly
NR_026745.1:n.523A>G
ENST00000356576.8:c.*195A>G	ENSP00000348983.4:n.*195A>G
ENST00000416691.5:c.358A>G	ENSP00000403733.1:p.Ser120Gly
ENST00000422759.6:n.423A>G
ENST00000455146.7:c.358A>G	ENSP00000397441.2:p.Ser120Gly
ENST00000536488.5:c.173A>G
ENST00000543804.5:c.*119A>G	ENSP00000440473.1:n.*119A>G
XM_011535168.1:c.358A>G	XP_011533470.1:p.Ser120Gly
XM_011535169.1:c.202A>G	XP_011533471.1:p.Ser68Gly
XM_011535170.1:c.202A>G	XP_011533472.1:p.Ser68Gly