Canonical Allele Identifier: CA387913780

Gene: COG6

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.39694706T>C , CM000675.2:g.39694706T>C	GRCh38
NC_000013.10:g.40268843T>C , CM000675.1:g.40268843T>C	GRCh37
NC_000013.9:g.39166843T>C	NCBI36
NG_028352.1:g.44080T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455146.8:c.1147T>C MANE Select	ENSP00000397441.2:p.Phe383Leu
ENST00000356576.8:c.*984T>C	ENSP00000348983.4:n.*984T>C
ENST00000416691.5:c.1147T>C	ENSP00000403733.1:p.Phe383Leu
ENST00000455146.7:c.1147T>C	ENSP00000397441.2:p.Phe383Leu
NM_001145079.1:c.1147T>C	NP_001138551.1:p.Phe383Leu
NM_020751.2:c.1147T>C	NP_065802.1:p.Phe383Leu
NR_026745.1:n.1312T>C
XM_011535168.1:c.1147T>C	XP_011533470.1:p.Phe383Leu
XM_011535169.1:c.991T>C	XP_011533471.1:p.Phe331Leu
XM_011535170.1:c.991T>C	XP_011533472.1:p.Phe331Leu
NM_020751.3:c.1147T>C MANE Select	NP_065802.1:p.Phe383Leu
NM_001145079.2:c.1147T>C	NP_001138551.1:p.Phe383Leu