Canonical Allele Identifier: CA697976715

Gene: COG6

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.39656271A>G , CM000675.2:g.39656271A>G	GRCh38
NC_000013.10:g.40230408A>G , CM000675.1:g.40230408A>G	GRCh37
NC_000013.9:g.39128408A>G	NCBI36
NG_028352.1:g.5645A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_020751.3:c.153+392A>G MANE Select	NP_065802.1:n.153+392A>G
ENST00000455146.8:c.153+392A>G MANE Select	ENSP00000397441.2:n.153+392A>G
NM_001145079.1:c.153+392A>G	NP_001138551.1:n.153+392A>G
NM_001145079.2:c.153+392A>G	NP_001138551.1:n.153+392A>G
NM_020751.2:c.153+392A>G	NP_065802.1:n.153+392A>G
NR_026745.1:n.253+392A>G
ENST00000356576.8:c.153+392A>G	ENSP00000348983.4:n.153+392A>G
ENST00000416691.5:c.153+392A>G	ENSP00000403733.1:n.153+392A>G
ENST00000422759.6:n.218+392A>G
ENST00000455146.7:c.153+392A>G	ENSP00000397441.2:n.153+392A>G
ENST00000542266.5:c.*122A>G	ENSP00000441297.1:n.*122A>G
ENST00000543790.5:c.*122A>G	ENSP00000440438.1:n.*122A>G
ENST00000543804.5:c.153+392A>G	ENSP00000440473.1:n.153+392A>G
XM_011535168.1:c.153+392A>G	XP_011533470.1:n.153+392A>G
XM_011535169.1:c.-69+392A>G	XP_011533471.1:n.-69+392A>G
XM_011535170.1:c.-73A>G	XP_011533472.1:n.-73A>G