Canonical Allele Identifier: CA6958866

Gene: COG6

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.39751133A>G , CM000675.2:g.39751133A>G	GRCh38
NC_000013.10:g.40325270A>G , CM000675.1:g.40325270A>G	GRCh37
NC_000013.9:g.39223270A>G	NCBI36
NG_028352.1:g.100507A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_020751.3:c.*40A>G MANE Select	NP_065802.1:n.*40A>G
ENST00000455146.8:c.*40A>G MANE Select	ENSP00000397441.2:n.*40A>G
NM_001145079.1:c.1826+23585A>G	NP_001138551.1:n.1826+23585A>G
NM_001145079.2:c.1826+23585A>G	NP_001138551.1:n.1826+23585A>G
NM_020751.2:c.*40A>G	NP_065802.1:n.*40A>G
NR_026745.1:n.2179A>G
ENST00000356576.8:c.*1851A>G	ENSP00000348983.4:n.*1851A>G
ENST00000416691.5:c.1826+23585A>G	ENSP00000403733.1:n.1826+23585A>G
ENST00000455146.7:c.*40A>G	ENSP00000397441.2:n.*40A>G
XM_011535168.1:c.*40A>G	XP_011533470.1:n.*40A>G
XM_011535169.1:c.*40A>G	XP_011533471.1:n.*40A>G
XM_011535170.1:c.*40A>G	XP_011533472.1:n.*40A>G