Canonical Allele Identifier: CA6958136

Gene: COG6

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.39655727A>G , CM000675.2:g.39655727A>G	GRCh38
NC_000013.10:g.40229864A>G , CM000675.1:g.40229864A>G	GRCh37
NC_000013.9:g.39127864A>G	NCBI36
NG_028352.1:g.5101A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_020751.3:c.1A>G MANE Select	NP_065802.1:p.Met1Val
ENST00000455146.8:c.1A>G MANE Select	ENSP00000397441.2:p.Met1Val
NM_001145079.1:c.1A>G	NP_001138551.1:p.Met1Val
NM_001145079.2:c.1A>G	NP_001138551.1:p.Met1Val
NM_020751.2:c.1A>G	NP_065802.1:p.Met1Val
NR_026745.1:n.101A>G
ENST00000356576.8:c.1A>G	ENSP00000348983.4:p.Met1Val
ENST00000416691.5:c.1A>G	ENSP00000403733.1:p.Met1Val
ENST00000422759.6:n.66A>G
ENST00000455146.7:c.1A>G	ENSP00000397441.2:p.Met1Val
ENST00000542266.5:c.1A>G	ENSP00000441297.1:p.Met1Val
ENST00000543790.5:c.1A>G	ENSP00000440438.1:p.Met1Val
ENST00000543804.5:c.1A>G	ENSP00000440473.1:p.Met1Val
ENST00000630730.1:c.1A>G	ENSP00000486051.1:p.Met1Val
XM_011535168.1:c.1A>G	XP_011533470.1:p.Met1Val