Canonical Allele Identifier: CA388001458

Gene: COG6

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.39751003T>G , CM000675.2:g.39751003T>G	GRCh38
NC_000013.10:g.40325140T>G , CM000675.1:g.40325140T>G	GRCh37
NC_000013.9:g.39223140T>G	NCBI36
NG_028352.1:g.100377T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_020751.3:c.1884T>G MANE Select	NP_065802.1:p.Tyr628Ter
ENST00000455146.8:c.1884T>G MANE Select	ENSP00000397441.2:p.Tyr628Ter
NM_001145079.1:c.1826+23455T>G	NP_001138551.1:n.1826+23455T>G
NM_001145079.2:c.1826+23455T>G	NP_001138551.1:n.1826+23455T>G
NM_020751.2:c.1884T>G	NP_065802.1:p.Tyr628Ter
NR_026745.1:n.2049T>G
ENST00000356576.8:c.*1721T>G	ENSP00000348983.4:n.*1721T>G
ENST00000416691.5:c.1826+23455T>G	ENSP00000403733.1:n.1826+23455T>G
ENST00000455146.7:c.1884T>G	ENSP00000397441.2:p.Tyr628Ter
XM_011535168.1:c.2019T>G	XP_011533470.1:p.Tyr673Ter
XM_011535169.1:c.1863T>G	XP_011533471.1:p.Tyr621Ter
XM_011535170.1:c.1863T>G	XP_011533472.1:p.Tyr621Ter